Sharing your Stories of Living and Thriving with 22q!
The International 22q11.2 Foundation would love to hear personal stories about friends and family persevering and thriving with 22q! Because everybody has those days when you need something inspiring, something that gives us hope. If you know someone, or would like to share your own story, we want to hear from you!
We look forward to hearing from you!
William & Jordon’s Story
(posted March 31, 2021)
William Downey is our April 22q Calendar Spotlight. Shortly after his birth, his parents noticed something wasn’t right. After lots of scans were completed he was transferred immediately to Helen DeVos Children’s Hospital and soon after he was diagnosed with 22q11.1 Deletion.
The doctors wanted to wait until he was a little stronger, then at just 8 days old William had heart surgery to repair and interrupted Aorta. He had to spend a month in the hospital, which was extremely hard on his parents Haley and Jordon since they lived 3 hours away. That time was made easier with all the support they received from their parents Lorri and Patrick and the community who held many fundraisers in William’s honor!
Now flashback 28 years before William’s birth on April 15, 1990, after a healthy pregnancy his dad Jordon was born via C-section. The next morning the doctor informed his parents that they wanted to transfer him to Motts Children’s Hospital and after an echocardiogram it was determined he had 2 holes in his heart. So after 5 months of tube feeding, weighing in at 12 pounds he had open-heart surgery. Jordon’s parents were told, “it’s just one of those things” and they went on with life. Jordon did have some learning disabilities and several other issues but again, “just one of those things!” After Jordon’s son William was born and diagnosed with 22q11.2 Deletion, Jordon was tested due to his history and yes he also has the 22q deletion, “Now it all makes sense” says Jordon’s mother Lorri.
What a difference it will be for William’s parents knowing what they are up against compared to 28 years ago and thinking “it’s just one of those things!”
William will be 3 years old in July and as his mom says, “He loves being outdoors with his Papa, absolutely loves it!” William is deaf in one ear and has had to have 8 teeth pulled but is a strong independent little boy! When asked what advice Haley has to others facing this situation she says, “The only advice I have for anyone who finds out their kids have it or they have it, keep your head up, these 22qties are stronger than we ever will be! It will get better the days are long but you will get through this!”
Cara & Oliver’s Story
(posted March 31, 2021)
Cara Dillard, a 28-year-old, Texas native, who lives with 22q11.2 deletion syndrome and manages her daily life with hard work, dedication, and a lot of faith. She was diagnosed with 22q when she was 2 years old, right after her dad passed away. She remembers her childhood being tough because she had both speech and hearing problems that limited her. Her speech and hearing problems got better once she got to high school, thanks for hearing aids and speech therapy, and she studied hard to make great grades – As and Bs!
After high school, Cara went on to college where she graduated with an Office Assistant certificate. She currently works at a local grocery store, where she is currently the Assistant Produce Manager.
Cara has a little boy, Oliver, who was diagnosed with 22q11.2 deletion syndrome. He is 3 years old and has had three major open-heart surgeries before he was 2 years old. He has many health issues and is just now learning to eat by mouth. Living with 22q and being a 22q parent requires ongoing doctors’ appointments. However, Cara’s advice to others who live with 22q is to not give up on yourself.
Robin & McKenna’s Story
(updated post March 31, 2021)
Robin has been a feature story for us in the past, this time we want to share how she is working the front lines helping to educate others about the COVID19 vaccine.
Robin has been a nurse since 2010 and in the health care field since 2005 and says she comes from a long line of nurses, “I come from a line of nurses, most of the women in my family are nurses!”
She is currently working in an assisted living facility testing employees and patients for COVID19 and educating them about the vaccine. Robin who was diagnosed 22q deletion several years ago after the birth of her 2nd child stopped working at that time to be a nurse to her baby but decided to take a position with this team because it was so close to her home and she wanted to take baby steps back into working outside of her home.
When asked if she was worried about COVID for herself she said, “Even with having 22q I have a pretty great immune system, I don’t get sick easily. We have proper PPE in place while doing patient care. I was more concern with passing onto my family”.
So how does she protect her family after she has finished her time at the assisted living facility? “I have a pretty crazy routine of sanitizing myself before entering my house, so my family isn’t concerned with me working the frontlines”.
Getting the COVID19 vaccine is a concern for many in the 22q family, Robin has finally received hers and there were some side effects. “The first vaccine I just had a sore arm from the injection site. That lasted 48-72 hours. After the second dose, that evening I had a low-grade fever, body aches, and fatigue that lasted 6-8 hours. This is normal responses to the vaccine, it’s your body’s way of fighting and building immunity”.
Robin is thankful to be able to assist others and be on the frontline helping to protect!
(posted January 4, 2020)
McKenna is now a happy healthy 3-year-old. She started some remote learning preschool with our local school district and plans to fully start preschool in the fall of this year! She will go to school with an IEP and home health nurse by her side but is super excited to start. Even though she still requires oxygen 24/7 nothing seems to stop her. She loves to play with her sister, loves her baby dolls and pretend play, she also loves to play with her ball and being outside and swimming as you can see.
She is able to eat everything by mouth now, food and fluid, but still some tube feeding at night. What she doesn’t eat by mouth we blend through her tube but most of her fluid is still through her gtube. We take everything in baby steps!
Unfortunately, January this year we were admitted to the hospital for the flu my worse fears ever, but she fought through like a champ. Now since COVID we have been staying sheltered in place and spend our time just enjoying each other as a family.
I stopped working as a nurse …… in order to have the time needed to take care of my family. But I recently went back to work as a nurse at a local facility to help with the virus during this crucial time. Thankfully we are all maintaining good health and I have a strategy on how I enter my home after work! My husband has worked from home since the beginning of the lock down as well so we are all doing our part.
Over all we are happy and thriving. Not visiting doctors and the hospital as much, which makes life less hectic and more enjoyable.
Living Brilliantly with 22q!
Imagine you are 32, have a successful nursing career, married with 2 children and you are diagnosed with 22q! How could this be possible, one could ask…. Read on!
Robin Gramke was born December, 1985, 2 months premature. She struggled with feeding and reflux as a baby and toddler, having to be fed sitting straight up, by her parents. Robin was healthy with no known medical issues as a child, although she did have speech therapy throughout her childhood and always had a very nasal-sounding voice. At age 14, due to an illness that turned out to be rheumatic fever and Sydenham chorea, she discovered she had a soft-closed palate, which doctors attributed to her premature birth.
Through Robin’s eyes, she lived a pretty normal, healthy life. She had lots of friends, and like most kids, loved and hated school– but performed well, especially in Science and Art. Even though she was bullied in elementary school for her nasal voice, she says, “I never let that bother or define me.”
Robin graduated high school in 2004 and became a State Tested Nursing Assistant (STNA), in 2005. She says, “I didn’t want to go to college right away because I wanted to travel and have fun!” She traveled around several states in the US and then returned home to be with her family during her mother’s battle with cancer. She went back to school in 2006 to become a medical assistant and then nursing school in 2009. In 2010, on a Saturday in May, she completed nursing school and 2 days later started her first real nursing job. She was not officially a nurse until June 1, 2010, after passing the NCLEX exam (on her first try), and has worked as a full-time nurse ever since!
After starting her career, Robin met her soon to be husband and after a short romance (3 months) they wed in October 2011. Madison, their first child, was born October 2013 at 41 weeks with no complications via C-section (after Robin had been placed on bed rest due to preeclampsia). Robin continued working as a nurse until her second child, McKenna was born in December 2017 at 39 weeks a scheduled C-section. Robin loves her career and continues to work although with taking care of Madison and McKenna, it can prove to be taxing at times.
So, how does a healthy 32-year-old, successful, Licensed Practical Nurse and mother of two find out that she has 22q11.2 Deletion Syndrome?
After a normal pregnancy, her second daughter, McKenna was born with Truncus type 2, an interrupted aortic arch type B, and had a seizure shortly after birth (due to very low levels of calcium). McKenna tested positive for 22q11.2 Deletion syndrome, so her Genetic Counselor with the 22q Clinic at Cincinnati wanted to test Robin and her husband as well.
As many parents know, this was not an easy task. The insurance company did not want to approve testing since they claimed it did not affect McKenna’s quality of life or well-being. The Geneticist resubmitted the request for a FISH test instead of a Microarray test, the insurance approved and it was confirmed Robin had 22q. Robin then had an echocardiogram, which revealed an aberrant right subclavian artery, which can be associated with 22q.
So what is 22q to Robin?
It is a loving and uneventful upbringing in a great family, a good education and now a full adult life with a family and career.
“I realize I am not a typical individual with 22q”, Robin adds. “I had a very healthy childhood and I now live a great life. If McKenna was not born with 22q, I would have never have known about myself, so I want to raise awareness and help as much as I can with this,” says Robin. “I believe this is my calling now and my purpose.”
(Posted March 1, 2021)
Easton was born in Raleigh, NC on April 4, 2014. He was a big boy weighing in at 9lbs and 7ozs. When he was born and we only knew about his cleft lip. We didn’t find out about his 22q until he was almost 2 years old. At 4 months old we noticed he always held his head to the side, the doctors thought he had torticollis and that physical therapy would help. After months of physical therapy and no improvement, we went back to UNC genetics and were diagnosed with 22q11.2 deletion.
Easton started Preschool at the age of 3. He was in an EC preschool classroom in the public school system. His teachers showered him with lots of love and he quickly learned to love school. Speech has been his biggest struggle and it continues to be. He is making great progress with his private therapist but it has been a slow process. He is now 6 and has been homeschooled for the last 2 years. He is just starting to read, write, and do simple math. I am so proud of his determination and eagerness to learn.
Easton has a spinal/neck deformity that limits him from being able to do some activities. (No contact sports, trampolines, bounce houses, ATV’s or dirt bikes) He has a higher risk of injuring his neck since he is missing the bone between his neck and spinal cord. We are currently in the process of more medical testing to see when and if surgery will be needed in the future. Our hopes and prayers are that he will not need to go through such a traumatic surgery. Easton loves to be outdoors. He LOVES the beach and the pool. He is an excellent swimmer! Most every day he takes a ride around the neighborhood on his bike and speaks to anyone outside in their yards. He is very social. He loves people and loves to make them laugh.
Easton has a BIG support team. My family and I feel so loved by all the love and prayers that have gone up for him in times of sickness, surgeries, yearly MRIs, and doctor’s appointments. Prayer and our trust in God have been what has helped us through the hard times. I always go back to this verse when I am struggling with a milestone my son isn’t hitting like I wanted him to or when I am stressed about something that he may have to deal with in his future. Jeremiah 29:11 “For I know the plans I have for you,” declares the Lord, “plans to prosper you and not to harm you, plans to give you hope and a future.”
Easton has been an inspiration to so many that know and love him. He has the biggest personality and takes joy in making other people happy. It amazes me how far he has come and how determined he is when he sets his mind to something. I think I would have to say the one thing about him that brings me the most joy is his love for people and how he has such a way about him that just draws people of all ages to him no matter where he goes.
(posted February 21, 2021)
Zane was born premature in Dallas, Texas on December 22, 2015. Unfortunately, he had a lot of struggles in the beginning of his young life and spent the first nine months of his life in the hospital. Zane was one month old when his doctors discovered that his heart was abnormally large. He also had a heart murmur and difficulty breathing. When Zane’s newborn screen came back abnormal, the doctors diagnosed him with 22q11.2. He had to have open-heart surgery immediately. Finally, after nine months, Zane was released from the hospital with a trach and gastrostomy tube (G-tube). Although it was hard at first, he eventually thrived at home! Zane’s trach was removed when he was two years old and he is now eating purees by mouth.
Until recently, Zane had never been able to swallow properly or to eat any amount of food without a feeding tube. By the time he was four years old, his parents thought he may never eat without the tube. “It was ok if he never did,” says his mom, Kaitlyn. “He had the feeding tube and it was not a big deal to feed him that way.” Everything changed this past summer when Zane went to an inpatient facility for intensive therapy. He worked really hard and learned how to eat by his mouth. Zane now eats purees every day and hasn’t used the feeding tube in several months! “The fact that he built up his mouth muscles and did the work is so incredible to us!” exclaims Kaitlyn. “We are so excited!” Zane’s parents hope he can have the feeding tube removed one day, but if it doesn’t happen, that’s ok.
Zane LOVES school, he has a personal nurse at school that helps him with all of his needs. Zane also loves people and animals. Kaitlyn says he is very social and loving. Although Zane tires easily, he enjoys running and playing especially games and with cars. Zane is a happy child.
Kaitlyn wants children and families living with 22q to know that there is a whole community that spreads awareness and love. “You are not alone!” she says.
(posted February 21, 2021)
My son Bernando was born in Connecticut and diagnosed with 22q11.2 at birth. After his birth, he immediately had his first surgery which he did great! The doctors said he would not be able to do or accomplish much, but he has already accomplished so many things and continues to prove every day that he is better than his diagnosis!
Bernando just turned 10 in January and is in 4th grade. He is very active, loves video games and just loves life. He recently had open-heart surgery, October 2020, and did awesomely!
I will tell parents of kids with 22q that love and patience are what they need given this they can conquer the world! I love my 22q baby, he is my superhero and I’m his #1 FAN!
(posted February 21, 2021)
“Hi everyone! I am Jordan James (JJ) and I am 4 years old (soon to be 5)! I decided to make my appearance 6 and a half weeks early and spent my first 6 weeks in the Neonatal Intensive Care Unit. It was during my time in the hospital that my mama was first told I had 22q11.2 deletion syndrome. She had never heard of it before and it took our family by surprise.
So far, we have visited many different doctors and traveled as far as Children’s Hospital of Philadelphia, from our home in Alabama, to meet with specialists who understood what 22q was. I have had my fair share of hospital stays since my initial stay. I ended up getting aspiration pneumonia right before my first birthday, and since then I now get fed directly through the button in my stomach. I had to have surgery to fix a cleft in my throat when I was 2 and got super sick. I was in the Pediatric Intensive Care Unit for 10 days. I was so glad I got to go home with my mama after that. I am cleared to eat now, but it really does not sound like much fun to me. So, we have started feeding therapy to help me learn how to eat without using my button.
I enjoy going to school and have missed my pre-k classroom this year. It was decided that it was safer for me to learn from home because I get sick so easily. I still get to go to the big school to meet with my OT, PT and Speech teachers though. I am learning to use a tablet to talk to my family. I do not mind wearing my glasses, but those hearing aids of mine I do not like to keep in. Next fall I am going to start Kindergarten at the same school my big brother and big sister attend. It will be the only year we are all at the same school!
Last summer I was diagnosed with autism level 2 and global developmental delay. My mama says that my diagnosis’ do not define who I am! I recently started to learn to swim and when the virus starts to clear up, I am hoping to take part in the Special Olympics program in my hometown. I love all things Mickey Mouse or water related and love to play on my tablet. Keeping swimming my fellow 22qties!”
(posted February 10, 2021)
Hello, my name is Sara and I am going to be telling you about my daughter Myla.
Myla is a little over two years old now, she was born full term. My whole pregnancy everything was said to be absolutely perfect in every scan and ultrasound that we had received. As a first time mother, I was very nervous and excited to be bringing a wonderful child into the world. After a complicated labor, Myla was born via C-section; and as crazy as it sounds… from her very first cry I could sense something was wrong. Once I was in recovery, the pediatrician informed me that she had a heart murmur but everything else seemed to be fine. Within the next few days, other things happened and we were advised we should transfer her to the NICU at our nearest Children’s Hospital. It was there in the NICU, we received Myla’s 22q11.2 Deletion diagnosis, as well as her Tetralogy of Fallot diagnosis and a few more. After that I was informed how lucky we were that she was a “pink tet”; which meant she would be able to wait until she was a few months older before needing her first open heart surgery, this was amazing news! My husband; Myla’s wonderful father, offered to work overtime when needed to let me stay home with our daughter and provide her the best care possible without having to worry about her being under someone else’s care with all of her medical concerns.
Myla received her first heart surgery at the age of 5 and a half months old. With a lot of praying and hoping, she made it through great and was out of the hospital in 7 days! We were so relieved, after many months of being on multiple medications and specialty appointments… we might finally have a break from some of it for at least a little while. We’ve followed with every specialist I can think of in Children’s Hospital and at home! This includes cardiology, immunology, endocrinology, cleft craniofacial, plastics, ophthalmology, audiology, occupational therapy, and speech therapy. Myla was doing great, she was off of all her previous medications and we got to celebrate her one-year heart anniversary! We were so happy; I did a photoshoot for her with her “Beads of Courage!”. But just a short two days later, Myla had her first seizure where she had to be resuscitated and life-flighted to Children’s Hospital. After one more seizure and a three-day stay on the neurology floor of the hospital; she was diagnosed with Epilepsy and put on seizure medication. Ever since her seizures she has received early intervention services more frequently, we now follow with both occupational therapy and speech therapy once a week each. This March will be one-year seizure-free for Myla on her seizure medication. What a blessing!
Although Myla has been through many challenges she is fun-loving, caring, and kind. We have fun every day doing educational activities at home since she is not yet in school. Before COVID-19, we also took many swim classes together, enjoyed going on trips to petting zoos, the aviary, and many more places. Other than that, Myla loves horseback riding with her Aunt Halie, visiting our family/friends, playing outside, spending time with her Grandma, and playing at home with her two dogs, Zoey (Labrador), and Asher (Great Dane). Myla fills everyone’s hearts with love when she meets them and fills our home with love on a daily basis. We try to make every day a great day for her and she does the same for everyone around her. However, we know that is not always possible, and that’s okay too. Even if it is a bad day, there is always something to be thankful for.
If Myla learns anything from me, I want it to be that you can do anything you want to if you try hard enough, and always remember you are loved exactly the way you are, so be who you want to be; not something someone else expects you to be. We hope that everyone else with 22q remembers that on even the worst of days there is something to be thankful for and that you truly are perfect just the way you are. Don’t change who you are for anyone. You are loved, I am loved, we are all loved; exactly the way we are.
(posted February 2, 2021)
Teagan was born in June 2018, in Maryland. She surprised us at birth with an obvious cornea defect in her right eye. Due to the severity, they sent her by ambulance to Johns Hopkins in Baltimore, where she received a cornea transplant at 5 days old. The doctors said she might actually be the youngest person to ever receive a cornea transplant. In the weeks and months that followed we discovered a few other health issues – most significantly, at 7 weeks old we determined she was aspirating into her lungs with every swallow. She immediately got a feeding tube. She also had significant issues with reflux and just generally spent her first year of life ill and in pain. That was a rough year for the whole family. But slowly but surely she started to improve. She eventually grew out of most of her reflux issues, and after many surgeries and we finally stabilized her right eye when she was around 18 months old. At that point she was finally more physically comfortable, and the rest of her development just took off.
In 2020 we were able to wean her off both the home oxygen and her feeding tube. She is now 2.5 years old and she is not currently on any type of medication – although she does wear a conformer in her right eye and a contact lens in her left eye. She does not attend school or daycare due to COVID, but we hope to enroll her soon because we feel she is ready to get out into the world. She has very little usable vision in her right eye and a very strong prescription in her left eye – but she doesn’t know any different and she does not let it keep her down. She runs all around the playground (making my heart stop when she climbs to the top of the highest equipment), keeps up with her sisters at home, is obsessed with her tablet when we let her have screen time, and loves when we read her books. She is starting to talk and sign with us and it’s amazing to watch how quickly she learns about the world around her. Her favorite things in life are applesauce, her two older sisters (twins who are 4-yrs old), family dance parties, and Elmo.
I am most proud of her for: how quickly she taught herself how to eat. She went from 100% tube fed to 100% oral in six weeks, and it only even took that long because we took a very cautious approach. It turns out she was capable of so much more than I realized – I’m taking that as a lesson that sometimes I need to just get out of her way and let her show me what she can do. Teagan is still very young and we know additional challenges could come up, but for now she is a happy, healthy 2-yr old, so we are just enjoying this phase and making sure she has all the support she needs to continue to succeed.
(posted January 28, 2021)
Kaymon Tywan Wilson is now 16 years old. He was diagnosed with 22q11.2 deletion syndrome at about 3 months old. He also has been diagnosed with Autism and a speech delay. Kaymon will be graduating from High School in June 2023 and then transitioning into the 18+ program. He lives in Southeast Texas in the city of Beaumont with his parents. Kaymon’s mother, Twana Wilson is a Publisher Author, Healthcare Field Interviewer, Parent, Advocate, and Mentor. Kaymon’s father is a Maintenance Mechanic with the U.S. Postal Service and U.S. Army Veteran.
Kaymon loves music and his electronics (keyboard, headphones, laptop, iPod, iPad, iphone, & Alexa). He has one sister and one brother and loves to spend time with them and visit his aunt and grandparents. During his lifetime thus far, Kaymon has shown incredible talents and gifts, like mastering the BopIt sensory play toy at all levels. Kaymon is the Vice-President of the Youth and Young People Department (YPD) at his church. You will find him leading prayer, singing in the youth choir, and occasionally playing the piano. Kaymon serves as the story inspiration of a new children’s book series, “The Chronicles of Blue” when a child with 22q and various developmental disabilities and his family help each other to overcome obstacles daily. The first book, Me, You, and 22q pre-orders will be available at the website. This was a collaborative project between him and his mother written during the pandemic and hopes that the book will inspire others with 22q and their families. In addition, Kaymon has been featured as a special guest of The Reeva Williams Show in Southeast Texas who showcases people doing special things, gifts, and talents in the community spreading positivity. Kaymon found his love for the piano watching his musical director at church play the piano and in middle school from his choir teacher who was instrumental in helping to develop a behavior intervention strategy to reinforce positive behavior. He has taught himself how to play non-traditional to classical music on the piano, from Super Mario Bros to “Fur Elise” by Beethoven. To add, Kaymon has just been named the Star Student of the Week during the month of November at the Southeast Texas School of Music where he is under the direction of Ms. Leslie.
Kaymon is working on public communication skills, obtaining his driver’s license, deciding where he wants to go to college, and brainstorming of what his career path will be. Kaymon’s dream job would be working as a meteorologist, piano player, or anything technology. Recently, Kaymon was able to speak along side his mom about 22q and what is means for other 22q families to the local City Council and receive a proclamation (legislative advocacy) for 22q Awareness to be recognized during the month of November and November 22nd as 22q Awareness Day. Kaymon’s is excited about having his first official teenager birthday party. His favorite saying now is, “am I 17 yet?” and “what’s gonna happen then?”
(posted January 22, 2021)
Jackson was born August 19, 2011 in New Orleans, Louisiana. He was diagnosed with a VSD and ASD the day he was born. Thanks to the intuition of the on-call pediatrician, he was tested for DiGeorge based on these CHDs alone. We are still extremely grateful to this day for such foresight from this doctor. We truly believe this has made all the difference in Jack’s life. Thanks to him we were diagnosed early and received amazing early intervention throughout his younger childhood. Jackson underwent 5 surgeries before the age of 4 including open-heart surgery, a hernia repair, and a VPI repair. As many of you understand, it felt like we lived at the hospital for many years. If we weren’t preparing for a procedure, we were dealing with chronic sinus and ear infections or therapy sessions. Jackson struggled with speech until his VPI was corrected at age 4. He was non-verbal until age 3 and unintelligible to everyone besides close family. It is almost unbelievable to listen back to old videos and see how far his speech has come. Currently, you would not be able to tell he had any speech issues at all. He graduated from speech therapy 2 years ago. We are so grateful for all the amazing doctors and therapist that have worked with Jackson these last nine years. They truly have made all the difference.
Even with such an extensive medical history, Jackson has remained a silly, fun, smart, and loving little boy. He is currently in the 3rd grade and is doing amazing! He receives some classroom intervention due to his ADHD, but other than that is pretty much at the same level as his peers. He loves video games, YouTube, and Beyblades. We have tried multiple sports throughout the years, but the one that has really stuck is karate. He absolutely loves it! He has done extremely well competing in tournaments and has medaled in every competition he’s entered. He even took home his first Gold medal this year, which he worked extremely hard for.
Even though we have struggled with medical issues in the past and continue to struggle with behavior issues currently, I would just like to give a glimmer of hope to someone maybe new to this diagnosis. We were told initially that Jackson would probably have a low IQ and would never go to college. Although I do believe in being a realist and setting realistic expectations, I never had that mindset. From day one, I always believed Jackson would be Jackson, and he could do anything he wanted to in this life. I don’t know if he will choose to go to college, but I do see it as a possibility. I don’t like putting people in boxes. Continue to believe, dream, and hope because there is light at the end of the tunnel, and we all have a path that we were meant to walk. We are so proud of Jackson and everything that he has overcome and accomplished so far. We will continue to encourage him to dream big and work hard for all his goals.
(posted January 22, 2021)
Hunter was born in Jefferson City, Missouri to a mommy and daddy who had hoped and dreamed for him! He has an older brother who is very protective of him and a dog named Gunner whom he loves to play with.
Like most 22q-ers, Hunter had feeding difficulties and aspirated the day he was born. He was in and out of the hospital about every other month for weeks at a time with respiratory distress. It was clear there was something more going on, but his parents struggled to find answers. Overall, Hunter was a happy baby who loved being snuggled.
It wasn’t until Hunter had been shuffled to several different specialists when he and his family met Dr. Alan Knutson, an immunologist at SSM Health Cardinal Glennon Children’s Hospital. It was obvious that Hunter had an underlying condition and Dr. Knutson would not stop until he found the answers. In January 2018, when Hunter was hospitalized for influenza, his family got the call with the results of his genome testing. Hunter had a deletion of the 22nd chromosome. Finally, everything began to make sense – Hunter’s delays, various illnesses and eating problems. His parents finally had the information and answers they needed. Within a few hours of Hunter’s diagnosis, five specialists – from cardiology to genetics – had tested and evaluated him. Hunter’s parents were told he had an immune deficiency, but also that he might not ever walk, talk or do a lot of things children his age could do.
Within a week of Hunter’s diagnosis, he and his family met with a Missouri First Steps counselor that set him up with physical, occupational and speech therapy through the Jefferson City, Missouri Special Learning City. Hunter was finally going to be okay!
Hunter still attends the special learning center and continues to receive all of the necessary therapies to help him excel. He still struggles with cognitive and development delays, but because of the dedication and determination of his therapists to help him succeed, Hunter has made significant improvements and has come a long way.
Although Hunter’s parents were told he may never walk or talk when he was 18 months old, they never gave up hope. Today, Hunter is a 4-year-old boy who loves adventure. He is walking, running and talking in almost full sentences! He enjoys being outside, climbing, fishing, swimming and dancing – anything he can do to be active. “Hunter exceeds everyone’s expectations every day!” Hunter’s mom exclaims with pride.
Hunter’s parents are so excited for him to continue preschool and to learn more about his colors and letters. They are looking forward to seeing him start kindergarten in the near future. As he continues through life, Hunter’s parents hope he is able to make lots of friends who are accepting of him.
“Never give up!” Hunter’s mother tells kids and parents living with 22q. “These children are capable of so much and will surprise you every day if you let them. Hunter is a funny and bright little boy with a big future!”
(posted January 14, 2021)
When Christine was diagnosed with 22q11.2 deletion at the age of 30, she finally had the answers to why her childhood had been so difficult. She and her newborn son were both diagnosed with 22q at the same time. If it had not been for her son’s diagnosis, Christine would not have known she had 22q. Although the diagnosis was upsetting, Christine says it’s been a blessing to walk through this journey with him as they learn how to face and overcome challenges while appreciating every moment they have together. It’s also helped her to understand certain events in her life and to accept herself the way she is.
Christine was born and raised in Auckland, New Zealand. She recently moved to Canterbury in Christ Church City, the South Island of New Zealand. This is Christine’s first time away from Auckland and it was her first time on a plane. Growing up, Christine enjoyed playing sports. She played netball with goal shoot being her favorite position.
As a child, Christine struggled with learning difficulties in school. She wasn’t interested in the things she was taught in school, so she searched for and found things she enjoyed like music and dance. Even today, Christine still loves music as she finds it very motivating and uplifting – it helps her make it through anything she faces including her most challenging days. Even though Christine labored in school, she was able to teach herself important reading and writing skills.
Although she struggled as a child in school, Christine has achieved success as an adult by earning two graduation certificates in business administration and hair dressing. Recently, she has become interested in personal training and hopes to complete her studies in this area in the near future. As an adult, Christine has learned how to handle her learning disabilities and to pursue a path that best suits her. She is always looking to enhance her learning and to focus more on the things that she can do.
Christine says her biggest accomplishment, as an adult is her spiritual journey. Becoming a Christian has healed her spiritually and helped her to achieve great things within the last few years. Christine’s faith has given her hope to know that she can do anything she puts her mind to. “Seeing the rewards with learning about myself and doing it on my own have been the biggest rewards in my life,” Christine says. “This has given me the ability to chase after my dreams and to make them come true.” One of her biggest dreams came true when she had her son. Because Christine has 22q, she can use her firsthand knowledge to help her son and to instill confidence in him. Within this past year, Christine obtained her driver’s license and bought a car. She is proud to have the ability to do this for herself and her son.
Christine has learned a lot growing up and living with 22q. “Listen to yourself and your inner voice and instincts,” she tells other people with 22q. “Use the tools you have learned over the years to succeed and to make a better future for yourself.” Christine also suggests surrounding yourself with people who accept you for who you are. And, to all of the single ladies out there, Christine has a special message. “Don’t settle for just anything,” she says. “Keep believing in what you want and deserve. This is a great time to pursue yourself and to chase after your dreams. You can do anything that you put your mind to.”
As she looks forward to the future, Christine wants to be the best person she can be for herself and her son. She hopes to provide her son with a good life.
(posted January 14, 2021)
Meet Jordan from Toronto, Canada! Jordan was diagnosed with the 22q11.2 Deletion at the age of 5 via a fish test and is now a 21-year-old published writer! He says his childhood was good even though he had some challenges to face like anxiety and social anxiety. “It was hard for me to make friends and there were a lot of kids that were mean to me,” he shared, but Jordan has found ways to cope.
As a child, he loved to ride his bike and play outside, but his hobby was writing. “I would color and write and spend time with my cat when I was growing up.” Some of the strategies that he found helped him the most were writing; coloring, and listening to my music, all of these continue to help him today. He is also very careful to eat properly and watch his weight.
Jordan was delayed by 3 years in speech and fine motor skills. “I couldn’t pronounce words with r in them,” said Jordan. His schooling was challenging. He was in locally developed classes and had an IEP, but was pulled from math and language classes and has a learning disability, although he was glad to have the help and support that he needed. He graduated high school and today is interested in writing and photography and currently working on a writing career that has already started to take root. At the age of 18, he wrote and published a book, “22q Through My Eyes,” and has appeared on TV to promote it. “I love to write because it lets me express my feelings no matter what emotion it is,” Jordan said.
Some of the goals Jordan has for his life include writing, photography, and later in life adopting a child. Jordan’s best advice to others with 22q is, “Always stand up for yourself, and believe in yourself.”
He continues to work on growing his writing career because as he says, “If I’m happy or sad, I can just write out my feelings.”
For more information on his book visit here , a genetic counselor website.
Enjelickiagh’s & Rebekiagh’s Story
(posted January 11, 2021)
I am the proud mama of two beautiful little 22q girls Enjelickiagh and Rebekiagh. They are identical twin 7-year-old girls with a wild heart. They were born in Iowa City, Iowa.
The girls were born 5 weeks premature due to pregnancy complications, they were born emergency C-Section after Rebekiaghs heart rate suddenly dropped and was no longer found on the monitors. Both girls from the very beginning showed their complete differences. Beka showed that she was strong, stubborn, and wildly independent. Whereas Enjelickiagh was a bit lazy, empathetic, and compassionate. After gaining the necessary weight Beka was allowed to leave the hospital while Enjel remained behind. Enjel struggled with eating, maintaining body temperature, heart spikes, and overall growth. After a month-long stay, Enjel was finally allowed to leave the hospital.
Then at 3 months old, I awoke one night to what sounded like a man coughing over the baby monitor. I was a single mother and was deeply scared that somehow, someway, somebody came into my home without me knowing and was about to harm my babies. After quickly touring their nursery I discovered Enjelickiagh who was in her crib, had started to turn blue. I called my mother, she quickly came bringing my brother to stay with Beka so we could drive to the hospital. After a long couple of months, we received a diagnosis of stridors and were referred to ENT. We were lucky to have an amazing ENT specialist that discovered several abnormalities during surgery to correct her stridors. He immediately referred her to Genetics where she tested positive for 22q11.2 Deletion Syndrome. A couple of months later Rebekiagh was tested and confirmed missing the same Dorsal portion of the 22nd Chromosome. According to the geneticist, their separation came extremely late, and therefore their DNA is almost completely identical. Even so, both girls both have their own list of issues and are on an extra caloric intake due to low weight. They both share the following issues:
Breathing difficulties (including APNEA- just underwent surgery for a deviated septum, partial adenoid and tonsil removal and partial Glossectomy, tongue removal). Gastrointestinal issues, lowered immunity, instability of C1 and C2 spine, Speech delays, tonsils removed, stridors, laryngeal webbing, do not make enamel – tooth decay, anxiety, and depression.
And separately, Enjelickiagh: PFO- hole in heart, Heart murmur and Scoliosis and Rebekiagh: Azygous Lobe
They recently we just completed surgery number 4 with flying colors!
School has been especially hard for them. They are bright and inquisitive, but due to frequent doctor appointments and illnesses (due to a lowered Immunity) they miss about 30 to 50 days of school per year. We attempt to supplement with at-home learning but often cover things already covered. Both girls attend regular public school and are happy little 2nd graders, however this year due to the pandemic, we have opted for homeschool online studies, they have been content on staying home and learning. Typically they are the smallest of their class and receive speech therapy through their school, even so, they continue to test well above benchmark.
The girls were once very active in many different sports and activities. Since many recent diagnoses, our activities have been limited to non-contact sports and any sport that manipulates the neck and spine. Due to Scoliosis, Enjel has even been limited in the types of yoga poses that she can do. They both love anything outdoors. They love the parks, playing with their animals, playing with their baby sister, riding their bikes, reading, and playing board games. Enjel enjoys swimming and dancing, as Beka likes to dance and draw pictures.
Of course like everyone we have challenges and we choose live one day at a time. We like to live within the moment and take on new stressors when they arise, this is easier with them because they still don’t quite understand. For myself as their mother, there are lots of tears, laughter, and celebration of all accomplishments. The day they started coloring I was in tears over the moon, I didn’t even care that it was all over the walls.
If you ask the girls what advice they give to other 22qties, they would say, “Keep your heads up kiddos. You are strong and brave.” Enjel: “I’m just like you!” Beka: “You can get through it”. As for me, the advice I would give parents is, “Keep your heads up. Life may be tough at times but it’s about the small moments that make life the most interesting. Celebrate the small things in life. And most of all take time for yourself, take time to grieve because we too need to expel some of the negative energy.”
My goals as a mom are the same as any parent, for my children to be happy, healthy (or as healthy as they can be), and to go on to be whomever they want to be. But as a mother of 22qties, my goal is for them to graduate high school with honors, go off to college, graduate, and become their own person. Whether that’s professional or parent or whatever, as long as they are happy.
Wishing everyone a Happy New Year from our family to yours!
(posted December 8, 2020)
Aine Keogh and her son, Ciaran, were both born with 22q11.2, which she quotes as the “most common rare syndrome you’ve never heard of”. Aine had a lot of the textbook symptoms growing up and had become used to dealing with them in her own way. The main symptom that impacted her daily life was speech delay, which was caused by a cleft palate. According to Aine, her everyday life was tough due to the delay, and she eventually had cleft palate surgery at the age of 6. Her surgery was followed by intensive speech therapy. Following surgery, her life became somewhat easier, but she did tend to get sick more often than her siblings and she always wondered why. You see, even know Aine was born with the condition; she did not get diagnosed until the age of 21. At the time of her diagnosis, doctors and consultants did not know much about 22q, which made Aine’s world shatter.
Aine’s son Ciaran is 12 years old and has 22q. Once Aine learned that Ciaran had it as well, she was determined to do her own research and make a better situation for them both. Aine took it upon herself to join support groups (Max Appeal, 22q Ireland, 22q Northern Ireland) and through these online groups they met amazing people who suffer from the same challenges. Aine has learned through the support of her new 22q friends that this diagnosis does not define you and she strives to continue to raise awareness and turn her situation in a positive for both her and her son. Ciaran was born with a serious heart condition and has had to endure 10 surgeries throughout his life. He also has had a cleft palate surgery and struggles with a global development delay, speech delay, and low immune system – which are all symptoms of 22q. According to Aine, “Ciaran has come along so well in so many ways and does not let anything get him down”. Ciaran, as recent as July 2020, had an open-heart surgery and had major complications where he ended up on life support. However, with the power of prayer and strength, Ciaran pulled through and is home with his family today. He was able to graduate from primary school back in September, which is a huge accomplishment, and we know that he will continue to thrive with the support of his mom.
Aine is 33 years old, and currently resides in Northern Ireland. She has passed her level 2 and 3 diplomas in childcare, and her goal is to help other children who have special learning needs since she understands what they go through daily. She is learning to drive and is working to overcome her anxiety. Even though there are still going to be a lot of things that they will have to face in the future in regards to Ciaran’s health needs; they know that with the help and support they will both get through it!
(posted December 8, 2020 )
My name is Aidan and I am 15 years old (16 on Nov 28). I was born in San Diego where I still live. My dad is an Occupational Therapist and the Therapy Services Supervisor of the San Diego Unified School District. My mom is a muralist, a writer and the founder of the Flourishing Families Guide for families in San Diego with children with disabilities. It has 1200 resources and she has been working with the San Diego Family Magazine to produce it for 13 years. My brother is an upright bassist in one classical and five jazz ensembles. He is a senior in high school.
I like gaming online, animals (especially dogs), gardening and cooking. I go to a non-public school for kids with mental health challenges. It allows me to learn in a less stressful environment and to take a little longer to get my diploma if I need it. I like traveling, Hawaii, camping and hotels with soft beds. I wish I could go on vacation more often, but we need to save up. I like shows about animals and survival.
I have two best friends who have Autism, but they are very different. Both of them have parents who are divorced. My friend Soren, who lives with his mom, is quiet and smart and is very patient with me. He likes Minecraft and building things. He travels to Europe a lot. My friend Aidan C. loves Mario and Pokémon and he lives mostly with his dad and grandpa and sometimes his mom. They do a lot of fishing and camping. I have other friends, but these are my best ones.
When I was born, I was very sick and couldn’t breathe. They took me to a hospital that specializes in lung transplants. There, a genetics doctor noticed features on my face looked like other kids with 22q 11. Deletion Syndrome, then called DiGeorge Syndrome. After my diagnosis was confirmed by FISH test, I was sent to a hospital known for heart surgery and they helped reconnect one branch of my pulmonary artery, which was wrongly attached to my aorta, back to my lung. This is called truncus arteriosus. I have also had inguinal surgery, multiple ear tube surgeries, a couple of bone breaks and full rod implants to correct my scoliosis and kyphosis. I am a surgery champ.
I learned the most about how 22q affects my brain at the MIND Institute at UC Davis. Dr. Simon and his doctors let me be part of a study about stress and how the brain works. My mom and dad learned a lot and so did I.
I was fully included in a regular school until 7th grade. I was doing well in school until 6th grade when the amount of schoolwork and homework got to be too much. I started throwing up every day and I moved to a non-public school with smaller classes. I have an IEP that lets me use tools like a calculator and a computer to type instead of handwriting. It is easier for me to type. I can take as long as I need to get assignments done and a few extra years to graduate if I need it. I like science. I don’t enjoy math and PE because I don’t like it when people are aggressive.
At my new school, there is a social skills group where I can talk to friends about my worries and we have jobs we get paid for. I miss all my friends at my old school, but I made a lot of new friends and there is a lot less stress.
Growing up, I played baseball and went to Cub Scouts, but I did not like the same things as the other kids, so I had to find ways to have fun. I have a trampoline, a stationary bike and a hot tub I use daily. I like to go on walks with my dad in our neighborhood. We like to travel to national and state parks. My family likes to hike, but I do not. I go to be with them, but I like s’mores and camping. Sometimes we go to the ocean. I like to play close to the shore. I have a fish tank with five fish, three snails and some plants. I like to play video games and I have a lot of stuffed animals.
I have received several awards for GRIT for sticking with things I don’t like to do. I have received awards for science because I had a super cool science teacher who didn’t get mad at me for speaking out in class and who let me help with experiments. I just got an award for art that is also mostly for GRIT. I don’t really like art, but I try really hard and my mom helps me look at projects I don’t like in different ways, like using seashells I collected in northern California to make a fish shape on wood.
I am proudest of how I survived so many surgeries and that I am a super good friend. Being kind is a very good trait to have.
I don’t think about my 22q much. I can’t change it. The only time I get frustrated is when my brain doesn’t let me think clearly, or when it tells me things that aren’t true, but it’s ok to take a break and ask for help when that happens. Sometimes I get super scared for no reason. This completely sucks when it happens. I just need a lot of hugs and to be close to my family when this happens. It usually happens when I get too stressed out.
I take medicine to focus and to lower stress. I am better when I take this medicine. I would tell parents not to be afraid of medicine, as long as you have a safe place with friends to talk about feelings too.
I was super scared about back surgery because they cut down my whole back, but it was the best surgery I ever had. The pain went away and it made it so much easier to sit comfortably. I am so glad I did it. I would tell kids not to be afraid of surgery because it might hurt for a little bit, but your life is better afterward. I have a garden with all my scoliosis braces planted with strawberries. It’s like a happy graveyard. I don’t have to wear them anymore.
You don’t always have to come in first or win awards. You are not just a superstar if you are great at something. Sometimes it’s super to be the person who encourages other people to win or to not feel bad for not winning. That is one of my strengths.
I want to have my own apartment and a dog. I’d like to have a job to make enough money to play games and have fun with friends. I want to be close to my family and to travel to fun places.
I have to be honest. I do not want to go to college. I like my teachers and my friends, but I don’t really like school and I can’t wait for it to be over. I’d like to have a job taking care of animals. It doesn’t matter to me if I’m rich. I just want to be near people I love.
Covid has been hard because I can’t see my friends in person, but my mom and dad relaxed the computer rules so that I can spend time talking to them online. I am happiest when I am making friends laugh and smile. Having friends and love in my life is what is most important to me.
(posted December 8, 2020 )
As a mother to five-year old 22qtie Owen, Nicole advises other parents of children with 22q to never give up. “Treat your child like he doesn’t have a diagnosis, put them into activities, read to them and discipline them like you would anyone else,” she suggests. “If you are offered advice or programs to help you to help your child, do it. Any education you can possibly get to help in any aspect is great. It gives you an understanding that you have to be patient, kind and never give up.”
Nicole’s son, Owen, was born in St. John’s, Newfoundland, Canada. He received his 22q diagnosis at the age of two months. After his birth, Owen wasn’t able to breastfeed due to his soft cleft palate. As a result, he underwent some blood tests and was referred to a geneticist for further testing. It was then discovered that Owen had 22q.
Owen has had a good childhood. He has twin brothers who are 2 ½ years old. Because of his diagnosis, Owen has undergone physiological, speech and occupational therapy and has achieved many successes in these areas. He wasn’t speaking at age 3, but, according to his mother, he has come a long way in the last two years and is getting better every day.
Owen reached another milestone in September when he started school. He is in a class with 17 kids and has a student aid assistant. Owen also continues to receive speech therapy. Nicole says Owen seems to be enjoying his days and participates in all class activities. The highlight of his school day is riding the school bus!
Outside of school, Owen plays soccer and swims. When he’s participating in these activities, it takes him a little bit of time to get focused, but once he does, he enjoys it.
Nicole says Owen is full of life. His family looks forward to continuing to see him flourish as he learns and navigates life.
(posted December 5, 2020)
Chase is a 9-year-old little boy. He was diagnosed with a CHD when he was a few days old. He has Truncus Arteriosus and VSD and has had four open-heart surgeries. Despite all the hardships he battles daily, he is a smart, loving, caring little boy who can light up a room. He has some learning disabilities, but even so, he loves school and loves to meet new people. He was diagnosed with 22q11.2 deletion syndrome when he was a few weeks old and has had to go to therapy for speech and fine motor skills for years. Chase started preschool at 3 1/2 years old and is now in a special day class and tries very hard.
Recently in July 2020 he was diagnosed with endocarditis (an infection caused by inflammation in the heart’s inner lining) and had to stay in the hospital for 75 days. Within that time, he was treated for his infection and had his valve replacement. We are home but he is still very sick, recovering from his infection. He has been on lots of medication, 3x daily, weekly weigh-ins, blood draws along with weekly and biweekly doctor appointments. Despite everything he has gone through and continues to go through he is a fighter and we are very proud of him.
(posted December 3, 2020)
Evan was diagnosed with 22q when he was three days old. When his 24-hour oxygen screen came back low, Evan was taken to the NICU where the doctors discovered he had a boot-shaped heart, an indicator for tetralogy of Fallot (TOF). After genetic screening, Evan was diagnosed with 22q. He had surgery when he was 16 days old to correct his TOF. Now, at 5 ½ years old, Evan currently is healthy and only requires yearly cardiology check-ups. So far, he has had a good childhood growing up in Syracuse, New York.
Like most children his age, Evan is in kindergarten. He previously attended a year of preschool. Evan currently is in a blended classroom so he can get help with his speech. Speech has been Evan’s biggest challenge, but he has almost caught up with the rest of his class. Improving his speech has been one of Evan’s biggest accomplishments.
Evan loves being outside. He enjoys swimming and driving his power wheels cars. Going to his uncle’s camp in the woods is one of Evan’s favorite things to do.
As Evan looks toward the future, he plans to keep going and never give up – advice that he and his family would like to share with other children living with 22q. Evan’s immediate goal is to finish kindergarten.
(Posted November 7, 2020)
Cash was both on February 10, 2019, in Bar Harbor, Maine. He was an extremely easy going and happy baby but we could immediately tell there was something a little different about him but nothing that anybody could really put their finger on. Everything we had concerns about was deemed, as “a little odd” but not overly concerning but the most concerning was the fact that he had an inability to cry. He also was very small, had some flattening of his head, as well as some upper body weakness. We first received the diagnosis on Friday the 13th 2019 when he was 6 months old and immediately everything seemed to click. We are very blessed with a great pediatrician who has a very proactive approach so Cash had already been in physical therapy since he was a month old and was already involved with many specialists. However, after his diagnosis, we were able to get the proper specialists involved and had a clear idea of what to look out for. As far as medical procedures he had a bronchoscopy, under anesthesia, to diagnose the tracheomalacia and laryngomalacia, and a small hypospadias repair and are keeping an eye on his ASD and coronary artery and will perform surgery if they feel they are getting worse. But as of now, no major physical medical issues!
Unfortunately, due to COVID-19 Cash is not able to go to daycare or preschool but the upside of that is he gets to enjoy a lot of time with his Gam Gam. Currently, Cash is involved in an early intervention program for his speech delay and will be seeing an OT. He was just recently discharged from Physical Therapy as they felt he was showing enough strength on his own! At 21 months old, he’s an extremely active toddler, always running and climbing, he loves playing outside and is always on the go! He loves music and playing guitar with his daddy, big trucks and tractors, Mickey Mouse, his dogs Zeppelin and Wrigley, and cats Bodhi and Hobbes. He is in such a happy mood all the time, he’s silly and laughs all the time.
We are thankful that he is currently not on any medications, but he has a hard time gaining weight so he is still on formula, and has some high calorie shakes to help him gain. His favorite foods are waffles, grilled cheese, and blueberry muffins all of which just recently helped him hit 20 pounds, we are so proud of him for that!
We are so proud of Cash’s ability to walk, run, and climb! He was extremely weak and had a very hard time sitting up and rolling over. He worked very hard at physical therapy to get to where he is today, our next step is focusing on his speech, and we hope to hear him talking soon!
Cash is such a happy positive little boy and nothing seems to faze him! He takes everything in stride and it makes it all that much easier for us as parents to handle anything that comes our way. My advice to other parents is, “Never stop advocating for your child, and reach out to other parents of 22q children as well, the support system has been truly amazing!”
(Posted November 3, 2020)
Childhood with Addison was different, challenging, and exciting. She is my first and only child. Addison was having trouble breastfeeding, latching on, and gaining weight. She actually dropped a few ounces, which had us concerned. At her two-week well check-up, her doctor discovered a heart murmur. Then with later testing, she had developed a PFO and ASD. After that with genetic testing came back that she and I (her mother) had 22q11.2 microdeletion syndrome also known as DiGeorge Syndrome.
Primary through Elementary school, Addison was working with PT, OT, and speech. In preschool, we lived in Florida where speech and occupational therapy came to the school but physical therapy was done at home. We moved to North Carolina and her primary to elementary school years Addison has been on a 504 and IEP. She is now in middle school and still has both services as well as an EC teacher that helps with all subjects. We still have many obstacles to face as school gets harder, but Addi’s team is confident she will be independently working by the time she is in the tenth grade.
Addison attends the local public middle school but now, with Covid-19, it is all virtual, and she is doing well. Knowing the challenges to come our way we just stay as educated, and positive as possible. Addison is very active in dance, she does ballet, tap, and jazz. She loves swimming and is planning to play softball this spring. Besides those hobbies, she loves making tictoks with her cousins.
Currently, Addison doesn’t have any medical conditions other than her 22q diagnosis, she goes to cardiology every two years, and Genetics once a year. She also doesn’t have any major dietary needs however we include a lot of fiber, and protein in her diet as well as drinking a lot of water, she has never touched soda but, loves Gatorade.
I am most proud of how hard she works at school and her attitude to always help others. She just made a great accomplishment, after her first audition for The Nutcracker, she made a solo part as well as with Ensemble. She has two parts, and is in both shows this year!!!! We are beyond proud!
I have many goals for Addison’s future but my main ones include for her to stay healthy and happy, to see her graduate high school, and attend a 4-year college or university. I would also love to see her become a successful veterinarian since that’s what she’s wanted to be since she was little.
If I could give my advice to other children with 22q I would like to say, “Always be positive, stay focused, and when it gets hard don’t quit. Always be yourself, God made each of us unique in his own way. Also, be kind, be patient, and follow your dreams.”
(posted November 3, 2020)
Amelia was diagnosed with 22q when her mother, Holly, was 22 weeks pregnant. Amelia’s biological father has the syndrome, so Holly wanted to be tested so she could prepare. Amelia was born in Omaha, Nebraska and currently is five years old.
When Amelia was six days old, she underwent open-heart surgery. She also had a catheter procedure at six months. Amelia will need another open-heart surgery, but she probably won’t have it until she’s 8 or 9 years old. Amelia has encountered other medical issues as well. When Amelia was younger, Holly noticed that she snored a lot. Amelia participated in a sleep study and was diagnosed with moderate sleep apnea. To help this problem, doctors removed Amelia’s tonsils and shaved her adenoids when she was two years old. Amelia’s family didn’t realize it at the time, but the surgery caused Amelia to lose her hearing. Because of the hearing loss, Amelia couldn’t talk properly anymore. Unfortunately, Amelia’s doctor wouldn’t try to find the answers to her problems. Eventually, Holly got frustrated and found another doctor. The new doctor tested Amelia’s hearing and discovered her eardrums weren’t vibrating and she needed tubes. After a five minute surgery and two years without answers, Amelia could suddenly hear again! As a result of regaining her hearing, Amelia’s speech is finally progressing. She still has mild sleep apnea, but sleeps with a C-PAP, which she tolerates really well. Also, about a year ago, Amelia underwent scoliosis surgery, her back had a 60-degree curve, and while her spine was getting longer from her growing, she wasn’t getting taller. Amelia has been relatively pain free since the surgery.
Amelia has done pretty well in school. Her biggest challenge seems to be making friends. Holly has allowed Amelia to participate in all of the activities she’s allowed her other children who don’t have 22q to do. Amelia has gone to zoos, fairs, hockey games, car shows, parades and motorcycle shows. Holly’s goal for Amelia is to live a normal life. And, according to Holly, Amelia always has a smile on her face no matter what she’s going through at the time.
Holly wants other children growing up with 22q to never give up. She says, “Face any challenge that comes your way because you will be stronger when you come out the other end.”
(posted November 3, 2020)
As a mom of a child with 22q, Cassie’s goals for her son, Lee, are similar to those of any mother. She wants him to finish school and to achieve any dreams he has, as he grows older. Lee was born in Moultrie, Georgia in November of 2013. After his birth, the doctors discovered that Lee had congenital heart defects, which led to genetic testing. He was diagnosed with 22q11.2 deletion syndrome when he was one week old.
In his almost seven years of life, Lee has had two open heart surgeries, a feeding tube, Lovenox shots at home, several heart catheters, VPI surgery, been in the operating room four times for dental issues and has been hospitalized many times due to things such as viruses, parainfluenza and seizures. Lee has many specialists that follow his care including a cardiologist, immunologist, neurologist, dentist and craniofacial/speech therapist.
Lee currently attends kindergarten via remote learning. He works on the computer with Cassie and his class, which includes other remote learners and a teacher. They have daily Zoom meetings. Lee began attending a public school preschool program when he was three years old. The school provides early intervention for children with special needs. Due to his attention and memory issues, Lee struggles in school. He also misses a lot of days and months due to illness and surgeries. Because of Lee’s weak immune system, even a common cold can put him in the hospital.
Lee enjoys being outdoors and riding his four-wheeler. He also rides on a motorcycle with his dad. Before his second open heart surgery, Lee participated in tae kwon do.
Cassie says Lee’s biggest accomplishment is surviving two open-heart surgeries. He and his family also are proud of him writing his name unassisted and learning to ride his four-wheeler by himself.
As Lee grows older, Cassie is trying to teach him that there are many struggles in life, but you have to keep trying and never give up. She is very impressed by her son and his accomplishments. “He amazes me every day with what he can do and he doesn’t let anything stop him,” Cassie says with immense pride.
(posted October 2020)
In the eyes of his parents, “Our son Maximus is an absolute miracle, that took many years of hope and faith. Our journey begins with his mother Milagros, which means miracle in Spanish, always determined to make her dreams a reality. We did IVF and found an amazing surrogate and family that sacrificed their lives to make a life for us.”
Maximus who is now 4 years old, was born in Mount Pleasant, SC, He is a sweet boy and is growing big and strong. His parents began to notice that eye contact and responding wasn’t happening, he started speech, music, occupational therapy, applied behavioral analysis and preschool for early intervention around 18 months old. He was diagnosed with autism spectrum disorder with speech developmental delay with 22q11.21 duplication with no major medical conditions. Maximus did have fluid in both ears that required surgery and tubes implanted.
He loves playing at the playground and with friends at school, he enjoys the outdoors and amusement parks. He spends his time outside, playing with toys, reading books, and sensory play.
The family says they spend lots of time with early intervention, practice lots of patience, prayer, redirections, and frustration. “We are slowly seeing milestones being met, we work hard every day, he just started saying momma and dada for the first time!” Maximus’ dad says they have used lots of determination, lots of love, and confidence. He reminds us that, “Everyone needs to try and understand your child’s frustrations, be patient, have empathy and love strong.”
Health is always a concern so his diet limits gluten and dairy using more organic-based foods but of course, cake!!! Maximus loves daddy and mommy and their goals for him are to keep him healthy and happy and, “Always continue to strive to be the best he can be, with the guidance of his parents and faith in God.”
As Maximus’ dad says, “I wouldn’t change anything about him for the world, but I would change the world for him!”
(posted October 2020)
Maddy was born in Cleveland, Ohio and is 25 years old. She was about three months old when her family received the news of her 22q diagnosis. At seven weeks of age, Maddy had open-heart surgery at Cleveland Clinic to repair her Ventricular Septal Defect. Unfortunately, she had many complications from the surgery, briefly underwent dialysis and spent 10 days in the hospital. Maddy’s heart specialist recommended that she have genetic testing. At that time, Cleveland Clinic did not have a geneticist on staff, so the family went to Rainbow Babies and Children’s Hospital. This is when Maddy was diagnosed with 22q. Maddy also has Cerebral Palsy. Her family thinks this may be the result of the complications from her heart surgery.
School was challenging for Maddy. Her family did a lot of research on 22q and presented their findings to the school psychologist. As a result, Maddy was given an IEP and was able to get the extra help she needed. In addition to the developmental delays Maddy experienced, she also struggled with math, logic and reasoning. Based on the family’s research, they believed Maddy eventually would catch up with her peers, but they weren’t sure when that would happen.
While she was growing up, Maddy enjoyed playing softball. She played in a summer recreational league. Maddy also twirled competitive baton and went to many competitions including nationals. She enjoyed reading so much that she was a summer reading tutor with her community’s library system and even taught her younger sister how to read. Maddy also worked as a volunteer camp counselor at a local day camp.
After graduating from high school, Maddy applied to Ursuline College. She was advised to go to a community college first and then to apply to Ursuline later, so Maddy went to Lakeland Community College for two years and then to Ursuline. Because of her love of reading and writing, Maddy initially pursued a degree in English. However, she found her true calling in the social work program at Ursuline. Maddy currently is a senior and has an internship with a local agency. She has been very active in college. Maddy was a member of the Orientation Team at Ursuline and participated in the AIMS program that paired an upper classman with a freshman who needed extra support. She also worked in Ursuline’s Ringers Program where she was responsible for calling prospective students and telling them about the school’s programs. Maddy’s ultimate goals are to obtain her social work license and to help other children with developmental disabilities succeed in school.
As Maddy continues to pursue a degree in social work, she also aspires to be a writer. She already has many stories outlined. She wants to encourage individuals living with 22q that you don’t have to be afraid to ask for help when you need it. This is great advice for anyone!
(posted October 2020)
Katie is 25 years old and was born in St. Croix Falls, WI. She currently lives in Balsam Lake, WI with her mother and stepfather. Katie says her childhood was normal. Her mom and dad were divorced, so she would spend every other weekend with her dad. Katie also spent a lot of time with her grandmother with whom she created a close bond.
Katie was diagnosed with 22q at the age of six months. According to Katie’s mom, she was born after a non-eventful, full-term pregnancy. The only problems Katie had at birth were an inability to latch on when feeding and hip dysplasia. However, when she was in the nursery, Katie was diagnosed with a soft cleft palate and a heart murmur. Otherwise, her stats were fine and she was released and sent to a children’s hospital two days after her birth. Katie was examined by a pediatric cardiologist at the children’s hospital and was diagnosed with Tetralogy of Fallout and would require surgery when she was six months old. Also, Katie was scheduled to have surgery when she was nine months old for her soft cleft palate. Finally, during her first week of life, Katie was fitted for a brace for her hip dysplasia. Over the next few months, Katie saw the cardiologist monthly and the orthopedist for brace adjustments. It wasn’t until Katie was six months old when she was diagnosed with DiGeorge Syndrome. The diagnosis came about one month prior to her first heart surgery. Katie is scheduled to have her fourth heart surgery in December of this year. Her last surgery was five years ago.
Growing up, Katie achieved most of her developmental milestones on time. She walked a little later at 14 months but had already had two open heart surgeries by that time. Katie’s speech wasn’t developing as it should, so she had weekly speech therapy until she was four years old and her mother learned sign language to communicate with her. Katie’s speech was perfect after she had pharyngeal flap surgery for her pharyngeal incompetence. She also had scoliosis and wore a brace for six years. “This didn’t help her self confidence, but she handled it like a champ!” exclaims Katie’s mom.
Even though she was mainstreamed in school, Katie faced some challenges. School wasn’t easy both academically and socially for her, but she still graduated with her class and finished one year of college at the University of Wisconsin Barron County in Rice Lake, WI. Katie struggled with math and comprehension. It took Katie longer to learn and retain information. As a result, her college math professor tutored her. Also, according to Katie’s mother, she was slower to develop the social skills of her peers. As an adult, Katie continues to struggle with social and emotional issues as well as depression and anxiety. Katie’s mom says that she has a wonderful and sweet personality but a short fuse. Katie admits she gets frustrated and upset easily, but she’s continuing to work on improving in this area. Katie’s mom raves about her, “Katie makes me proud every day. She’s a brave young lady that despite many obstacles, she endures every day and pushes through. She is the first one to help when possible. She’s so kind and caring.”
As a child, Katie enjoyed riding four-wheelers and swimming. Today she spends a lot of time with her nieces and nephews. “Katie is an amazing auntie,” brags her mom. Despite her struggles with math, Katie works full time as a bank teller. Her current hobbies are reading, watching Netflix and cooking on occasion. She hopes to have a family of her own one day, either naturally or by adoption.
Katie recommends that children growing up with 22q find a camp to attend where they can meet new people. She attended Camp Odayin for children with heart defects for eight years where she met a lot of people like her herself and made lifelong friends including someone who also has 22q. “It’s ok to be different,” Katie explains. “I use to feel alone or odd, but now I just act like myself. I think going to camp and meeting more people from around the world helped me realize that not everyone is the same.”
(posted September 2020)
Kahlia (pronounced like the flower Dahlia but with a “K”) was born in Pune, India on September 25, 2008. She became a part of our forever family on May 9, 2010. We were unaware of her 22q11.2 deletion syndrome. We were told that she had a heart condition called Tetralogy of Fallot, a cleft palate, and had chronic and serious ear infections.
At 19 months old, Kahlia was so weak, she did not even have the strength to sit up on her own. She couldn’t walk, talk, or even crawl, she wore a size 0 shoe. She was able to do a slight army crawl, but even that was labored and cumbersome. Her finger nails and toe nails were clubbed and purple. Her skin was darker than “normal”. At her Cardiology apptointment scheduled just two hours after we landed in Portland, OR, and after a 20 hour flight from India, her doctor took one look at her and told us she was certain she had 22q11.2 deletion syndrome. What was that? Within a week we had a confirmed diagnosis. Over the next 4 ½ months, Kahlia had a pic line for 2 weeks clearing up the e coli in her ears, she had 2 cath heart procedures to buy us time, and she had lots and lots of love and nutrients to help get her strong enough to survive her desperately needed open heart surgery. I do not believe she would have survived much longer without it. Immediately following her surgery, her finger and toe nails turned pink, and her health improved. Just over 2 months later, she underwent her first cleft palate surgery, 2010 was a traumatic year for our Kahlia.
Finally, at 2 ½ years old, Kahlia was strong enough to take her first steps. She was still not able to formulate words, and we began teaching her sign language to help communicate. We soon realized that her first cleft palate surgery was not successful as there was still a small hole in the roof of her mouth making it impossible for her to formulate sounds and words. We were finally able to schedule her 2nd cleft palate surgery at the age of 5. Slowly she began to speak – such an answer to our prayers!
Kahlia underwent her 2nd open heart surgery 4 years ago – at the age of 7. This time to replace her heart valve that was destroyed during her first repair. We hope that is her final open heart surgery for a very long time. Doctors hope that the next 2 valve replacement surgeries can be done through a cath procedure.
Kahlia is a happy, healthy, spunky 11 almost 12 year old that keeps us on our toes. She struggles a lot academically, socially, and emotionally. She learns differently and slower than the other kids, so understandably it has caused a lot of stress and frustration. She often questions why she was born “this way”. Even before this Pandemic, we had planned to homeschool her this fall for her first year of Middle school. She especially struggles with Math and any kind of abstract concepts, but boy does she LOVE to read!
Because of her low muscle tone and often tires easily, sports has never really been her thing. However, she has a love for music, and has found that she is quite good at playing the piano – by far her greatest accomplishment!! She enjoys getting better, and loves the positive reinforcement she has received from teachers, classmates, friends, and family. She has participated in school talent shows and piano recitals every year. As she often struggles with self esteem, she found comfort in Lauren Daigle’s song “You Say” to the point of bringing her to tears. That fall of 2018, her piano teacher found a piano piece of that song. She practiced all school year and played it for her school talent show that spring of 2019. We were all so proud of her!!
Kahlia’s story is still being written. She turns 12 in September, starts 6th grade, with her teen years ahead of her. We hope and pray that Kahlia will find her little niche in this world. No one who spends any time around Kahlia is deprived of her hugs – she gives them openly, freely, and in great amounts!! She is dearly loved.
(posted September 2020)
Shelby is 17 years old, born in Michigan, but moved to Alabama the week of her first birthday. A cardiologist has always been a part of her life, but she was 2 before we received the diagnosis for 22q deletion syndrome. Children’s Hospital of Alabama was a home away from when she was younger, traveling back and forth sometimes up to 7 times a month for doctor appointments and surgeries. Conditions and specialists have come and gone over the years, but cardiology remains the same and now endocrinology, for hypo parathyroid, is a part of regular care. This past January Shelby had knee surgery for patella stabilization, her kneecap would frequently slip out of place and cause her to fall, she is now walking with her kneecap staying in place. We are at a stage of dealing with finding new specialists out of the pediatric care, this is a little scary after all this time having built trust and relationships with current doctors.
Shelby started with early intervention and then transitioned into public school where she stayed until 3rd grade, we then started homeschooling which made illness and doctor appointments much easier to manage along with learning what she needed at her pace. Shelby will start her senior year this August. Shelby was a girl scout from first-year brownie to 1st-year senior, earning both bronze and silver awards and meeting the Alabama Governor for the silver award at the capital. Other childhood activities include karate, horseback riding, and volunteer work. Shelby started quilting when she was 11 years old with the Ladybug quilters group. After her first quilt was complete Shelby started to donate each quilt thereafter for cancer and 22q. When the 22q clinic at Children’s of Alabama opened, Shelby was one of the first to be seen and donated a quilt to the clinic. 22q quilts have been sent out of state and some have stayed here in Alabama. A journal was just started by Shelby to keep track of her quilts, the pattern, the quilt number, and where they go to. It is such a joy when we get a picture of the person with the quilt. Currently, quilts number #27, #28, #29 are in the works. Each quilt has a label that has Shelby’s name, quilt #, year completed, and for the 22q quilts a quote she has adopted, “I have 22q, but 22q doesn’t have me.” All of Shelby’s quilts are blessed before they are given away. Shelby has taught others to quilt over the past year. Shelby also likes crafts of all kinds including drawing and painting and has started vegetable gardening this year. Shelby has a goal of becoming an interior designer, she has designed 2 bedrooms and a bathroom so far, and is being referred for evaluation for the type of college or further education will be best for her.
Camping with family is a wonderful way to spend time, especially with the current covid19 situation. Shelby does not care where we go camping she truly enjoys it all. We have camped close to home and as far as Fort Wilderness at Disney World, camping in wooded areas and beaches. When Shelby was younger, we had a tow-behind, and she shared a space with her older brother. Currently, we have upgraded to a 5th wheel, and with big brother away at college, Shelby has her own room and full bath. Some activities we do while camping are bike riding, hiking, puzzles, and Shelby likes to have a latch hook kit to work on, she also likes to help plan the meals for all our camping trips.
Shelby is a positive girl, once she is set on something, she works hard to see it through. Not everything comes easy but with hard work, she usually reaches her goal. We have traveled through the years to different 22q conferences, the international 22q conference at Disney and her favorite which is Children’s Nationwide in Ohio where she gets to be with teens her age all day. We do our best to reach out and connect with other 22q families, sharing what we can and making new friends along the way. Shelby has had a voice in her health care from a young age and she is great at explaining 22q to whomever she meets.
(posted September 2020)
My name is Zachary Schwanke, I was born on February 19, 2001, and am currently 19 years old. I was diagnosed with 22q when I was in the hospital. My childhood was rough I was always getting sick and missed out on a lot of things during school and special events. I had to have two leg surgeries on my right leg and I was homeschooled for about a year before returning to regular school. Then I want to Clara’s house to help with major depression and anxiety, I had self-harm and some mental health issues. Today I am still dealing with mental health issues and panic attacks and random outbursts of anger but am working on decreasing it.
School was hard for me. When I was in elementary school I remember one day I was in math, there was this para-pro and oh I did not like her. I was working on a math problem and after I completed it I went up to the teacher to see if it was right, they said it was incorrect, so I went back to my seat and tried again, I repeated the process a few times and then they said, “you didn’t erase the answer you just came up with the same answer again”, I had clearly erased it. So at that point I was getting frustrated and ended up ripping the page in a million pieces and stormed out of the room, I went to my case manager’s room and played on the computer the rest of the school day. Another time in middle school I had a teacher that made me dig through the garbage for a missing assignment that she claimed I threw away. The teacher had said please put them on my desk, even though at the beginning of the year she said don’t put anything on my desk, I was frustrated at that point too! So elementary, middle school, and freshmen and sophomore year of high school were rough for me, but my junior and senior year of high school where awesome! I got my first girlfriend, I worked on computers, I found major security flaws in the schools networking system, I made new friends and made friends with teachers! I even snagged my way out of some assignments I didn’t want to do because I was friends with the teachers, lol. I had an awesome junior and senior year.
I enjoy swimming, golfing and repairing computers, but I also did some cooking, baking and playing video games and of course made time to play with my pets. Nowadays I am repairing computers, every once in a while I have a part-time YouTube channel where I have 10,230 views and 40 subscribers. I also do video editing with Photoshop, make short films and still cook and bake!
Don’t worry about being single or making friends they will come to you just be the best of yourself like I learned to do. My last two years of high school got me pretty much all the friends I wanted.
I did not go to college but plan on doing so. In the future I would like to do something with computers, either graphics design, make movies, design logos or computer networking.
Lastly, if you would to get a hold of me you can contact me on Facebook I’m always looking to meeting new people.
(posted September 2020)
Liz is 34 years old and was born in Denver, Colorado. She was born six weeks premature with VSD, extra digits on each foot, closed eye tear canals and many other anomalies. Liz was originally diagnosed in Denver with DiGeorge Syndrome which eventually was named 22q at the University of Chicago Genetics Department when she entered the PACE program in Evanston, Illinois in 2003, 19 years after her birth.
Liz had a fun childhood. Her mother and father adored her and sought activities to enhance her life. Liz skied in the Winter Park disabled program. She also took piano lessons and participated on running, swimming and cross-country teams.
School was extremely difficult and challenging for Liz. She was in the special education program. Her parents were very active with her education ensuring that Liz received all of the help she needed. They provided her with a tutor and various types of therapy including Tomatis therapy and speech, eye and sensory therapy.
After graduating from high school, Liz enrolled in the PACE program at National Louis University in Illinois and graduated. While she was attending the university, Liz lived in the dorms and learned how to communicate and get along with others.
Liz is proud of several accomplishments in her life including graduating from high school and PACE, meeting her husband Josh and her involvement with Special Olympics. After participating in Special Olympics, Liz is now a Global Messenger. She has given several speeches to organizations explaining the benefits of joining Special Olympics.
Liz is extremely grateful for the love and care she has received from her parents and husband along with the therapy and medical support. She feels fortunate to have loving and supportive people in her life who are willing to help her in any way they can.
When offering advice to others growing up and living with 22q, Liz says, “Take it day by day.” As she looks toward the future and takes it day by day, Liz hopes to continue to be a good wife, good citizen and good Global Messenger.
(posted September 2020)
Caroline’s diagnosis began at about 3 months of pregnancy. Her umbilical cord had a defect, which triggered the doctors to check her heart. So, the first diagnosis came in as Tetrology of Fallot. From there, the doctors ran genetic testing, and we were referred to CHOP (The Children’s Hospital of Philadelphia). At about 5 months of pregnancy (in utero), we found out that baby Caroline had a 22q deletion, which neither parent has. From the ultrasound, it looked like she had fluid in her cerebellum, her limbs were shorter than normal limbs, and she had scoliosis, as well as tetrology of fallot.
Skipping ahead to her delivery Caroline’s heart couldn’t handle regular childbirth so she was born cesarean. At birth, Caroline’s heart was functioning well enough, that after 2 weeks, she was released to try and let her body put some weight on to better handle heart surgery. Her limbs were normal, and the fluid in the cerebellum subsided. Thank Goodness! At exactly 1 month, Caroline stopped breathing, and had to have CPR given until she got to the hospital. She had open-heart surgery at 1 month. That held her until 9 months, when she needed a 2nd open-heart surgery. And then, Caroline needed yet another surgery… her 3rd open-heart surgery was at 18 months old. She has been a trooper through it all, and continues to reach milestones we weren’t sure she would ever reach.
Caroline is now 3 years old; she has physical therapy 3 times a week, due to her scoliosis and her hips and legs. She doesn’t speak very much, but she does sign (sign language) very well. She has trouble gaining weight, which has hospitalized her once so far for failure to thrive. Because of her very tiny appetite, she does have a feeding tube, and gets 5 feeds a day. We just found out she also has Neurofibromatosis type 1, which has nothing to do with 22q but does impact her scoliosis and her hips and legs. But with all this said, she shows us daily how she is a normal 3 three year old, with a 16 year old teenage girl attitude (LOL) ! She knows her colors and actually tries to say some and also does some animal noises. She is so smart and even though she may be a little different and high maintenance, I expect her to have a pretty normal life.
(posted September 2020)
I am Roger, a 60-year-old man who was born in 1960 with DiGeorge Syndrome and the 22q11.2 Deletion Syndrome but did not receive a diagnosis until I was 43 years old!
My journey to diagnosis was a long and painful experience. I had been diagnosed early on with Epilepsy (which I don’t have), idiopathic hypoparathyroidism, severe hypocalcemia, and rickets, all of an unknown cause. I did have seizures but found they were caused by severe hypocalcemia, not by epilepsy.
In February 2003, I had the good fortune of partnering with an Endocrinologist (who was my primary café physician), promised me that I would get a “REAL” diagnosis, It would just take some time my he said. After a couple of office visits and an incorrect diagnosis of “Rickets, my Endocrinologist, in April 2003 told me that I probably had “DiGeorge Syndrome.” I was 43 years old.
By the fall of 2003, I had an office consultation with a Geneticist at the University. My doctor didn’t think I had DiGeorge Syndrome because I didn’t have any known congenital heart defects which he said is the hallmark of “DiGeorge Syndrome.” He refused to test me and I didn’t see him again until February 2004. He had attended a medical conference and saw a poster that described my exact symptoms. He decided to test me for 22q11.2 Deletion Syndrome. In late March 2004, at an office visit, my Geneticist revealed the answer. I did have “DiGeorge Syndrome.” What a relief.
In the fall of 2004, I was invited to Children’s Hospital of Philadelphia to participate in a clinical research study and to rule out a Mosaicism (is a condition in which cells within the same person have a different genetic makeup). I was tested again and it was positive for a 22q11.2 Deletion. They analyzed 100 cells and all 100 cells were deleted. I had a very large deletion size of 3.5 mega bases I was told. I have over 37 genes missing including the DiGeorge Critical Region Gene.
Before my diagnosis, I had worked in the airline and hotel industry from 1983 to 2009. I worked full time in the hotel industry until I couldn’t do it anymore. My treatment consisted of Calcium Gluconate by infusion 3 times per week, 3-4 hours each treatment. Today, my treatment is the same but I have a new Endocrinologist as my beloved initial Endocrinologist and Primary Care Doctor is at the university as a Professor Of Medicine. However, in July 2019, I was diagnosed with Pancreatic Cancer.
Late fall 2008 was the breaking point for me, emotionally, mentally, and physically. I had no family support of any type. I was financially on my own. I was missing a lot of work because I was continuously at the infusion center. With my Endocrinologist and Geneticist support, I stopped working full time and filed for Disability Benefits. I was automatically approved since I met the Social Security Disability “Listing Of Impairment” of “DiGeorge Syndrome.”
I have had media coverage throughout this time on ABC News, The Denver Post (front page), 5280 Magazine, and a journal article published in The Journal of Allergy and Clinical Immunology.
My biggest life accomplishment was to purchase a single-family home with my own land and no HOA. I achieved the “American Dream” while on Disability, only in America, do dreams really come true. I finally have an affordable home in a great historic neighborhood where I can live out the rest of my life as a landowner and not a renter, living with DiGeorge Syndrome and I now know for certain what my “REAL” diagnosis is!
(posted August 2020)
Say hello to Ava, our August Calendar Spotlight. Her mom calls her strong, spunky, and kind kid who never lets obstacles get in her way.
Say hello to Ava, our August Calendar Spotlight. Her mom calls her strong, spunky, and kind kid who never lets obstacles get in her way.
Ava is a spunky 5-year-old. Born at the University of Minnesota Masonic Children’s Hospital she was diagnosed 22q a few days after birth. She was born with Tetralogy of Fallot, which led the doctors to test for 22q. She had open-heart surgery at 5 months old and at the end of June 2020, she had another open-heart surgery. She did great through the surgery and is doing wonderful now, in fact within days of surgery she was ready to get back to playing and running.
Childhood so far has been pretty “normal”, she’s had a few surgeries but it doesn’t keep her down. She’s a fun-loving kind girl who loves dance class and T-ball. Ava just finished 4-year-old preschool and absolutely loved it. She’s followed by early childhood special education and speech therapy and excels at both of them. When meeting new kids she starts shy but it doesn’t take long for her to jump right in and play. She loves seeing her friends and is really looking forward to kindergarten this fall. One challenge we faced with school was her poor immune system. She often had to miss school because of any illness that was going around.
As a mother, I would like to share some advice with other 22q children, don’t let your diagnosis define you. Having medical challenges only makes you stronger. You’re a true hero!
I would also like to share some advice with other parents raising children with 22q. I know it can seem so scary to have your child receive a diagnosis with so many unknowns of what the future will look like, take it one day at a time and remember your child is stronger than you think and most importantly needs you to love them no matter what.
We have a strong faith and we are blessed with a huge support system. Our families and friends are always there for us to help in any way they can. I am proud of Ava for never letting an obstacle get in her way. Whatever she puts her mind to, she finds a way to accomplish it! She’s a deep thinker and she likes to figure out how things work, she has an amazing memory too. I want to raise her to stay the strong, spunky, kind kid she is.
(posted August 2020)
Hi my name is Craig Wallace, I was born in Memphis, TN, the birthplace of rock-n-roll and Elvis. I am 30 years old, and married to Christine. I was diagnosed with 22q deletion syndrome at birth. My childhood was fun, with lots of memories including my grandparents and mother. I made many childhood friends, and still talk to them. My mother Diana was also born with 22q.
School was challenging and difficult at times. The most difficult part was having no patience for most things. My job search was difficult, due to communication challenges. The most difficult part of the job search for me were the people who would judge you without giving you the opportunity to succeed. I learned to cope with this, knowing people still cared for me.
Growing up I enjoyed playing basketball, learning how to play violin, and most important, spending time with my family and friends. Also love to spend time at the beach and traveling and playing with my pets.
My greatest accomplishments that I am most proud of were graduating high school, going to college, and getting married. Future goals I have… I plan to complete my college education in Computer Science at Nashville State. Even though the math courses are very difficult, I know I can do IT and most important having stable career to support my family.
My advice for others with 22q? It is most important to have FUN and be YOURSELF — and always be there for each other.
(posted July 2020)
Living with 22q Feature Interview
My name is Drew Yost and I am 20 years old and I am from St. Louis, Missouri. I’ll be 21 this December. My childhood was very fun and I was pretty outgoing when I was a kid. But it was pretty tough because I had a lot of medical issues. I had knee issues starting at the age of 6 and have had a total of 4 knee surgeries. I had health issues when I was young because of my 22q diagnosis. My immune system was not great, so I had to take medicine. I also have had pneumonia several times. I also had minor heart issues that did not require surgery and I took medicine for my kidneys. It took me longer to reach my developmental milestones and I had a lot of different therapies, but I eventually caught up.
I love sports and have since I was little. Football is my favorite sport and I knew I wanted to play it when I was young, but that didn’t end up working out because of my knee issues. Instead, when I got to high school for my freshmen year orientation, my Mom and Dad talked to my high school’s head football coach to see if I could do something with the team. I was offered to be the Varsity Football Manager. Doing that at a very young age and coming into high school barely knowing anyone, it was a life changing experience. The guys on my high school football team were great friends, looked after me and watched out for me. It was very humbling and motivational to me. Knowing that they took time out of their own lives to welcome me to a football family and to take me under their wings was a true blessing, especially since I was a freshman and they were upperclassmen. I learned a lot and have great bonds with them to this day.
When were you first diagnosed with 22q?
I was only 8 months old when I was diagnosed with 22q. My parents took me to the pediatrician because I was slow to roll over. They ran tests and didn’t find anything. The doctor sent us to a neurologist who ran more tests and they found I had 22q.
Tell us a little about school for you… any challenges posed by 22q? How did you overcome them?
School was some of the most fun and memorable times of my life even though I had many problems in school with my disability and had hard times in classes when I was younger, but my parents and teachers helped a lot. I was able find some help with medication to help me focus and to help with things in general as I got older.
What types of activities did you do growing up?
When I was growing up, I was active in a church youth group, including retreats. I also was played the drums. I started when I was 4. I played them for our 5th grade talent show and stopped when I was about 15. I loved sports and some of my greatest memories include playing whiffle ball with my 80+ year old great uncle at my grandma’s house. We loved running routes and playing football or 1v1’s and playing basketball with my dad, uncles and cousins. I grew up loving music and it’s always been an outlet for me. My uncle introduced me to rock and roll music at a pretty young age. Later I became interested in pop music and then I became a fan of hip hop/rap in my teen/high school years.
Tell us about your accomplishments…. Please share those you are MOST proud of… we would love to hear all about them!
Growing up, I overcame a lot of health challenges and was always going to doctors and therapy. It’s all I knew. I had to work really hard. School and homework were difficult for me, but I studied and worked really hard with my mom’s help and the support at my school. I was on the honor roll all during high school. I received recognition from my school district for Character Council and our local St. Louis news did a cover story on me that was also picked up by our then St. Louis Rams national football team. They gave me and my team tickets to attend a game and my coach surprised me during a school assembly to tell me. I also was the Top Scholarship winner from the 22q Family Foundation. I received the Riley Dempster scholarship in 2018. It was a very awesome honor.
Any advice you’d like to share to children growing up with 22q?
The advice I would share with children growing up with 22q is that anything you want to put your mind to, do it. Never give up on your dreams and chase them until you accomplish what you want. Hard work always pays off down the road. Always have a positive and motivational mindset. You will look back and be proud of what you have overcome.
I am a big football fan and I love the Seattle Seahawks. I love this quote by quarterback Russell Wilson, “To compete with the best you must be willing to do things that others are not willing to do and sacrifice things others are not willing to give up.”
Goals for the future?
My goal for the future is to graduate from my college program at the University of Iowa. I also would like to get a job I enjoy, get my license, buy my own car and have my own apartment.
Did you go to college? Tell us about that?
I currently attend the University of Iowa in Iowa City. I will be a junior in the UI Reach Program. It’s a well known program and one of the top awarded programs across the nation. It’s a program for students who have disabilities, but who want a full college experience. I’ve lived in the dorms the past two years and this year I will be living in an apartment on campus. My college experience has been so fun and has gone by so fast. It has been very memorable. I’ve made so many amazing friends in and out of the program. I also participate in a campus ministry organization that the university has on campus called the Salt Company. It’s an amazing campus ministry with over 400 college students. The Salt Company is not just on the University of Iowa’s campus and not just in Iowa City. There are several Salt Companies on multiple different college and university campuses across the world.
Anything else you’d like to share?
My parents and family have been very supportive and we have always been open with each other about 22q and the challenges it comes with, but we have not let it stop us. My mom helps run a group in St. Louis for 22q awareness. We went to the capitol of Missouri to advocate for newborn screening for 22q and had an awareness day recognized. Sometimes it is hard to process or handle when there are challenges or things are not easy, but we are thankful to God for where we are today and how far I’ve come and the goals I have set for myself.
Elijah Wayne Corral
(posted June 2020)
Elijah Wayne Corral was born in Stanislaus County, California on October 3, 2015, at 01:03 pm. The much-anticipated arrival of our first baby boy was finally here! After a roller coaster of emotions-and the toughest pregnancy I’d experienced out of my other children, we were filled with nothing but love and excitement of his arrival. Ten little fingers and ten little toes. The thing is, what we didn’t know at the time was that he did have a little something extra, and a little something missing. Elijah not only has a 22q duplication, but also a rarer syndrome of 22q distal deletion.
From very early on I could tell that something was not quite right. Call it “mother’s intuition” or over attentiveness to this new beautiful baby boy, but Eli showed very early signs of concern even as an infant. At a day old while still in the hospital, Elijah randomly stopped breathing and started turning blue. Luckily the Labor and Delivery Nurse was holding him when this happened and was quickly able to revive him. This was not a one-time occurrence, this continued for the first three months of his life. Simultaneously he also experienced severe reflux anytime he fed. Breastfeeding was becoming an issue because he would immediately vomit after every feeding. We were told to supplement with formula, only to find out that this made him even sicker. Unable to keep down breast milk or formula he quickly fell into a “failure to thrive” category. On top of the feeding issues, Elijah typically didn’t sleep for no more than 30min at a time- even at night. After consulting his Primary Care Physician numerous times about this concern, I was told, “some babies just don’t need that much sleep.”
It was actually at an appointment for a lingering cough that my concerns were finally validated, despite bringing them up at every other appointment he’d ever had. What had started as a routine doctor’s visit consisting of height and weight and the typical “how is he doing” questioning suddenly became a very different, and much more scary, appointment when I mentioned that he still wasn’t meeting certain milestones. At 18 months Eli weighed 27lbs and was 33in long. Although he checked all the boxes for standard height and weight he could not roll over, tolerate being on his back, crawl, stand up unassisted, or cruise around furniture holding onto objects for balance. The absence of these early developmental milestones was just the beginning of what was to come. From that appointment on he has seen more specialists than I ever thought I’d see in a lifetime. We have seen an Allergist, Cardiologist, Audiologist, Pediatric Optometrist, Dermatologist, Neurologist, Geneticist, Pulmonologist, Psychologist, and multiple specialists in Developmental Delays and Autism. After weeks of appointments all over the state, a 6 hour MRI of his brain and spine, test after test came back normal, but it wasn’t until his genetic marker test came back that we learned that he had 22q11.2 Distal Deletion Syndrome and 22q11.2 Duplication, better known under the umbrella of 22q.
What was 22q? What did that mean for him? What did that mean for our family? Was this something he’d “outgrow”? Was this treatable? Will this get worse? Will this get better? What do they mean, by this could have severe physical disabilities too? What about future milestones? What about CURRENT milestones?
Will he be able to live a “normal” life?
Be “mainstreamed” in school? The questions that arose from his diagnosis were endless. We were told worst-case scenarios, we were told that although he didn’t present any physical disabilities at the moment (heart defects, GI issues, schizophrenia, etc) that he could in the future, we were told that our precious little boy would be “intellectually disabled” and that we needed to prepare ourselves for the challenges that lie ahead. The worst part of all of this was the unknown. The geneticist told us he was the very first case she had ever seen or heard of with BOTH the duplication and deletion. We were told our sweet boy may never walk, talk, or be a functioning member of society.
Immediately after this appointment, I reached out to a local non-profit organization that specialized in early interventions for infants and toddlers.
This included home care services such as speech, physical therapy, developmental, and occupational therapy.
Eli had been thriving in this program from 18 months to three years of age.
After Eli turned 3 and a half we sought an Autism diagnosis through the Mind Institute at the University of California, Davis. With this diagnosis, we decided to transition him to an Applied Behavioral Analysis (ABA) Center specializing in Autism while he simultaneously attended a special needs Pre-School through the school district.
Our ultimate goal is to eventually mainstream him into a regular school. This supplemental diagnosis has been a blessing and a curse all at the same time. While 22q is the underlying diagnosis and Autism is the secondary, the Autism diagnosis is now the first thing people, schools, resources, and physicians want to acknowledge and address. While it has opened up so many new resources for him, it has also “minimized” his primary diagnosis of 22q. It was only after the Autism diagnosis that we were able to address his lack of sleep. He now takes sleep medication every night to help him not only fall asleep but stay asleep.
Once we established a sleep routine, we immediately saw an improvement in his developmental and cognitive abilities.
One of the most frustrating aspects for him in his social life is not being able to communicate and interact with his peers. One of Eli’s medical conditions that he’s always had, and will probably always have, is low muscle tone. This affects his everyday life, especially when it comes to playing on playgrounds, raised platforms, rock walls, ladders, etc; he lacks the muscle strength and coordination to play on these structures. Other medical conditions that Eli suffers from are: being immunocompromised, slow recovery from something as simple as a common cold or virus, mild hearing loss, Dermatographia, or “Skin Writing,” anxiety, and a sensory processing disorder. Our biggest struggle out of all of these is the combination of the sensory disorder, which leads to his anxiety. The anxiety can vary in severity depending on the day, situation, or mood. This affects his everyday life including- nail clipping, hair cuts, teeth brushing, eating textured foods, and sensitivity to hot and cold (with both eating foods and taking baths). Loud noises are also a trigger for his anxiety, whether it’s a motorcycle that drives by, fireworks, or a dog barking, this can quickly escalate to a full-blown meltdown.
He is currently enrolled in occupational therapy at school, which focuses on coping skills to relieve anxiety. Some of the things that he’s learned are breathing techniques to help calm down, and touch therapy to familiarize himself with different textures and temperatures. At home, he uses a weighted blanket, noise-canceling headphones, and has a designated area that he considers a “safe space” that he can go to when feeling overwhelmed or overstimulated.
Elijah was considered non-verbal until the age of 4. He has been enrolled in speech therapy since 18 months of age where he learned basic communication skills such as “Baby Sign Language.” This helped give him a voice to express his needs and wants when he was otherwise incapable of doing so. As the years went on, speech therapy allowed him to progress in being able to put together one to two-word phrases. Hearing him say “Hi Mommy” for the first time was a moment I will remember for the rest of my life. From where we started to where we are now is something that no one ever expected.
We no longer have to see the long list of doctors as frequently; at this point, we see his Geneticist and Developmental Pediatrician on an annual basis to make sure no further testing or services are needed.
Elijah has always been a very happy and easy-going little boy. He is the most loving, caring, affectionate, and empathetic child I have. He never ceases to make me laugh and his determination and strong will are admirable.
Elijah is a typical boy, he loves all kinds of animals and bugs. He has an adventurist heart, he loves trains, cars, being outside-specifically the beach, getting dirty, and learning new things. He is great with fine motor skills, such as building blocks, racing cars around a track, or putting together train sets and recently surprised all of us when one day he picked up a book and started reading aloud.
Eli is thriving educationally, developmentally, and behaviorally and has surpassed all expectations that his physicians, teachers, and therapists had for him. He’s meeting all educational goals set by his schools and has started putting together multiple word sentences. He is so eager to learn new things that nothing can impede his determination.
Reflecting on how far he’s come since that Geneticist appointment where we were told that our little boy was destined to be “intellectually disabled” and not to set high expectations for his quality of life, to now- it is anything short of miraculous. He has proven the possibilities are limitless and he is determined to learn and develop and overcome; although it may be on his own time and a bit slower than his peers, there is nothing that will stop him.
My advice that I would give to any parent who has recently gotten a 22q diagnosis is:
- Always listen to your mothers (or fathers) intuition.
- If you feel like something’s wrong, it probably is.
- Take time to process the diagnosis and to grieve it, but after that, take the time to embrace it.
- Do your research! There isn’t a lot of credible information on this condition and often you will find yourself being the educator, the therapist, and the counselor.
- Don’t sit idle and expect someone to give you a pamphlet or book on this, be proactive, be their voice, be their advocate.
- This is probably going to be one of the hardest things you will ever be faced within your life. It’s going to be hard, and tiresome, and frustrating, and at times you will feel guilty and hopeless, but it will all be worth it.
- This will be a fight worth taking, and in the end, you will be fulfilled, and proud, and grateful.
- You will never underestimate the power of a word, or a step, or a milestone. You will continue to be amazed and awestruck every day.
- Physicians, teachers, and therapists may try and give you expectations of what is to come or what to expect, but from my experience, I’ve learned that you can’t set limits to what your child can do; not in practice and not in your mind.
- Let your child show you what they are capable of, they will.
- Just because their way may be different doesn’t make it wrong.
- Lastly, make sure to take care of you. Use your village to lean on. You must have an outlet, whether it’s a support group, blogs, pilates classes, a night out with the girls, 15min bubble bath, or a mani-pedi with your bestie, make sure you take that time and decompress.
Sometimes the things we can’t change end up changing us- Unknown
(posted June 2020)
Amani Salahudeen has some sage advice for children growing up with 22q, “Don’t listen to those who don’t support you.” Amani once had a teacher tell her she didn’t think Amani would make it through high school! In spite of these hurtful words that were so devastating to someone so young, Amani did graduate high school, earned her BA in college, and is currently working in her field of study in journalism.
Amani was born in Lawrence, Kansas, and grew up in Lawrenceville, NJ. She was diagnosed with 22q around 2 years of age. She looks back on her childhood with many special memories, and the outdoors was her favorite playground. Amani loved horseback riding, swimming and archery, and was very involved in her local Girl Scout Troup. During her elementary school years, Amani earned the Girl Scouts Bronze Award, the highest honor a Girl Scout Junior can achieve through leadership and making a difference in the community!
Amani attended a small religious school growing up. As a student, she loved writing and reading and excelled in English and History. But, math was a constant struggle for her, and she received special accommodations due to her disability. She had to deal with a few teachers who didn’t understand kids with disabilities; along with cruel classmates since she was the only one in her class who needed accommodations. “Dealing with how cruel kids can be about that kind of thing was tough, but I was tougher.” Thankfully, Amani had amazing math tutors in and outside of school. She is especially grateful to her NUI High School teacher, Saffiya Turan. “She was an amazing mentor and head of the math department when I was in high school.”
After high school, Amani received her Associates Degree from Middlesex County College in New Jersey where she was part of Project Connections, a comprehensive academic and counseling support service for students with specific learning disabilities. Through Project Connections, Amani attended classes and made friends with other students, who also received accommodations. What a difference this made in Amani’s life! Knowing, like many others, she had the ability to succeed, but just needed a little help!
Amani went on to graduate with a 3.0 in B.A. in Journalism & Professional Writing at The College of New (TCNJ) She didn’t know too many people at TCNJ with a learning disability and prefers to only tell close friends. “I think having the freedom to choose who you tell until you are comfortable sharing with others is super important.” She was actively involved in clubs at TCNJ and overall, thoroughly enjoyed her time there. “It made me realize that for the first time I didn’t hate going to school because I was taking classes I actually genuinely loved.” While attending TCNJ, continued to pursue her dreams to work in journalism. She wrote for TCNJ’s school newspaper and interviewed Lara Logan, a South African television and radio journalist and war correspondent. She also managed the social media accounts for TCNJ’s, Her Campus, during her senior year. She even had a few “ once in a life-time experiences” to see the likes of Actor/Comedian, Hasan Minhaj, Journalist/Activist, Noor Tagouri, AJR, and Actor, Ramy Youssef.
Amani never let her disability hold her back, despite being told at an early age by adults who were supposed to be her mentor, she probably would not succeed! She once gave a talk at Children’s Hospital of Philadelphia for a 22q conference when the person who was supposed to go didn’t want to get up on stage. She landed internships with two digital media companies: The Tempest (thetempest.co) and Muslim Girl (muslimgirl.com). She interviewed New York Times Best-Selling author, S.K. Ali and did a reporting piece on Mental Health in Islam featuring a Cornell College Chaplain for Muslim Girl.
Her accomplishments thus far are a testament to her strength and persistence. Amani is grateful to all the wonderful mentors she had throughout her childhood. Through her love and passion for reading and writing, Amani has found a way to let her light shine. She is currently working part-time for The Tempest and Muslim Girl, but is looking for full-time opportunities at digital media companies.
Meet the Crum Family
(posted June 2020)
My name is Maureen Crum and I grew up in Hershey, PA. As a child, my parents knew I had learning delays but the diagnoses of 22q didn’t come until the age of 32 when my son Connor was born.
School was very hard for me, I was in learning support and really struggled with Math & Science, repetition and exposure were how I thrived and hands-on experiences was how I did my lest learning. I am very fortunate that my parents exposed me to a lot of things, we took family vacations and traveled abroad. My mother was a ski instructor and I learned to ski at the young age of 3! I was on the country club swim team and took tennis and piano lessons.
After high school, I attempted community college but the courses were too hard for me. I knew I learned best hands-on and eventually found a totally hands-on French culinary school in Huston TX! I was so excited to attend Alain and Marie Lenotre Culinary Institute and was able to live with my childhood friend and her family during my schooling. I graduated from culinary school in 2001 and then moved back home to PA. Since graduating I have had several cooking jobs, I am now married and have a child of my own, Connor.
I was 32 years old when I gave birth to our son Connor and received my 22q diagnosis. It wasn’t until this diagnosis that all the missing pieces of my puzzle started coming together. Dr. Zackai & Dr. Donna McDonald Mcginn diagnosed Connor with 22q as a newborn at Children’s Hospital of Philadelphia NICU and then I was diagnosed with the FISH test. Without having Connor I may never have known I had 22q.
Connor is almost 10, in 5th grade and a great kid. We struggle with behavior issues and he is in emotional support classes but is doing great and thrives in school. He has a super team and we couldn’t ask for a better teacher, he was even given the “R.O.A.R. , Ready to Learn” award, because during digital learning he did such a wonderful job, always engaging with learning opportunities, and showing up to Zoom with his teachers and peers consistently! Not only are we thankful for his school but also we are so thankful for his awesome team of doctors at CHOP.
Connor adds so much to our lives and we are so proud of him. As for me, “I want to raise Connor the best I can!
(posted June 2020)
When Finley was born, I knew something was off. Me being a NICU nurse, I know babies. He was born at 36 weeks and was so little at only 4 lbs 5 oz. that my husband was terrified he was going to break him. At 2 months old, Finley had inguinal hernia surgery and still has an umbilical and abdominal hernia that may need repair in the future.
As he started to grow, Finley wasn’t hitting his developmental milestones. He didn’t even try to roll over until he was about 7 or 8 months. But what struck me as really different is that Finley never laughed. I saw all of these videos of other people’s little babies with this adorable belly laugh. That was when I knew I had to contact early intervention. The therapist who did Finley’s evaluation told me his muscles were too weak to laugh. Finley started physical and developmental therapy and outpatient physical therapy for torticollis. Since he spent a lot of time on his back and hated tummy time, Finley developed a flat head and needed a helmet.
We were still trying to get a diagnosis for our son, so we began looking into genetics and genetic testing. We were having a difficult time finding answers to what Finley may have. No one was able to give us a name or diagnosis. A month before his genetics appointment, we saw an ENT who looked at Finley for 10 seconds and said; “I think he has 22q”. Of course I started googling and the fear and anxiety set in. It took 7 months to get a genetics appointment and another 4 months to get a blood test and the results. It wasn’t until Finley was just over 2 years old when we got a diagnosis. He started speech therapy soon after diagnosis.
We are very lucky that Fin is on the lower end of the spectrum. So far, he only has an aberrant right subclavian artery, an abnormality of his cervical spine, gross motor weakness and developmental delay. Fin’s endocrinologist said he was going to be small as well.
With everything Finley has been through, he is the happiest kid I know. He has a huge personality and loves people. When I think about all of the challenges Finley will have in life, I just think about the fact that all kids have challenges. Different kids have different challenges. We can and will get through anything that life throws at us.
(posted June 2020)
Living with 22q Feature Interview
1. Tell us a little about yourself… where you were born? Your current age? What your childhood was like?
My name is Anke Cant and I was born in Wilrijk, Antwerp Belgium. I am 38 years old. My childhood was good but also difficult. I had a good home with my parents, but I had problems making friends like other kids. I was different in normal school.
2. When were you first diagnosed with 22q?
I was diagnosed in 2011 at the age of 29 through a blood test. My brother’s family was undergoing genetic testing to find out why his wife had a miscarriage. I underwent the genetic testing to help my brother and his wife.
3. Tell us a little about school for you… any challenges posed by 22q? How did you overcome them?
I didn’t know anything about 22q when I was in school. I had yet to be diagnosed. I only knew I was different than the other kids, but I didn’t know why.
4. What types of activities did you do growing up?
While I was growing up, I participated in taekwondo.
5. Tell us about your accomplishments…. Please share those you are MOST proud of… we would love to hear all about them!
I am proud of several accomplishments.
I graduated from normal (mainstream) school with a diploma.
I have a red black belt in taekwondo. Even though I don’t participate in the sport anymore, I’m still proud of my accomplishments.
I had a regular job for a few years doing computer work. I put commercial retail shop brochures online.
I live alone and do most of the things by myself.
I made a website in html, which I am very proud of. I love computer stuff!
6. Any advice you’d like to share to children growing up with 22q?
The advice I would give to people with 22q is just be yourself.
7. Goals for the future
My goals for the future are to keep doing the things I’m doing now. I live alone and am independent as much as possible. That’s a great achievement for someone with 22q11.
8. Did you go to college? Tell us about that?
9. Anything else you’d like to share?
I have a website, but it is in my mother language. The goal for that site was to practice html.
Paxton Jade Campbell
(posted June 2020)
Paxton Jade Campbell was born in Fairbury, NE on April 12, 2014. She looked just like her brother with a fuzzy head of brown hair, she was absolutely perfect! We were all set to go home when the doctor came in and said that he wanted to talk to a pediatric cardiologist in Lincoln before we went home because her oxygen levels were a little low. After speaking with the cardiologist the decision was made to go to Lincoln to do an echocardiogram on her heart to see if something was wrong. We loaded up into the ambulance and away we went. After arriving in Lincoln, they did the echo and found out that there was something wrong. Paxton had pulmonary atresia with MAPCAS. Dr. Martin said that she would need surgery to fix the issue and again Paxton was loaded into an ambulance and to Children’s Hospital in Omaha we went. We were at Children’s for 10 days. There we learned that there was more going on than just a heart issue. A doctor came in and said your daughter has a genetic disorder called 22q11.2 deletion syndrome. I don’t really remember what she said after that because I was so overwhelmed. First a heart surgery and now this. It was a lot.
I learned that 22q comes with a lot of different possible symptoms and that we were going to be seeing a lot of doctors. We saw different specialists throughout the week and she had so many tests and blood draws. She was such a trooper though! The good news was that the doctors thought her heart condition was not urgent and that we could let her grow and get a little bigger before doing her first surgery!
We continued to go to specialist appointments and cardiology appointments until her first surgery was scheduled at 3 months of age. Scariest day of my life. Seeing your baby wheeled off into an operating room for open-heart surgery is no fun. I sat by the phone eagerly waiting for updates from the surgeon. The call finally came that everything went great and that she was going to recovery! From that point forward I knew she was going to be a fighter!
Paxton is now a healthy, happy 6-year-old with an unreal amount of personality!! She has had 2 open heart surgeries so far and will need one more final one within the next couple of years. She has graduated from all of her specialists except her cardiologist. She even graduated out of speech classes last year. She will start kindergarten at Skyline Elementary in Elkhorn, NE this coming fall. Paxton makes friends easily, has an 8-year-old brother that she loves to annoy and is definitely the life of the party! She loves to dance and has twin baby dolls named Hanna and Eleanor that she cares for daily. We even have full-blown birthday parties for them. She is the best momma to her babies.
A Q & A with Kaitlyn Redding – on Living with 22q!
(Posted May 6, 2020)
Interview Question: Tell us a little about yourself… where you were born?
Kaitlyn: I was born in Hopewell, Virginia. I am 25 years old.
My childhood was ok. I was diagnosed with 22q when I was in Kindergartner in School.
Interview Question: Tell us a little about school for you… any challenges posed by 22q? How did you overcome them?
Kaitlyn: Yes, math was hard for me; school was hard for me overall, but I made it through and I overcame the challenges. I used to be bullied in high school; people would be mean to me in high school — but I know that happens alot to others as well. I felt like nobody wanted to be my friend in school… I had couple friends but not alot of friends. I graduated in 2013 from Clover Hill High School.
It been hard over the past year. I have depression, and anxiety, but working through it.
Interview Question: What types of activities did you do growing up?
Kaitlyn: I played soccer. I also participated in Girl Scouts, and played with my friends outside – on our tree swing, as well as went swimming and horseback riding.
Interview Question: Tell us about your accomplishments….
Kaitlyn: I am most proud of how far I’ve made it — through all the school years and beyond now. And, I don’t let people get me down anymore. I’ve been through a lot, and I’m proud of myself for persevering through!
Interview Question: Any advice you’d like to share to children growing up with 22q?
Kaitlyn: I would like to say “stay positive!” Tomorrow is a new day — keep on shining! I want to inspire other people!
Interview Question: Goals for the future?
Kaitlyn: My goals now — I want to lose weight, be happy, get a job, and make more friends!
Interview: Anything else you’d like to share?
Kaitlyn: Yes! I have Instagram and YouTube
Check them out and support my page!
YouTube: Livingwith22q x
(Posted April 20, 2020)
Matthew Burry has his eye on the prize – getting his driver’s license and buying a car! All our bets are on Matthew as his self-determination has gotten him through many challenges growing up with 22q. Twenty-year-old Matthew lives in Louisville, Kentucky, and was diagnosed with 22q at birth. When he was born, he was not able to swallow and had to have surgery right away. He was placed on a feeding tube after the surgery. Matthew was seen by Dr. Joseph H. Hersh, a clinical geneticist in Louisville, Kentucky, who diagnosed Matthew with VCFS (Velocardio Facial Syndrome.) His mother, Susan, was eventually tested and found to be the carrier of it.
During his toddler years, Matthew saw many therapists through First Steps, an early intervention program in Kentucky that provides services to children with developmental disabilities from birth to age 3, and their families.
Growing up, Matthew loved all the typical outside boy activities like riding bikes, hiking, climbing trees, playing sports, metal detecting, and magnet fishing. He attended several schools, but was challenged with speech issues and fitting in. Eventually, his Mom found just the right school, Pitt Academy in Louisville, to help him make friends and graduate.
Today, Matthew is still showing off his athletic talents through his involvement with Special Olympics of Kentucky and an all-inclusive rock climbing group! He loves his dogs, and you can often find Matthew on the hiking trails! Some of his biggest accomplishments include working at his UPS job for the last two years, and teaching him-self photography, and obtaining his wrestling photography license.
Matthew does still struggle with some anxiety and speech, but with the help of his family, he is working through it. Matthew’s Mom, Susan, describes Matthew as a quiet guy who is, “a hard worker and very kind and loving in his own way.” Matthew’s advice to share with other children growing up with 22q is to, “Take it one day at a time, and try not to let the stress of 22q get to you.”
We can’t wait to continue to follow Matthew’s 22q journey! We’ll see you on the road in Louisville, Matthew!
(Posted April 16, 2020)
Thank you to Christina Rea for allowing us to share your story with our 22q community! Christina is an adult who was diagnosed with 22q at 5 years old. Check out Christina’s story on her YouTube channel – “Living with 22q”. Way to go Christina! Keep pushing through!
(Posted April 6, 2020)
Meet Apryl Fox, an aspiring Best-Selling Author who has already written 5 books! She is 37 years old, and after moving a lot growing up, she now calls Michigan her home. At birth, her family knew something wasn’t right, but Apryl was not diagnosed 22q until she was 5 years old. She had open-heart surgery at age 1, and several other smaller surgeries later in life. She is fairly healthy now, but still deals with arrhythmia and ear problems.
With an older brother and a younger sister, Apryl refers to herself as, “stuck in the middle”, and is thankful for her family since, due to family job situations, she moved around a lot as a child and didn’t have many friends. She always did well in school, except for math, and never required special classes. Apryl loves to read and write, and has made writing her passion in life.
Apryl chooses to live in a group home, it helps make her life easier, and gives her a support system. Since she does not have a car and doesn’t drive, Michigan winters can make walking to the grocery store difficult and having this support system is crucial to her.
When asked for her advice to others growing up with 22q she says, “Don’t let anyone tell you, YOU can’t do something. Keep trying and keep your head up and stand tall.” She is doing this in her life by doing what she loves best, reading and writing! Apryl loves to write, and while the average typing speed is 40 wpm, Apryl can type a whopping 80 wpm, which helps her to write a lot! Her goal is to be a best-selling author and to date, Apryl has written 5 books! Her latest book was just published and can be found by following this link.
Apryl loves reading and writing so much that she is inviting others to be her pen pal; feel free to friend her on Facebook.
Brie’s Story, as told by Mom, Kaitlin Harrison
(Posted March 31, 2020)
My entire pregnancy I had a feeling that something was different. Leading up to the 20-week scan I kept saying to my husband “I’m scared. I feel like something is wrong!” The sonogram technician spent 2 hours looking at our baby when finally a doctor came in and delivered the news; “There’s something wrong with your baby girl’s heart.” We were terrified. We had no idea what this meant for our daughter, our baby girl, who we had so many hopes and dreams for. We already had a beautiful, sweet son and we were so excited to have the “perfect” family of four we had always dreamed of. This news was life changing. Two days later, we had an emergency appointment with a fetal cardiologist where it was confirmed that our daughter had a complex and rare heart defect, truncus arteriosus. We were also informed that this type of heart defect is common with children diagnosed with 22q. Not knowing what in the world those diagnoses meant, we still decided right then and there, that we would do everything possible to get our baby girl the best care in the country. A couple months later, we uprooted our life in Florida and moved back home to our families in Maryland. We wanted our child to have all her care and treatment at The Children’s Hospital of Philadelphia (CHOP), and we felt a move was necessary. It was a decision we will never regret.
Brie was born on July 27th, 2017 at 37 weeks. She weighed 5 pounds 8 oz. Brie looked perfect. It was hard to believe that without surgery, our little girl wouldn’t make it more than a few weeks. We would later find out that Brie also has 22q11.2 deletion syndrome. 22q can have over 180 symptoms, and we have no idea what will end up affecting Brie, but we do know it’s why Brie has her heart defect. Brie underwent her first open heart surgery at 4 days old, has had three heart catheterizations (one in which stents were put into her pulmonary arteries), a second open heart surgery at 8 months old, and we recently discovered Brie had a stroke. Her CHD has no cure and will require close monitoring with many, many doctor appointments and therapies. We know she will need more open-heart surgeries and procedures as she grows.
As Brie has grown older, new challenges have come her way. Her biggest issues currently are her speech and her hemiparesis caused by her stroke. Brie, at 2.5 years old, only has a handful of words she uses regularly; however, she understands everything. She’s very intelligent and uses a mix of verbal words, sounds, and sign language to communicate with us. Brie currently takes speech therapy through a county program, but we will be adding private speech therapy soon. We also have Brie in weekly PT and OT, because she has weakness and stiffness on the entire right side of her body, causing her to trip and fall. We have seen a major improvement since we ramped up the amount of PT she receives!
Brie has had so many obstacles in her short life and she’s overcome them all with such grace and perseverance. Brie was born with incredible strength and determination. Watching her grow and come so far is such a blessing for us. Since day one, she has always been full of energy and today is a fun, loving, rambunctious 2 year old. Brie is a total goofball and loves making people laugh. She has a presence about her that lights up the room; she waves to strangers and will always return a smile. Sometimes she will stare people down until they notice her, it’s hilarious!
Brie loves to dance, read books, go down steep slides (she is fearless!) and tries to do everything her older brother does. This Fall, Brie will attend regular preschool – the same school her brother attends. We are confident she will do well and we know she is super excited to go! She loves being around other kids!
Through her entire life, Brie has defied the odds. We were told to expect the worst – that Brie will never be able to keep up with other kids. She’s proved everyone wrong! Brie is determined and has an unshakable happiness and zest for life. Even with all she’s been through, she still goes to every doctor’s appointment, therapy session, and medical test with a huge smile on her face. Brie’s an inspiration to not only our family but to thousands of others that follow her journey. We know Brie has big plans of her own life and we know her stubborn self will make it happen. She’s given life a whole new meaning for us. We cherish the moments, celebrate each victory and have come to realize that we still have that “perfect” family of four we had always dreamed of.
Living Positively with 22q
(Updated April 2020)
Moving from an adolescent with 22q to an adult with 22q can be intimidating, but if you just put one foot in front of the other and proceed forward, you will find yourself living as an adult on your own, with a job, hobbies and friends! This is how Adam Aelick has approached his young adult life.
When Adam was born in Sudbury Ontario Canada in 1998, his doctors suspected he had 22q at birth and after a week, the diagnosis was confirmed. He spent about 3 weeks in the hospital where more tests were run and his heart and oxygen were closely monitored. He had his first open heart surgery at 18 months of age. After several years in and out of the hospital with pneumonia, he had his second heart surgery at age 5.
Like many children with 22q, he struggled with school and didn’t have many friends but always knew he could count on his family. “I didn’t have one specific friend growing up, but I was always able to rely on my sister, my mom, and my grandparents.” High school is usually more difficult for those with learning differences and so proved to be for Adam as well, but he is proud to say, “I gradually intergraded into mainstream classes in high school.” “It took an extra year for me to graduate but I did receive my high school diploma with one of the highest grades in woodshop class in the school!”
For most students even without differences, it takes someone behind you guiding and maybe even giving you a push along the way. That someone for Adam was his mom. When he was about 15 his mother “forced” him into a non-profit music program, which he eventually fell in love with. “I was in it for years then I left because I turned 18 and the program is for 11 to 18 years old.” At age 20 Adam still loves to play his guitar and plays both acoustic and electric guitar, learning new music all the time.
Today Adam does require medication for depression, anxiety and a leaky valve, which he hopes to have fixed in the near future. However, he is living his own life working, making friends, learning archery and he is on a Special Olympics 10 pin bowling team! “My mom is always positive with me no matter what,” so with inspiration from his mom and a book by Quinn Bradlee, Adam started a facebook positivity page where he posts positive quotes and pictures almost every day. Follow his page and be inspired everyday!
Elijah’s 22q Story
(Posted March 31, 2020)
The day Elijah was born I just had this feeling that something wasn’t right. I told the Pediatrician on the Delivery unit that Elijah’s breathing sounded funky and I was reassured that it was normal and all babies do it until they turn 3 months old. She even wrote on my discharge paperwork that I was worried and she reassured me that it was just first time mom anxiety. By the time Elijah was 6 months old he was hospitalized 6 times with bronchiolitis and I was told by the attending on the unit that he didn’t warrant a Pulmonary consult. I was not in acceptance of that answer and went down to their outpatient unit where I was told the next available appointment wouldn’t be for 2 months. I then called another local hospital and was told the same thing. I still was not giving up on this, my mom senses just kept tingling that something wasn’t right. I called his pediatrician and we talked about what was going on. Within 24hrs I received a phone call back from him and an appointment to see the Department Head of Pulmonary in an out of state hospital at the end of the week. I drove Elijah to this appointment and the following week we received a diagnosis, Elijah was diagnosed with mild to moderate tracheomalcia.
We then started to see an Orthopedic at the out of state hospital for issues of Torticollis and hypo plastic C4 vertebrae. As time went on Elijah wouldn’t use his left side of his body and the Orthopedic sent us to Neurology for a consult. Neurology ordered an MRI of the brain and when the Orthopedic found out he added on an MRI of the entire spine. The Brain MRI came back mostly normal but they discovered that he has a tethered cord. The orthopedic then suggested that we see Genetics due to the recurring infections, and abnormalities of the spine.
Fast forward to finally getting into genetics, I remember this day so clearly. We saw Dr. Gripp at AI DuPont and Dr. Gripp walked into the room looked at Elijah for like 2 minutes and was like I am pretty sure Elijah has what’s called 22q11.2 deletion but I need to finish my evaluation and confirm with some blood work. I was so baffled. How can this Doctor just walk in the room look at my child and know what is wrong with him. I started to doubt and think that it was just like all the other doctors throwing out things it could be. But then the call came a month later. I remember it like no other. May 2 nd, 2016 I received the call that I was dreading. The Genetic office called and confirmed that Elijah did indeed have what’s called 22q11.2 deletion. My mind began to go all over, I had no idea what this meant, I didn’t do much research during the waiting period as I didn’t want to freak out over something Elijah may not even have. I was petrified of not knowing what the future meant for Elijah. I tried to wrap my head around it but it just felt like so much at the time. Dr. Gripp had told me about the 22q and You Center at CHOP and I called and made an intake appointment with them.
The first year of his diagnosis seems like such a blur, between the intake and the referrals to all the other specialists. It became overwhelming. I felt like I was just going through the motions. Elijah was in and out of the hospital, in and out of doctor appointments, referrals to this, referrals to that, therapies for speech, physical therapy, hearing therapy, and occupational therapy.
Fast Forward to now, Elijah is thriving in a public school with pull out supports. His school has even helped put on a 22q awareness day in January 2020. He talks and boy does he not shut up. You may not be able to understand him all the time but he definitely has a lot to say. I never realized it in the moment but looking back I realized Elijah was such a quiet baby, he barely cried, he never cooed, I just thought he wasn’t very talkative. There were days I prayed he would talk, make a sound, something, now there are days I pray he shuts up lol.
Through this journey, I have learned to take it day by day. Stop worrying about what the future will hold for him (if that’s possible) and learn to live in the moment. I learned that I just need to give Elijah the best support he needs now, anything else we can address when the time comes. Elijah is such a sweet loving child and brightens up any room he is in. Through all the diagnosis, visits, medications, therapies, He doesn’t let 22q stop him in any way and goes after what he wants. Elijah currently participates in karate, swimming, soccer, baseball, and wants to start basketball next year.
To all those parents hearing the diagnosis for the first time: Breathe. It will be okay. Don’t compare your child to another, try to focus on the moment and not worry so much about the future. Just live. Give support and FIGHT for your child. You as the parent KNOW what’s best for you child.
Meet Grace – March Faces of 22q Calendar
(Posted March 16, 2020)
Taking on the World with a Smile!
Grace who turned 10 in February was born in Indiana and diagnosed with 22q at birth. We knew she had a heart defect, but received the full diagnosis when she was born. As much as we tried to learn about 22q, I don’t think we fully understood the road ahead. With all of the possible challenges, there was no direct path of what to fully expect. With a long list of issues that she may or may not face, we were constantly learning and asking questions and have learned so many things that we never knew existed let alone experienced. Grace has been through 2 open heart surgeries, one with complications that kept her in ICU for 2 months, a heart cath, pharyngeal flap repair surgery, multiple sets of ear tubes, sleep studies, regular therapies since she was 6 months old. She has speech and developmental delays, compromised immune system, asthma and low muscle tone. All of these things and this girl wakes up every day ready to take on the world with a smile on her face. She is in the 4th grade and works very hard. As she is progressing in school but the work becomes more challenging, especially the bigger concept areas, she still gives it her all. We try to break things down and use a lot of repetition. She works with a tutor to help reinforce what she is learning at school. This year she participated in Spell Bowl and is excited to do it again next year. We are so lucky to have a very supportive team at school.
Grace has had a very big year full of new accomplishments. She is taking ballet and tap as well as piano lessons. She performed at a class talent show and played, “All I want for Christmas is you.” We are so proud of all of the things she is trying, she does not let her challenges get in the way. We have learned not to underestimate Grace and not be afraid to challenge her since she has proved she is not going to let 22q hold her back.
My advice to other parents – go with your gut feeling. When you know something isn’t right, push for an answer or another opinion. When she was a baby, I think we were so scared to question anything but, as we have become more experienced and educated, we have become better advocates for Grace, she has truly taught us patience and priorities. We celebrate the accomplishments that might not be a big deal to others – but for us they are huge!
Her list of goals and things she wants to do is huge – like any other little girl, she wants to go to Disney World, but also Paris and Italy. She wants to go to college. When we talk about what she wants to be when she grows up, the list changes daily: an author and a cartoonist, a veterinarian, have her own show on Food Network like Guy Fieri, a meteorologist and who know what that dream will be tomorrow.
She is the sweetest and friendliest young lady who adores her big brother and her dog. We never know what each day will bring, but we do know that we were blessed with a very special little girl.
Taking on the World with a Smile!
(Update March 2020)
So proud of my 22q, Isabel Skowfoe, who will be graduating high school in June 2020. She’s gone through a lot to get here — 3 heart surgeries, gall bladder removal, too many ear surgeries to count, tear duct surgery twice, just to name some. But she has accomplished so much too…published a book, got her driver’s license, graduating with honors, CAST member of the year & so many more wonderful accomplishments! Just wanted parents to know, dream big! It can happen, she is my proof!
Philip and Dawn Skowfoe III were happily awaiting the arrival of their second daughter, Isabel Skowfoe, who was born on May 23, 2002 in Upstate New York. She arrived a little earlier then expected and all seemed perfect after birth but just 24 hours later, our lives, as we knew it would be changed forever.
Isabel wouldn’t eat and her limbs started turning blue; there was something definitely wrong. The next hours are a blur as she was transported to another hospital to undergo open-heart surgery and so would begin our life with 22q11.2. She’s had two open-heart surgeries with more to come, numerous set of ear tubes, two tear duct surgeries, gall bladder removal, tonsil removal and so many specialists along the way….BUT this isn’t her whole story, it was only the beginning.
I want parents of 22q11.2 kids to know, their kids like mine, are still capable of making their dreams come true with hard work and your support.
Isabel has overcome so many physical obstacles that’s why I’m even more proud to say she has published her first book at the sweet age of 16 years!! She is an author!
I would appreciate your support by passing on the word of her new fantasy book which is available for purchase on Amazon and Barnes and Noble — “Sabrina Banner, The Soul of a Sorcerer” by Isabel Skowfoe This is Book One of hopefully a series if all goes as she hopes with your support!
Remember dreams are still possible no matter what obstacles are thrown your way!
Meet Everett – February Faces of 22q Calendar
(Posted February 2020)
Everett lives in Tennessee with his older brother, mom, dad and cat and turns 4 years old this month! Everett is happiest when he has any kind of ball to play sports with and his basketball skills are quite impressive! He loves to travel, to be outside, in the water, and spend time with family. Everett is full of smiles, laughter, and likes to do anything silly to make others laugh. We are so thankful for the joy he continues to bring to our family and to anyone he meets. Even throughout his 22q journey, we are amazed at how he faces every obstacle with determination, strength, and laughter.
We noticed Everett was reaching developmental milestones a little late during his first year which led to genetic testing at 18 months old and a diagnosis of 22q deletion syndrome. We began teaching him sign language to communicate at an early age which allowed his vocabulary to soar by age two! He is very smart and, currently, his receptive language far surpasses his expressive language. With many wonderful doctors following Everett, we continue to learn more about his unique anatomy as signs and problems appear and how to overcome the challenges they present. He now attends the School for the Deaf and we praise God that he is beginning to show signs of spoken communication! Everett works and plays hard each week at his therapies to keep his development on track (speech 4 times a week, feeding therapy, occupational therapy, and physical therapy). Another big challenge for Everett associated with his diagnosis was finding out he had a posterior arch deficiency of C1. This means his C1 vertebrae is not fully formed and any impact on his head or neck can be severely dangerous. Everett has trouble understanding why this means he cannot play sports – the thing he loves the most. However, as his parents, we are learning how to navigate the world for Everett – a boy who thrives on being extremely active and adventurous – to make life for him as safe and least restrictive as possible while also helping others we meet learn to communicate with Everett!
(posted February 2020)
Q & A with Ellen
- Tell us a little about yourself… where you were born? Your current age? What your childhood was like? I was born October 4th, 1990, and I am currently 29 years old. My childhood was hard because I was in the hospital a lot. My only friends were my brother and sister, Alice and Lucas.
- When were you first diagnosed with 22q? I was diagnosed a few hours after I was born. I had my first open heart surgery and then a second one four months later. My last two happened when I was 10 and 17.
- Tell us a little about school for you… any challenges posed by 22q? How did you overcome them? School was challenging because other kids didn’t understand a non-visible disability. High school was the best time for me because I was friends with the captain of the football team, Tyler. He was like an older brother to me. I also had another friend, Ethan, who helped me a lot too. My family also played a big part in my school career. Lucas and Alice included me in their life and school activities. They helped people in my small hometown see that even though I was different, I was still able to do normal things.
- What types of activities did you do growing up? I liked to swim, read, and play musical instruments like the piano. I was also in Girl Scouts and in different clubs in high school like theater and volunteer programs. Reading was and still is my favorite activity, and I have Harry Potter to thank for that. I also liked to write, and I was (am) good at writing! I journaled a lot but also took a lot of English courses.
- Tell us about your accomplishments…. Please share those you are MOST proud of… we would love to hear all about them! I am most proud of these accomplishments: going to the dentist by myself as adult; going to another country by myself; and writing a memoir and publishing it, even if it’s not a best seller. I also graduated from college and I got a job on my own at the library. I also traveled to New York City by myself and walked the Empire State Building. That’s a huge accomplishment!
- Any advice you’d like to share to children growing up with 22q? To children growing up with 22q.11, I would say just be you – sure there’s always room to grow and there are self-help books out there, but those books mostly will tell you the same thing. Accept and love yourself because there’s only one of you. You are unique, and you are strong, and you can do it! Don’t ever let doctors or teachers push you aside, stand up and tell them you’re just as important as anyone else. Love yourself as you would love your friend. Self-compassion is very important, and I’m just beginning to learn that!
- Goals for the future? I want to become an author, mostly a Young Adult Author or write children’s books! I want to write a children’s book that will inform the world about 22.q.11. I also would love to travel more and spend time with my family.
- Did you go to college? Tell us about that? Yes, I went to college. It was rough. I didn’t graduate from a four-year college, but a two-year college. I liked it better, and I loved being an art major.
- Anything else you’d like to share? I would like to say thank you to my family and friends, and especially to my Dad. I love you 3000, Dad. My Dad has helped me grow and has become my biggest role model in life. I do not know where I would be without him today, and I’m incredibly thankful. The other person I’m incredibly thankful for is J.K. Rowling. Without Harry, I would not have gotten through school in one piece. Harry taught me it’s okay to be different, it’s okay to have visible and emotional scars. Most of all, Harry gave me my love of reading.
Felix’s Story, as told by Felix’s Dad
(Posted January 2020)
Felix came into our lives when he was 20 months old, through the foster care system, and we adopted him a few weeks before his 4th birthday. We knew he had medical needs, but we had no idea to what extent when we first met. We learned Felix had 22.q.11.2 duplication from his previous foster family, who had genetic testing done. All we really knew was that this condition affects everyone differently, and has a wide range of possible symptoms throughout your body. The last couple of years, we have helped Felix work through his medical issues, and are still working our way through them daily. We’ve learned a lot on this journey so far; so many things we never thought we’d need to learn. For example, I personally never realized “feeding therapy” existed. Other than 22q.11.2 duplication, Felix has been diagnosed with auditory neuropathy, failure to thrive, sensory processing disorder, and is globally-delayed. He’s been in speech therapy, occupational therapy, physical therapy, has a hearing aid, and had a feeding tube placed when he was 3. Felix can and does eat on his own, but he doesn’t eat enough daily to get the nutrients his body needs. Medical professionals aren’t sure why this is. He enjoys eating at times, but a lot of the time wants nothing to do with food.
Felix has been a huge blessing to our family. It’s inspiring for us to see how happy he is, and how he is always willing to learn something new. He has a big heart, and cares for people who are hurting. Felix currently loves all things Disney and super heroes. He loves to dress up in all sorts of costumes.
Looking back, it seems overwhelming looking at this journey from the beginning — especially when you feel like you’re in the dark, but it’s just “normal” for our family now. We just take one appointment at a time! The amazing part of this journey is that the progress he makes is so sweet for us to see. You pay more attention to the little steps children make in development, and can have the gratitude for it that most people take for granted.
Meet Mother and Son
(posted January 2020)
Meet Sherry, a 50-year-old mom from KY who was diagnosed with 22q in July 1999, after her son was born. Even though Sherry and her son Matthew share a 22q journey, their journeys have been very different.
Sherry says, “I was happy growing up, my childhood was good.” She was sick a lot with pneumonia and in and out of hospitals, but that didn’t stop her from her favorite activity; playing 2nd base in softball. She also played clarinet in the band, was in the Color Guard, and spent a lot of time at the pool. School for Sherry was a struggle in elementary and middle schools, but she graduated high school and went on to college. She received her Bachelors Degree in Human Services and went on to receive her Master’s Degree in Education Specializing in Mental Health Counseling. Not only did she graduate from grad school with a 3.9 GPA, but she did that while working full time as a case manager. Sherry has been married for 20 years, “my husband has been my strength after I was diagnosed. It was overwhelming and emotional. He’s always there for me no matter how hard it gets.”
Having had various careers working with children (a case manager, a clinician as a Mental Health therapist providing individual family therapy and parenting classes, as well as being a school Program Director), she says her biggest accomplishment is being a mom to her son, “I love being his mom!” Along with being her son’s full-time caregiver, she works part-time as a Parent/Rep Advocate for Developmental Disabilities to the Commonwealth Council, as appointed by a former Governor. She also learned that she loved politics after working on a political campaign. But she considers her job as “Matthew’s mom”, to be the most rewarding.
Sherry didn’t find out until she was 30 years old about her 22q, however, her son Matthew was diagnosed prenatally and his 22q journey has been quite different than hers. Matthew was born with a heart defect, had complications at birth and coded within 24 hours after he was born. He tested positive for 22q, and had his first open-heart surgery at 20 days old. His life has consisted of 4 open-heart surgeries, lots of therapies, and a feeding tube from the time he was a baby till 2007. Matthew also had 85% blockage in one lung, and 95% blockage in the other lung causing a lot of pneumonia as a baby, and required oxygen. Matthew had a stent placed to open the airway, but has been able to have that removed. Today, he is in his last semester of high school, and loves to cook. He is in the Community Work Transition Program at the school, and has been training as a cook for the last two-three years in a small local diner. His goal? To become a Chef, of course! Sherry says, “One of our favorite activities is going through cookbooks, Matthew picks out a new recipe he wants to try, he writes the ingredients down and we go grocery shopping for the meal. Matthew has overcome so much, I’m so beyond proud of him!”
In the past year, they have added a new member to the family, a dark chocolate lab named Bella. Bella is in training to be a service dog, she is 11 months old, and trains with Matthew and his family and Matthew helps with her feeding schedule and hygiene.
The 22q journey for this mother and son has been quite different. Sherry gives credit to her mother as the biggest influence in her life, “she always encouraged me not to give up.” Now, Sherry has paid that gift forward as the biggest influence in Matthew’s life, and certainly an advocate for him and others with disabilities.
Meet Lane Grissom
Hi, my name is Lane Grissom, and I’m 14 years old. I was born in Murfreesboro, Tennessee, but I live in a very small town called Manchester, which is about thirty minutes south of Murfreesboro. I have a sister Destiny, she is 19 years old and is in her first year of college at MTSU. I have a brother Tristan, he is 16 years old, attends Coffee County Central High School and plays baseball for the high school team. My parents are Doug and Erica, and we are a very active family. I make beats; play a few musical instruments and love sports, especially basketball! My family and I also like to travel; hunt, fish and we all like to play sports. We are a very close family. My favorite food is pizza and my drink of choice is Pepsi.
When I was born, my parents noticed I looked a bit different and I was sick a lot. As I began to grow, my parents also noticed I was delayed in learning to crawl, walk, talk and all my normal milestones. My mom over the years began to question my doctor on these milestones, but they ignored her inquiries. I went to public school for kindergarten and we soon learned through the teachers that I struggled in school, too. I couldn’t read, I didn’t understand how to hold a pencil, my speech was delayed, I couldn’t do simple math, and the list went on. We also found out while I was in school that, without a diagnosis, I couldn’t get the extra help I needed. Finally, my mom told the doctor, enough is enough we needed to do some tests to help me find out why I was struggling so much. My doctor then sent me to Vanderbilt Children’s Hospital for testing. They did a special test called the Fish Test, which is a simple blood test (I’m a pro at blood tests, by the way!) We waited for the results and finally, we got the call, at the age of 7, I was finally diagnosed with 22q11.2 Deletion Syndrome. That day changed my life in so many ways, and I have had many surgeries since.
I began to meet so many new amazing doctors that taught my parents and myself how to take care of me and make me feel so much better. I was also able to get help from school; answers on why I’d been so sick, and learned I shouldn’t play any contact sports which broke my heart. My doctor did more tests and found that I have an enlarged aorta, which is why I can’t play contact sports, mainly because I could get hit in the chest and cause my aorta to explode. My parents and my community over the years have helped keep me active by letting me play sports and just be extra careful. I don’t live in a bubble! LOL!! I’ve played basketball and baseball for the Special Olympics. I love music so much too! Where I live, we have a music festival that’s called Bonnaroo, and during that week of music festivities, I got to be the show closer for a smaller show in town called Fam Jam. I know how to play the drums, and I’m learning the guitar now. I take lessons and teach myself by watching YouTube and I make some “sic” beats. I played in my school’s talent show when I was in the 1st grade, and I’ve also gone on to win a few cool trophies for baseball and the Special Olympics.
What I would like people to know is that 22q doesn’t confine me and I will never let it! Yes, things can be scary and harder to do, but I’ve always tried my best and always will! My family and I love to educate people about 22q so they can better understand me and get to know the real me. I someday want to make professional beats and be a professional you tuber.
I never want to limit my dreams or myself and other people with challenges shouldn’t limit themselves either. 22q isn’t for the weak! Trust me I know, I just had surgery on October the 16th and have had a lot of complications, but I’m getting better every day. My family always says, why can’t we do anything the easy way, and I say, it’s simple, that would just be too boring.
Meet Kathy feeling blessed!
Meet Kathy, born in Plainfield, New Jersey, 51 years old, married for 25 years, and a grandmother. Kathy was just diagnosed with 22q11.2 deletion syndrome in September 2019, even though she’s had many symptoms of 22q deletion syndrome over the years. Kathy was born with a congenital heart defect called Tetralogy of Fallot, and to date has had 2 surgeries for this condition; one at 8 months, and one at 2 years of age, but her first surgery was at 2 months old. Because of her heart condition, she has always seen a cardiologist, but it wasn’t until she saw a cardiologist at the hospital in Philadelphia where the doctor asked if she had ever heard of 22q (which of course she had not), that she received her 22q11.2 diagnosis. What was her reaction? “My reaction was one of shock and sort of relief that I finally knew why I had this heart condition, but also confusion!”
Now she believes she has some answers to many of her questions about her life in her 51 years. School was not easy, she struggled a lot, and was held back in several grades; kindergarten due to her heart condition and being out of school a lot for doctor’s appointments and 8th grade due to difficulty in most subjects. She was supposed to repeat 10th grade but at age 18, she decided to quit school. “I was never tested for any type of learning disability so I just struggled.” But after a year of working all-day and going to school at night, she received her high school diploma! “I am proud of being able to graduate and get my diploma even with all of my difficulties in learning, but I am most proud of my children.”
Kathy had wanted children but was worried because of her heart condition. She says, “I knew I wanted children all of my life. We were told we should not try because of my heart condition, but I didn’t want to give up that dream. I am most proud of not giving up on that dream.” Kathy gave birth to her first child was born I had 3 children in total. Her first one was born with a congenital heart condition, cleft lip/palate and brain damage. I am positive she was 22q, but will never know for sure. She passed away when she was 4 months old but knowing what she knows now feels sure she was 22q. Her 2nd daughter, who is now 20 only had issues with urinary tract infections, is relatively healthy except for yearly upper respiratory infections. Her son has also had kidney issues. As well as tubes in his ears, “I am convinced has 22q. We will be getting him tested soon.” He had kidney surgery at 6 for a tube inside his kidney that was twisted, a condition he was born with but we were unaware of. We realized that there was something going on with him around age 4, when he was in head start preschool. He had a lot of trouble focusing, and seemed very hyper, was moodier then children his age, and seemed to get angry easily. We had him tested and he was diagnosed with ADD, Mood disorder, ADHD, he started therapies to help with those issues. He was in therapies where the therapists came to her house about 4 times a week. He was also on quite a number of different medications over the years but now he is off of all medication, and although he still has issues sometimes with anger (and really who doesn’t?); he is doing much better.
Her advice to any child who has 22q, “Do not feel bad if you need help with school or anything else. It is better to ask for help when you are young then to ignore the problem and it not get better.” And to 22q parents and children, “Don’t be afraid to ask or ashamed because it wasn’t your fault that this happened to you. Get as much support as you can, it will help in the end.”
Kathy believes her faith has been the biggest influence in her life, “I am a Christian, and can honestly say that if I didn’t believe in God and didn’t have faith, I would not be the person I am today.” She has had many wonderful supporting people in her life and says, “God will put these people in your life when you need them, even if only for a short time.”
My name is Bobbie Judge – I am Tommy’s Mom—and this is our 22q story:
(Posted December 2019)
Tommy is 8 years old and he was born in North Carolina. He has spent his entire life loving airplanes and trains. His younger years were tough with surgeries and developmental delays, but he started life as a fighter and continues to be one.
Tommy was diagnosed with 22q around three and a half weeks old, while he was in the NICU. They sent for genetic testing due to being born with Tetralogy of Fallot as well as a cleft lip and palate.
Tommy is currently in the second grade, he started attending school in Pre-K. He fatigues easily and does best with one on one instruction. He is currently thriving in an EC class reaching his goals every year.
When he is not at school, Tommy plays miracle league baseball every spring and fall. He also enjoys playing with airplanes and playing Angry Birds. On December 18, 2017, Tommy was sworn in before a judge as an honorary Sheriff’s deputy in Pitt County, NC – one of the highlights of his young life. He proudly tells anyone and everyone that he is a police office and he often wears his uniform.
Tommy is very creative – and has designed a total of 5 shirt designs for Paper Clouds Apparel (A company that features art by kids with special needs, hires adults with special needs and donates half of the profits to different causes) to benefit others. He is so proud anytime he wears one of his designs and anytime he sees someone wearing his shirts.
My advice for parents of children with 22q, or those with 22q — Celebrate every single accomplishment you make, no matter how small it is!
Tommy has turned our worlds upside down but there isn’t a single thing about him I would change if I could. I hate to see him struggling when he does and I wish I could take the pain away during the hard times but he is the single most inspiring person I have ever met. His strength is immeasurable and I am so proud of the child that he is.
Tommy has a way of inspiring others around him and he has a way of pulling out the best in people just by being him. I want him to grow up knowing how inspiring and amazing he truly is!
Standing UP with 22q!
Samantha Lively was born on May 23rd 2005, at 3 pounds 10 ounces. She was premature, and had to stay in the NICU for 8 weeks. We were worried at first, as the doctors watched her struggle to grow, but she is a fighter and proved the nurses and doctors wrong. She encountered serious health issues throughout her infant life. She was finally diagnosed with 22q in 2009. Samantha has had heart surgery, multiple ear surgeries, palette surgery, and has several more surgeries to come. She will have her bottom and top jaw broken in a couple years, to prepare for adulthood. She has 11 specialists she sees on a consistent basis and blood drawn every three months, along with CT scans, and MRI’s yearly.
Samantha is now 13 years old, and has been through tough waters and still is standing strong. She has been bullied at school because of her face and teeth and the way she talks, but still fights back and stays strong even in her darkest hours. The bullying still happens, but has slowed down with the help of the school district bringing more awareness to the students. Samantha continues to rise above the bullying, and fight back. Samantha believes different is better, and she stays true to that mantra. She has a very strong voice and wants everyone to hear it!!!
Samantha got involved in the Oklahoma Children’s Network, and met other kids going through the same situations. She loved this program and it made such a strong impact on her life, that she started to make it her “calling.” She started doing volunteer work with them and went to a lot of events. She did a fashion walk show with Children Network, and with Miss Oklahomans. Samantha started to get involved in pageants that are natural or little makeup and she won a couple even with her looking different than others. She does volunteer work for others, collects toys and books for the less fortunate, and kids in the Children’s hospital. She shares her story to help others understand anything is possible and within their reach — and to never give up! She is living proof that anything is possible and even those with differences can win pageants and make an impact on the world. Sammy continues to make a huge impact on others, as she’s made it her passion. She wants to help everyone out, even if it means giving her own things away and doing without.
She won Miss Amazing Oklahoma Preteen Queen 2018 this year, which was a true blessing. She is now standing strong and changing the world little bits at a time. She now is doing more pageants and showing people different can be better, and is trying to become a model, do fashion shows and become an advocate for those with differences like hers, and working on creating a bill against bullying. She is ready to take this world on and make a change. Sammy is a miracle child and a blessing from above. She will work hard to bring greatness to others and bring about change. She has a dream to be Miss Oklahoma, an advocate for others, or a model one day.
Sammy has a voice and a plan. She is also a Royal Court Member for the new National Pediatric Cancer Foundation Share A Smile campaign. Despite how easy it would be to walk away, Sammy has begun public speaking, appeared on KOCO News 5, participated in a benefit runway show, met with a State Rep, a politician running for governor and a published model. She is inspiring and motivating others to defy all odds and never give up. All of this because one little girl was not afraid to dream and dream BIG!!
Cheer through 22q!
Abby was born at 37 weeks on December 15, 2003. Aside from some minor complications during delivery, she was pronounced a healthy baby. At 7 hours old, after formula came out her nose (which we later learned was nasal regurgitation and common in 22q kiddos) she became grey and lifeless. The nurse rushed her to the NICU, 4 painful hours later we were told she had a collapsed lung and trouble keeping her oxygen levels up. The doctors at the time told us it was due to meconium at birth. She came home to us 8 days later.
The first 4 years of her life had her with too many illnesses to count, ER trips, 3 sets of ear tubes, and a diagnosed left hearing loss. February 6th, 2008 brought us to our local children’s hospital for what was supposed to be a routine CT scan and a bronchoscopy. Her pulmonologist was searching for a reason behind her constant cases of pneumonia, raspy breathing and occasional blueish tint around her lips. A vascular ring was suspected.
The tests went off without a hitch. In recovery, while eating a popsicle and listening to discharge instructions, all the monitors began going off. Pulse ox dipped to the 70’s, eyes got glassy, her popsicle fell to the floor. We were rushed out of the room while the staff began working on her. From around the corner, our pulmonologist was arriving to give us what we thought were some results, only to then have her rush into the room as well. Minutes that seemed like hours later, she came out, “She’s OK. She had fluid buildup in her lungs…we know why”
Abby was diagnosed with an absent left pulmonary artery and a severely hypoplastic left lung. The fluids they used during the bronchoscopy weren’t able to be properly absorbed and it was as if she was drowning. We were admitted that night for observation. With those results in hand, we set out to make a cardiologist and cardio thoracic surgeon appointment. In doing so, my research brought us to a website describing 22q deletion syndrome. So many symptoms fit. My next call was to genetics. A few weeks later, 22q deletion syndrome was confirmed.
2008 she had a summer open-heart surgery to attempt to fix her heart and lung defect, it didn’t. Summer 2010 brought another lung surgery to correct a new problem, it kind of did.
2010 to now is kind of a blur. Abby is a thriving sophomore in high school. She’s on the honor roll, the high school cheer team, student coaches a 3rd-grade cheer team, works part-time as a hostess, has friends, is learning to drive and from the outside doesn’t appear to have anything “wrong” with her.
She gets sick often, and it takes her longer to recover, but she does. She’s in all general education classes at school, and while she receives some modifications, she is held responsible for the same curriculum. She keeps her circle of friends small and prefers it that way. She enjoys shopping, music, YouTube, friends, and all the other teenage things.
On her horizon are getting her license, looking at colleges, continuing to work and cheer. A possible heart surgery in the next 5 years, hoping she continues to do well and continuing to support other families with kids with 22q.
Abby is “lucky” in many ways, we are lucky in many ways. Just last week I was contacted by our local school, a new family has a child just diagnosed with 22q. Would we be willing to be a resource for them? Absolutely!
My name is Erin Adone-Thatcher. I was born in Basingstoke, Hampshire, England. I am 17 years old. I was born 5 ½ weeks early. When I was born my parents were told there was a 99% chance that I had Downs Syndrome as I had several markers for it. The tests came back as negative, but I guess that was a sign that something was not quite right. Medically I haven’t had any serious issues yet although due to low immunity I can suffer badly from colds and sickness and I did have pneumonia when I was 8 years old. However, I recently underwent major knee surgery as I had trochlear dysplasia in both knees, it was undetermined whether this was due to 22q or not. Also in the past month, I have been rushed to hospital by ambulance twice due to concerns around my heart; this is currently under investigation as they think this could be linked to 22q.
I was late at reaching all my milestones; I didn’t walk until very late and had to have quite a lot of speech therapy, as I couldn’t talk. I even started school with the teacher not being able to understand me. My parents now tell me stories of when I was young and how I always used to run away whenever we went out, I once tried to climb into a Zebra enclosure at the zoo and I also ran away from my mum once and ended up running into a thorn bush covering myself in cuts and scratches. I never used to see the fear in things and my parents used to dread family days out, as I would just do my own thing. People used to think I was just a naughty child when I was just misunderstood. Once my behaviors were more obvious I was rarely invited to birthday parties even when I invited people to mine, this used to make me sad. I wasn’t diagnosed until I was 9 years old. I was originally diagnosed, as having Aspergers but my Mum and Dad didn’t feel this fit my behavior and so pushed for further tests.
School was hard as I struggle to process a lot of information at once and I didn’t have the social skills to make friends very easily. Also, I was bullied from junior school upwards for how I spoke and because I lacked confidence. To overcome the academic problems my mum made herself a nuisance at the schools and got me lots of help from the teachers, my parents also paid for a private math tutor in my later school years to try and help me pass my exams.
Growing up I took swimming lessons and learned to swim; I also went to Karate lessons regularly. I achieved a Black Belt in Karate in 5 years of training. This was huge for me as there were a lot of instructions I needed to follow, and I also had to learn some Japanese. But my favorite activity was dancing, I love music and dancing as this makes me happy!
I achieved a BTEC in CVQO when I was 12, this is a Vocational qualification where I learned such things as map reading and basic survival skills, but probably my biggest achievement is passing my Math GCSE in my last year of school. I am in my second year of college currently. I am studying for a BTEC Diploma in Animal Management. I achieved all distinctions for my assignments in my first year, but I do find it very hard to keep up in class as I still struggle to understand everything that the lecturer says and be able to make notes at the same time. My Mum and Dad help me a lot at home trying to get me to understand what a question is asking me to do and how to research for answers. I have made a couple of friends in my courses but still struggle to socialize outside of college with people that aren’t family.
My goals for the future include becoming a Dog Groomer and own my own Grooming Salon. I would also like to be married one day and start a family, but I have fears over my partner not accepting my condition and also that my child has a 50% chance of being born with 22q.
What is my best advice to others with 22q? Don’t be ashamed of who you are, nobody else is better than you. Don’t ever let 22q stop you from wanting to achieve things and never be afraid to ask for help!
Hello everyone; I’m Eliza, I was born in the Chippewa County Hospital in Montevideo, Minnesota. I am currently living in a small town Milbank, South Dakota with my grandparents and my mom. I was diagnosed with 22q deletion syndrome at the age of 4 or 5 and had heart surgery at the age of 4 because my trachea was wrapped around the arch of my heart. I also was diagnosed with ADHD, ADD, anxiety and depression.
I had many difficulties in preschool, elementary, middle and high school. I had a hard time learning in math and speech. I had speech therapy till freshman year of high school. I had special education for math through high school and had study hall for help with homework or studying. I went to the “Milbank 18-21 Transition Program”, and I’ve received my high school diploma this May.
Activities I’ve done growing up were softball in the summer and I was the student manager for volleyball and girls basketball but theater was my absolute favorite thing to do in high school. Drawing is my favorite hobby that I like doing on my own time. I used to enjoy spending time with my dog, Sassy. She was a corgi and lived to be 12 1/2 years old. She was the best dog I ever had. I miss her. My favorite holiday is Halloween and I also like watching dirt track racing in the summertime.
I have my driver’s license and one of my goals for the future is to get my own apartment but the one thing I’m most proud of is that I have a job at Super 8 as a housekeeper. My advice for all of you is not to give up on your goals, be kind to others and don’t let people get you down.
Peter Mason – Marching to the Drum of 22q!
“Take each challenge as they come and don’t get overwhelmed with what might happen”, is the advice from Peter Mason. Peter is a deaf musician who has won multiple individual, duets, and quartet competitions for his Drum Corp talent. The son of drummers who met through a fife and drum corps, Peter started playing at the age of 5 and then officially joined the Co. John Chester Fife and Drum Corps (the oldest active junior corps in the world), and started competing in 1995, at just 8 years old! He has won many titles over the years including Hudson Valley, Massachusetts, Connecticut, and North Eastern in individual, duet, and quartet competitions. He says his proudest moment was, “Being the first American drummer to compete and compose my own music for the Swiss Fife and Drum Federation competitions!” The Fife and Drum corps is an enormous part of his life and he spends most of his time with the Connecticut Patriots of Bristol Connecticut and the Ameri-Clique. But he is also working on an associates degree in culinary arts, studying American Sign Language and traveling.
All of this does not come easy for Peter who grew up in Connecticut, surrounded by family and friends, most of who are into fife and drum corps. He was diagnosed 22q shortly after being born with several health issues including sub mucous cleft palate, chronic ear infections, pneumonia, and heart issues. He was also born hard of hearing and due to many ear infections and surgeries, didn’t speak until age 5, which is also when he started to take an interest in drumming. School life was incredibly challenging, not only was he hard of hearing and not able to stay focused or stay organized; he also missed a lot of school due to surgeries. To this day he has had close to 40 surgeries; mostly on his ears but his first heart surgery was at age 9 and 7 of them in the past 2 years. Peter says, “Take each challenge as they come and don’t get overwhelmed with what might happen”. He has had to take his own advice when about 2 years ago he started having seizures and was diagnosed with Epilepsy. This as well as being deaf, a cochlear surgery and a cornea transplant have all made it extremely difficult to work.
Growing up he tried baseball, soccer, and Boy Scouts but health issues always made it challenging after he was finally able to join the school band in 3rd grade he found drumming was his true love! Friends were not an issue for Peter, in his early school years he gained a small circle that always stood by him, many he is still close to today. Middle school however proved to be different when some older kids started bullying him due to his need of special assistance and hearing aids. Even though his friends “had his back”, he unfortunately started to buy into the bullying tactics and as he says, “It affected me so greatly that I stopped wearing hearing aids for about 15 years, but being involved in music helped me tremendously to cope.”
All of these struggles have not stopped Peter; instead it keeps the drive going in him! He has a certificate in Culinary Arts and even though he cannot work full time (because of his recent surgeries), he has created his own work; check out his Face Book page/Food Blog called “Deafinitely Delectable”, notice the play on names? He is also working on completing his Associates Degree in Culinary arts but plans to continue his education with a major in Deaf Studies and Special Education, “So I can become a teacher for deaf kids.” Currently he is studying American Sign Language and plans to use it as his main language for communication, and English as his second language.
As a 32 year-old adult, Peter has lots of advice for children growing up with 22q, “Find a passion you love to do, develop that skill early on and you will have it for a life time, for me, that was music and drum corps, I will forever have these. Also, be sure to surround yourself with people who make you comfortable, but also don’t be afraid to open up to meeting new people.”
So who is Peter, “I am a deaf musician, and a chef, with many hobbies including writing, woodworking, music, and traveling. Music and cooking have given me opportunities to open up as a person, and to step outside of my comfort zones and allow me to travel to all different parts of the world. I love to travel and meet new people wherever I go.” With his birthday coming in a few weeks, Peter has started a fundraiser for The International 22q Foundation on Facebook, #2200for22q with a goal to raise $2,200 for 22q. He truly is acting as an advocate for 22q!
(updated February 2019) Since the original submission, Nadia ran her first Half Marathon in 2019 – 13.1 miles – for the 22q community, sporting a Saquon Barkley jersey with the International 22q11.2 Foundation logo on it! Always great to get updates from our friends who share their stories!
My name is Nadia Zomorodian and I am 22 years old living with 22q. I was diagnosed at 2 years old and as soon as the doctors saw me, they told my parent’s she has Velo-Cardio Facial Syndrome. I have had 4 surgeries. Three when I was younger and the last one I had was 2012. I have had a lot of trouble with school, but I have never been held back I was always determined to do my best so I could stay with my best friends. Thank god I did because I got to graduate high school with them and now college. I just graduated college with a degree in photography. I have four jobs. I work in a clothing store where I am now on the register. I have been working in retail for three years, but never did the register because I was afraid I would mess up until I got my second job as a photographer at Daytona International Speedway and they wanted me to try it. Little did I know, I loved it. I told my boss at the store that I want to try the register now and she allowed me to. So now I am on register at both of my jobs. I also just got a job for a film as a promotional photographer and an intern for a studio where I photograph weddings and events. My speech is really good. I do acting and modeling when I am not taking photos. I was in a few plays in high school and did acting school. That helped me become more outgoing. I was in speech therapy after I had my platelet surgery which was 3 to 9th grade. It was a good feeling when I was done with speech. I just want to tell you guys that your kid will be fine and don’t worry too much. Let them explore and have them find out what they do not like and do like. It will get easier when they get older.
Meet Brielle and her daughter Kaylee
My whole pregnancy everyone kept telling me “you’re so small, you barely look pregnant.” I never thought anything of it I just figured she was a small baby and I just wasn’t gaining weight. I ate healthy and did everything you should do when you’re pregnant; I took very good care of myself. Then I went into my 35-week doctor visit and had a normal exam. The doctor measured my belly and said I was measuring small so she wanted to send me for an ultrasound that day to get measured to be sure everything was okay. She didn’t seem worried so I didn’t worry. I called my boyfriend and told him, ”They want me to go today for an ultrasound cause they think I’m measuring small and want to double-check and make sure everything is okay.” So he left work and we went, I was nervous but didn’t think anything of it until they told me she was only 4lbs, had fetal growth restriction and I was at high risk of stillbirth. I was terrified!
I just remember thinking and saying; what did I do wrong, I should have eaten better, did more, took better care of myself. I thought it was my fault my baby girl may not make it to birth. They sent me home and told me to monitor fetal movements; I was terrified I didn’t want to go home, I worried something would go wrong.
We went to a maternal-fetal medicine doctor where they explained to us more about Growth Restriction and what to expect. They said if I didn’t have her by 39 weeks they would induce me, so I went on my leave to relax and take it easy. I went to my doctors to check on her 3 times a week until my water broke at 38 weeks and we went into labor and delivery. I had told our doctors and nurses that she was going to be a NICU baby and to have them ready but they were confused because I was 38 weeks the baby wasn’t early and wouldn’t need to be in NICU and they just went about doing what they do.
I had her August 3rd, 2019 at 3:26 pm, I remember hearing the doctors say page NICU she’s only 4lbs she needs to be checked. She stayed in NICU for just shy of a week. She had poor weight gain, low calcium, and would not eat or latch properly. I attempted breastfeeding, which didn’t go well so I pumped exclusively. The doctors were curious how I could have a 4lb baby at full term so they decided to do lots of testing while she was in the NICU, this included a genetics test which we wouldn’t find out the results until we were already home.
After the results came in they called and said they would like us to come in to discuss further. We did the wrong thing and started googling. I pushed to get an earlier appointment to discuss the findings and then we further pushed to get all the testing completed, we were determined to get my baby girl the best care she possibly could have.
The first 2 months were so painful. When they told me my heart dropped I was feeling so many emotions. What will happen to her is she okay? Did I do something wrong to cause this?
They sat us down and explained everything and started further testing. Her heart was semi-good and will test again at 6 months, her immune system looked fairly well but will need to be checked again at 6 months and so on. She has very minor complications such as PFO vs AFO, PPS, a sacral dimple, feeding difficulties, gastrointestinal reflux, nasal regurgitation, poor weight gain, butterfly vertebrae, slower development, and a belly button hernia.
I am so blessed to have her here with us today! She is so strong already and she’s only 3 months old! My heart is so full of love!!!
Addison Bolander – Choosing to Bloom with 22q!
My name is Addison Bolander and I’m 21. When I was born, I was diagnosed with a syndrome called Velo Cardio Facial Syndrome. My parents were told that I would probably not live through the first six months of life, without surgery to repair a hole in my heart. They were also told that I would probably not talk or hear. Well, I survived that heart surgery and other surgeries after that. At many points along the road, I asked, “Why do I have to have this? I can’t say that sometimes I don’t still wish I didn’t have this, but following surgery when I was 13 after they had come in to start a 7th IV, something started to change. I was crying, I felt afraid and I had pain so my mom and I started to pray. There was a tremendous peace that filled my heart and mind, it was overwhelming and I knew that I was not doing this alone. With that, I set out with a new hope that I could BLOOM with my disability. Not overcome, just BECOME who I was meant to be.
School was always hard for me since I didn’t look “disabled” I was treated differently by peers. I had extra help from the teachers and gave it my all. After 911 my father joined the military and we moved around. I was sick a lot in middle and high school and the children’s hospital was a 2 and a half-hour drive so eventually, we had to find an alternative to regular school because I was gone so much at the doctors or hospital. I started online school to stay up with my classes, but with online classes, there was no leniency with the curriculum. A missed day at the doctor meant a whole day of classes that had to be made up online. Since I don’t learn as fast as the other kids, with the help of my mom as a learning coach, I would start classes when my brothers and sisters went to school, and finish at 8 or 9 in the evening. It was so hard, but I did graduate. I even fell in love with theater arts and even wrote a mini play. I excelled in special effects makeup and I plan to attend BYU Idaho in the spring of 2020 to study theater arts.
After high school, I was called as a full-time missionary to the Arizona Gilbert Mission but unfortunately, I got sick again in the training center for Missionaries. I was given a choice, go home, or just serve for 3 months under evaluation. Well, I took the three months, and it was amazing! I learned to value what is on the inside of a person; it helped me to come out of my shell and to know how to interact with others and how to interpret different situations. I believe those three months are just what I needed because this skill has helped me become more perceptive of human emotions and to express what I’m feeling.
I am now back in Boise and have been blessed to not be seriously ill. I still have chronic pain and take medicine to keep my thyroid working and also have cat eye syndrome, (I can’t keep my eyes open very long in the sun because of the coloboma). I also have an artificial aortic insufficiency due to how they accidentally stitched my valve during my open heart surgery and can’t do much exercise, cardio, or lift heavy objects other than that I am pretty healthy.
After returning to Boise I entered a pageant to represent Idaho’s disabled youth as Idaho Miss Amazing. AND I WON!!! Representing the disabled was truly incredible. It was not for the fame or glory it was the act of one for the many who can’t. I have a great job as a dog handler at a doggie daycare, it’s just like child daycare but the dogs don’t listen to you, bite each other, poop, eat it, wait, maybe it is like regular daycare. I have been snow skiing since I was 5 and recently sign up for the Special Olympics and hope to be able to be part of the ski team. I don’t last long on the slopes since the ski boots are really tight, they have to be, and that does not go well with Mixed Connective Tissue Disease (chronic), (I forgot to mention that one), but I like to ski.
I also like to go backpacking and have been doing this with my family for as long as I can remember. I have hiked to more than 20 mountain lakes in Idaho and Colorado and usually carry my sleeping bag, air pad, clothes, hammock, and some food and a fishing pole.
I have experienced so much in my life and can’t wait for the next chapter! I have enjoyed every bit of life and eagerly wait for the next Miss Amazing Pageant and college. I feel so blessed to be able to speak and do all the things I can do today and want to be a voice to others saying, “Hey you can do this, you can because I have!” Later I would like to compile stories of disabled youth to show that when in doubt you can, and that will be the title of the book!
Hello, My name is Cynthia! I’m 24 years old from Toronto Ontario recently moved to Nova Scotia.
I was born with 22q11.2 Deletion Syndrome and was born with Type 2 Truncus Arteriosus. I’ve had 4 open-heart surgeries and multiple procedures. The first heart surgery was when I was 2 days old. I do have a conduit stent and had my valves replaced, my most recent was August 6th 2019. I had a Michanical valve replacement done.
I was adopted as a child at the age of 4. My adopted parents didn’t know anything about 22q deletion syndrome at the time or did my family, so they had to go to seminars to learn about the Syndrome. It was a very tough time for my parents and my family. I didn’t know how to speak; they ended up taking me to speech therapy and it took me a year to learn how to talk. A year and a bit after they adopted me I needed to have open-heart surgery. I had some complications during my surgery, but I ended up being just fine. My parents didn’t really have a fun time with me as a child the first few years of adopting me I was a very difficult child, I would scream and throw things. I made it very hard for them up until my late teen years.
During my elementary school years it was very difficult for me. I had trouble in school with Math and English. I would sit in class and hate every second of that class. Kids would pick on me during recess because I was different. I was always that kid who would get into trouble for everything I did. Making friend’s and my disabilities in elementary school was very challenging for me.
In my high school year’s I opened up a bit more and made some friends. I ended up being a social butterfly. I ended up falling into depression and dropped out of school at the age of 18. “I regret dropping out”. My depression and anxiety got to the point where I couldn’t leave my house. I saw several doctors and have tried a lot of medication. My depression finally broke at the age of 23 and I am living my life as positive as I can!
I did end up getting a job in my late teens. I started working as a cashier then I got a job as a dishwasher at a restaurant. I know it wasn’t the best job but to me that job was everything. I have always wanted to work in a kitchen since I was a little girl. I did have some issues keeping some jobs, but I ended up working my way from the bottom to the top and after 8 years of working in the hospitality industry. I became a Chef!
Wasn’t the easiest job! I worked long and late hours. I am right now working at a bar, club and hopefully work towards my reseal certificate.
As you know I was adopted, I ended up getting in contact with my biological aunt. Meet her and my uncle at the age 16. Years later my biological cousin found me on Facebook and got in contact with me. I meet her and my Nono. I’ve learned a lot about my biological side. I sadly couldn’t meet my mother, she passed away in 2009. My biological mother at the time was the only one in the family who had 22q11.2 Deletion Syndrome before I came along; she was also diagnosed with schizophrenia and had a similar heart defect as me. I am lucky I had skipped the schizophrenia genetic part. After my diagnosis everyone in my biological family got tested and they were all negative. So my biological mother and I were the only ones in the family who had 22q.11.2 Deletion Syndrome.
I was the only child as a kid, and I was a very draining child for my parents with all my energy. They put me in a group called Girlguide which had helped a lot with my social anxiety as a child and teen years. I would go on trips, camping, I even made some friends who are still my friends to this day as well. It was a very fun thing for me to do as a child. I learned so many things. It was a place where I can be as creative as I can.
I also did horseback riding as a child. I use to compete in horse shows as an equestrian. My parents use to take me to this thing called horse friends, where I would learn how to behave. Horse friends ended up starting a riding program so my parents signed me up. I miss horseback riding ALOT. “As far as I know I did a lot as a child and was always busy up until my teen years”.
I did not go to college but I do want to go to Australia to Le Cordon Bluè for culinary management. I have always dreamed of being a chef. “I remember I use to have a kitchen set as a child and easy bake. I would cook for my parents and make them eat it”.
I have two tattoos and I plan on getting a few more down the road. I have one tattoo that is an infinity sign that’s for my depression. It means “that no matter how hard life gets to never give up”. I also have a second tattoo that is heartbeats for my cardiac. Showing that I am a strong fighter. I enjoy gaming, SciFi and horror. I collect a lot of doctor who stuff. I have seen every episode from 1963 and listened to the old radio shows. I use to style and dye my hair a lot. But I recently shaved my head so it’s growing back healthy! I enjoy playing guitar and I am self-taught. I listen to heavy metal, Old Folk and classic rock music. My favorite bands are, Asking Alexandria, Of Mice and Men, Slipknot, RUSH, Tragically Hip, Mitalica.
My advice to kids and adults who have 22q is ” Live the life you want to live, don’t let anyone control who you want to be.”
(posted December 2018)
I had a normal pregnancy with Amirah so I had all the usual hopes and dreams prior to delivery that my child would be happy and healthy. But, Amirah turned blue while eating the day after she was born sending her to the Neonatal Intensive Care Unit (NICU) at our local hospital for a few days. She was sent home from the NICU with a diagnosis of an elevated diaphragm (the muscle that separates the chest from the abdomen) and followed for one year thereafter. Life perked along and there were no concerns…until around 6 months when we noticed Amirah wasn’t using her left arm to play with toys or reach to play…and she was not yet sitting up on her own. At that point we took her to the Children’s Hospital of Philadelphia (CHOP) where she had an MRI that showed Amirah’s brain hadn’t developed correctly…something called polymicrogyria where the surface of the brain has too many folds that are unusually small. Amirah started Early Intervention (EI) for physical therapy. Amirah sat up on her own around 10 months and continued with EI for physical therapy, speech therapy and occupational therapy until she was 3 years old when she graduated to the local EI Head Start Preschool Program.
Amirah started seeing Dr. Robert Campbell, a famous orthopedic surgeon at CHOP (who sadly passed away this past July which is why we put his name on Saquon’s cleats), when she was around 2 or 3 years old, and we noticed her spine was curved. She got a brace to slow down the growth of her curve. The first 3 months went great and her spine hadn’t changed…another 3 months went by and it changed so much that Dr. Campbell suggested surgery.
At the same time, Amirah was having asthma-like symptoms, so we started seeing Pulmonary too. When she was 4, Amirah had her spine surgery which included rod placement, and then numerous expansions and revisions. Dr. Campbell was always so nice and made me feel at ease every time Amirah needed surgery. Amirah and I really loved him and when I heard of his passing I became really emotional…
Amirah’s local speech therapist felt her speech had reached a standstill despite intensive therapy. She wasn’t improving, so she suggested we have further testing. We went to see Dr. Ken Kazahaya at CHOP and he put a camera down Amirah’s nose and saw that she didn’t have the correct structures in her palate. He referred us to Genetics because he thought she had 22q11.2 deletion syndrome.
Amirah was seen by Dr. Elaine Zackai in Genetics in December and tested for the chromosome deletion. It was on January 5th that I received the call from Center Director, Prof. Donna McDonald-McGinn, that Amirah did have 22q. She was 5 years old. Since then, I have been followed in the 22q and You Center at CHOP, where they help me coordinate Amirah’s care. Amirah and I always have such a nice time when we visit the Center. The team is full of so much knowledge. We are so grateful for the 22q and You Center. We don’t have any doctors where we live that know about 22q, so going to a place that knows what Amirah is going through is great!
Amirah was also sent to Dr. Oksana Jackson to repair the difference in her palate. Amirah was was going to be starting kindergarten at a new school. The speech expert, Cindy Solot, recommended Amirah have extensive speech therapy to prepare her for the surgery. She started kindergarten and it was tough for me. I didn’t want other kids or her teachers to not be able to understand her. About a month into school, Amirah was ready and had her surgery. It was one of the best decisions we made. Her speech improved so much. She was able to communicate by herself and have conversations with her friends. Amirah still receives speech therapy at school and in speech clinic.
We always hoped to give back to the 22q community that has helped us so much, through the International 22q11.2 Foundation, Inc. The Foundation has been raising awareness, supporting early diagnosis, accessing the best possible clinical care and partnering with professionals who know about the condition. They are promoting continuing research working towards improved interventions, and they have helped to create an international community with other family organizations around the world. Their work includes campaigns for instituting newborn screening for 22q, so no child will need to wait until 5 years of age to have a diagnosis of 22q. However, most importantly, the Foundation helps families navigate this complex condition and better cope with the hurdles that come along.
The International 22q11.2 Foundation has been doing this for more than 15 years — through events like their signature event, 22q at the Zoo Worldwide Awareness Day, which brings families to a local Zoo, Aquarium or other location, on the same day in May — but since it is happening around the world, everyone feels connected. We love attending 22q at the Zoo at the Philadelphia Zoo because it is fun for Amirah, it is fun for us, and most importantly when we are there we don’t feel alone.
We are so very lucky to have Amirah in our lives and also to have her uncle committed to helping Amirah and other children with 22q deletion syndrome. When Saquon was in college we had a 5k for 22q, but he said when he makes it to the NFL and has a bigger platform he wants to bring even greater awareness to 22q. When he was picked to participate in the “My Cause My Cleats” initiative, he knew what he would pick. He wanted to help raise awareness for 22q so he designed his cleats with the International 22q11.2 Foundation’s logo on them. He also has a photo with him and Amirah on them. They have a very special bond and he will be wearing them on December 2nd when the Giants play the Chicago Bears in the Meadowlands.
If I could tell the world about 22q deletion syndrome, I would say that it is common – but most people have never heard of it. It is the 2nd most common chromosome difference after Down syndrome and the second most common cause of heart defects and developmental differences after Down syndrome. It is the most common cause of abnormalities of the palate and a common cause of scoliosis, polymicrogyria, and feeding and swallowing differences. But 22q deletion syndrome is really variable and some people have very few medical problems. 22q deletion syndrome is also a common cause of learning differences, ADHD, anxiety, and autism. 22q deletion syndrome does not generally run in the family and it is nothing that the parents did or didn’t do to make it happen – and this message is very important! If I could tell the world about 22q I would say that my entire family just wants to let everyone know that they are not alone. We want to encourage families affected by 22q deletion syndrome to take it one day at a time. 22q deletion syndrome has been challenging at times, but with a positive attitude you can make it through anything.
Seth Wilson – What a Difference 33 years can make!
Imagine it’s the year 1981; a child is born with VSD/ASD heart defect, clubfoot, and cleft palate and no real medical diagnosis. As this child grows, he has many other medical difficulties as well as several learning disabilities, but still no type of diagnosis. In today’s world, that sounds a bit unreal with all of the medical knowledge, DNA and Chromosome testing available to us, we would most likely have some type of diagnosis. In the past years, we have learned that 1 in 68 children with congenital heart disease and 5 to 8 percent of children born with cleft palate have the 22q11.2 deletion, so most likely a child born today with these symptoms would be diagnosed with the 22q11.2 deletion right away. Knowledge about 22q has come a long way since 1981, and because of the medical progress made, 37-year-old Seth Wilson is now armed with the knowledge we have now, to help in the decisions he will have to make, while raising his own son, who also has the deletion.
Seth was born in Denver, CO with many complications including a VSD/ASD heart defect and had his first surgery at 9 months of age. At an early age, he had many surgeries on his clubfoot requiring it to be broken several times as well as stretching his Achilles tendon to straighten it out. He had surgery for a cleft palate, and was not able to speak until age 4. Then, he had throat surgery, which enabled him to start speech therapy, which he continued through 2nd grade. While all of this was going on, he endured multiple surgeries on his eardrums (resulting in a 20% loss of hearing), and several hernia surgeries; his last one was March 2019. So when and how did Seth’s 22q diagnosis come about? Like so many of our adults with the deletion, he found out after becoming a parent himself. When his wife became pregnant, the doctors were concerned about Seth’s medical issues as a baby and growing up, and upon testing, he learned he in fact had the deletion.
Seth describes his childhood as normal. “I knew my parents loved me and wanted the best for me, I was well cared for, had a roof over my and was fed,” said Seth. However, he does feel his parents were a little overprotective due to his medical conditions and didn’t really let him get out and make his own mistakes. And like others with the deletion, school for Seth was hard, even though he was homeschooled along with his older brother and a younger sister. Dyslexia made it very difficult for Seth to read, so of course, he said, “I hated reading because it seemed like I was always finishing last and not really understanding exactly about what I read.” Seth considers getting over dyslexia one of his biggest challenges. He also has ADHD, but never wanted to be tested because he did not want to be “labeled” with a disability.
“I wanted to be treated like everyone else, despite my medical conditions,” Seth added.
Seth has a very outgoing personality and has always enjoyed being outdoors with his friends. Since he was homeschooled, he liked to get out of the house to do as much as possible. In middle school, Seth’s mother introduced him to music — first playing the piano, and then playing the saxophone in high school. He liked playing soccer, or any type of recreational sport for that matter and he says, “Camping and fishing was a big thing for me when I could go. I loved going skiing and snowboarding with friends during church trips as well.” In his later teens, he really enjoyed paintball, too. With his personality, he always had many friends and was never lonely.
Today, Seth has been married to his lovely wife, Michelle, more than 5 years, he says they are complete opposites but that’s the way they like it. “We complete each other, and I can’t imagine a day without her! I never learned to relax until I met Michelle; she convinced me, it’s okay to just get work done and then sit down and enjoy some peace and quiet just for yourself!” Together they have a 3-year-old son Wesley, Seth’s pride and joy, who was diagnosed with 22q prior to birth. They are also in the beginning stages of adopting through foster care.
At times, Seth can be very self-conscious and beat himself up especially about all of his scars until he met a friend who had the same scar; he told Seth that he was part of the ‘sew me up club!’ His friend said, “Be proud of those scars, and treat them like battle wounds of life!” Which is exactly what Seth now tries to do. Above all, Seth has many goals for this life; a happy family, to raise kids who enjoy themselves and make this world a better place, to complete a full marathon later this year or next, and to be really good at photorealistic portrait sketching.
My name is Chelsea Gaughran. I was born with 22q11.2 Deletion syndrome. My parents found out when I was around 2 years old. I have struggled with panic attacks throughout my life, along with other issues. I live in Virginia; I am 29, and will turn 30 in May. I am proud of what I have accomplished during my life. I went to public school up until 4th grade, then transferred to a private school, called North Star Academy in 5th grade. I graduated from there in 2007.
After graduation, I was hired to work behind the scenes at a local car wash, taking care of many things like making sure the drying towels are washed, dried and ready to use each day, etc., and I have worked for 11 years. Through it all, my family has supported me — and my mom is my rock! I love my family — I have a younger brother.
I am involved with Special Olympics, which has changed my life and helps me to come out of my comfort zone. Special Olympics is for all age athletes, and it’s so much fun. I am also a global messenger for Special Olympics. A Special Olympics Global Messenger helps spread the word for Special Olympics – as an ambassador for the program. The photo I’ve included with my story is from the 50th anniversary of Special Olympics state games at the University of Richmond last summer. I highly recommend getting involved in Special Olympics, locally, if you are able.
Through the years I have learned so much, and I’m not afraid to talk about what I have; I was taught to not be afraid of who I am, and I’m so proud of what I have become. I was sick a lot when I was young — I’ve had 23 MRI’s and a lot of other medical stuff. But I love my life, and how far I have come with it — I would love to share this story for others to see. I live at home with my mom and dad, and I have a therapy dog named Angel; she’s a German Shepard. I have 14 cousins and we all live within a mile of each other, which is a lot of fun too! I love music, going on vacation, and family parties. A quote I live by now, that was inspired by the movie Soul Surfer is this — I don’t need easy, I just need possible.”
LINDSAY FLAX – Author, Teen With A Heart
Lindsay Flax is a beautiful young woman living resiliently with 22q. At the age of 22, she is living independently as she transitions into adulthood. Lindsay’s parents found out almost immediately after her birth that she had a heart murmur. She was then diagnosed with the heart condition Tetralogy of Fallot. Soon after that, doctors discovered there was something different about her DNA and after doing a FISH test she was diagnosed with 22q11.2 Deletion Syndrome. At the age of 4 months, Lindsey had her first open heart surgery, which would be one of many surgeries for her heart, feet, throat and just recently, a procedure on her artificial heart valve.
These struggles have not been a deterrent to Lindsey at all, in fact this is what drives her to accomplish her dreams. Lindsay attended private schools for children with learning differences for most of her K-12 years and graduated from High School in 2014. She is currently a Senior at Beacon College in Florida, the first accredited college to offer four-year degrees to students with learning differences. Lindsey has a caring heart and proves this by spending most of her free time working and volunteering. She has volunteered with Camp Brave Heart, her local Jewish Community Center and currently is working as an intern with the 22q Family Foundation and this summer she is working at a Jewish camp in Atlanta as an intern taking photos and teaching art. Lindsay has created a Blog: Teen with a Heart, which she started with the intention of reaching out to teens struggling with 22q, but says it has been just as helpful and followed by adults seeking answers for their children. There is also an e-book available on Etsy by the same name, Teen With a Heart, and was written as a guide for teens with 22q Deletion Syndrome.
Not many people would look at their differences as a benefit, but this is not so with Lindsay. Besides her parents and younger sister, who she says are the most influential people in her life, she attributes her success to the confidence she has in herself and what she can do, “I have learned so much from my Mom and when moments/days are hard, I just push through and make a way to get done what I can, if it’s in the way, I don’t let it be.” With all Lindsey has accomplished so far she says her greatest accomplishment is, “Just being where I am today!” So, what is Lindsay’s advice to others with 22q? “Always be yourself, things will not always go as you plan, but as life comes to you, never give up.”
“Keep pushing yourself to do your best!”
“Keep on pushing yourself to do your best,” is the advice from Katie Brady. Katie born in the Jersey Shore area now lives in South Carolina and is doing everything a single 31-year-old should be doing. Due to her hard work and perseverance, Katie says, “I’ve accomplished many things that when I was young, my doctors never thought I would be able to do.” Her doctors never thought she would be able to make and keep friends, get a driver’s my license or graduate high school, and of course, they never thought she would go to college, but she says, “I have three degrees and working on my fourth!” Katie is a young lady who knows the art of pushing herself above and beyond!
Katie’s first surgery was at eight months old to repair an Atrial Septal Defect (ASD) but she was not diagnosed with 22q until the age of seven. As a young girl, Katie suffered many different health issues and was very low on the growth charts when her pediatrician diagnosed her with JRA; Juvenile Rheumatoid Arthritis. She was then referred to Children’s Hospital of Philadelphia (CHOP) where she was diagnosed with 22q11.2 deletion. Even though she was often sick and her health interfered with her schoolwork, she kept pushing forward. “Unless I had a stomach bug, my mom made me go to school” she said.
As for school, her learning disabilities were a real challenge, and she remembers often escaping to the school nurse to keep from doing work. In elementary and middle school years, she took speech and was given an in-class support special education teacher, but in high school, she learned to self-advocate and requested to no longer leave classes for speech. Even though she continued to take advantage of using her special accommodations for school, she began speaking up for herself to her teachers about what was and was not helpful for her learning.
“I learned how to speak for myself and ask for help when I needed it,” says Katie. She also began participating in sports with friends. “I would struggle because I would try my best… I was never up to par with size or skill, but the coaches always supported the effort I put in.” Being a poor test taker, Katie opted out of taking the SAT and after high school attended a community college where she graduated with an Associate’s degree in Early Childhood Education. She followed this with a Bachelor’s degree in Psychology from Ramapo College of NJ. After working a few years, the idea of becoming an interpreter inspired her to go back to school for a degree in American Sign Language and Deaf Studies. She soon realized that was not the right fit for her, but went on to graduate with a certificate of completion. Today she is focused on being accepted into a Master’s degree program in special education, specifically Learning Differences.
As Katie grew out of adolescence, many of her health problems seemed to diminish or as she says, “I learned how to deal with my issues. I wanted my life to be as normal and as independent as it could be and thanks to my parents, who are awesome and a great support system, I have done that.” There are a few lingering health issues related to taking growth hormones. “I’m currently recovering from Patellofemoral Medial Ligament Reconstructive Surgery and go to physical therapy three times a week.”
Today she works with an autistic student, babysits after work, has friends and is dating! “I’m always multitasking and doing everything a 31-year-old today should be doing. My goal right now is to become a certified Special Education teacher in South Carolina through their alternate route program. I hope to get married and have a family one day, I just want to continue being the best version of myself every day and improve on my weaknesses.” What is her best advice to other young adults with 22q? “Keep pushing yourself to do your best. Ask for help when you need it and when the hard days seem impossible to get through, just picture yourself where you want to be. Find your passion in life and don’t let anybody stop you from getting what you want.”
Never give up!!! Always strive for your dreams. And I’ve done just that.I would like to take a moment and share my success with Q22. I was diagnosed with Q22 on July 14, 2010. Prior to being diagnosed with Q22 I’ve had 5 previous cardiac surgeries. 2 major and 3 minor. Tetrollogy of Fallot at the age of 4 back in 1984, a I.C.D. aka defibulator implant in 2000 after finding that I could produce a tachycardia arrhythmia at rest, a I.C.D. replacement in 2007, a Pulminary valve replacement in January 2010 and another I.C.D. of April 2010. I’ve started my martial arts journey back in 1985 with studies in Tae Kwon Do, Hapkido and Tai Chi. I currently hold an international rank in Tae Kwon Do of 2nd Degree and a school rank of 3rd Degree. With Hapkido I’m currently a 2nd Degree black belt and is recognized over in Korea. In April of 2014, I was inducted into the United States Martial Arts Hall of Fame in Indianapolis Indiana. I am the owner of Dearborn County School of Martial Arts and currently teach 33 students in Tae Kwon Do, Hapkido and Tai Chi. The martial arts is my passion in life and love seeing my students grow in character and becoming the students I know they can be. Throughout my life outside of the martial arts I currently am full time employed with Krogers and have been with the company for 4 years. With schooling, growing up with grade school and high school I was never an a/b student but did maintain a C average and did a couple of years in college. In school the activities outside of the martial arts I participated in was I was on the varsity Tennis team in high school and participated in band all four years with a percussion background. Prior to high school I played baseball all the way up through Babe Ruth.
This past Saturday, February 28th I had the distinct honor in participating along with my students in a demonstration / seminar / question and answer session on Q22 with Bettsy Leech with Children’s Hospital in Cincinnati Ohio. Some of the questions that was asked of me prior in an email was the following;
- What did you enjoy most in school? – What I enjoyed the most in school aside from being around my friends was the activities such as band and tennis that I participated in.
- How did you get involved in Tae Kwon Do? – My mother was the first that introduced me into Tae Kwon Do by putting me in a class that was here in Lawrenceburg and she knew the instructor. But also around that time back in 1985 after I was cleared from my doctors Teenage Mutant Ninja Turtles and the Karate Kid was very popular at the time. And that was what peaked my curiosity in the arts.
- When did you find out about 22Q and how were you informed? – I was informed that I had q22 through a fish study through Children’s Hospital of Cincinnati back in 2010
- What are some of the biggest things you want to accomplish? – Though the Hall of Fame induction was a great honor, one goal I have is to see my students through their goals and achieve there dreams in the arts. But as a another goal. I do have a goal of opening up my own store location for my school here in town for as I currently run out of two rec centers with my classes. Also I plan on testing for my Master’s degree in Tae Kwon Do in 2017. But for a major goal when the time comes to test for my 5th Degree I plan on testing in South Korea at Tae Kwon Do’s head quarters. And just to grow in my other arts I study as well. Plus I would love to see through Tae Kwon Do to be included in the Special Olympics.
Outside of my studies in the martial arts one goal would be to be able to work with Children’s Hospital in Cincinnati in some way shape or form in connection with Q22 and help continue to spread the awareness of it. And to help others cope with Q22.
Never settle for second best. Always continue to set goals and strive them no matter how big the goal may be. I’ve never felt any different from anyone else. My step-dad asked me this same question after finding out about this and my exact words was no different. So never give up !!!!!! Always strive for the best in life and meet your goals in life.
“A teacher is never a giver of truth – he is a guide, a pointer to the truth that each student must find for himself. A good teacher is merely a catalyst.” – Bruce Lee
Inspirational Music & Videos
- From 5 young women with VCFS who, together with a Dutch singer/songwriter Maud Wilms, produced a beautiful song about the challenges they face every day, and their love for life! Two of the women play the piano and flute in this song. The song has English subtitles. Watch now!
- Todd Simpson – Accomplished musician with 22q11.2 DS. Learn more!
- What would you tell yourself? This beautiful and inspiring video is a montage of parents and their heart-warming advice to others with special-needs children.
- Knocking Down 22q – An inspirational video of a young adult sharing the ways in which she copes with 22q
What I’ve Learned From 9 Years Parenting a Child With a Rare Disorder
Over the years, I have learned that the 22q11.2 deletion that once defined how I thought of my sweet baby girl, that once took my breath and my dreams away, has faded into simply a word on her chart and a source of hope when I read it in the latest article on stem cell therapy’s incredible promise. I look at my daughter Nadia and I don’t see her deletion, heart repair or missing kidney. I marvel that she has the sweetest and biggest soul I have ever seen in a child. I don’t see her speech delay. I don’t see her low tone or foot braces. They are long gone. She gave up signing at age 4 and never looked back – although she often uses hilarious gestures while she is dancing and singing in the shower. I don’t see her learning difficulties. She just read me an entire chapter book and giggled at the funny parts with such delight that I found myself captivated by a children’s story. About hippos.
I don’t see her doctor visits – 20 in the past three months. When we left her appointment last week, she clutched my hand while skipping and told me that “our date” was her favorite part of the day. I don’t see her fused spine, because she surfs and skis and does cartwheels and she literally bounces with joy. Most days, I don’t even see her immune deficiency. Through magic, impossibly wonderful teachers and friends and loads of prayers, she not only goes to school every day, but loves school every day. I think our luck is quite simply otherworldly. Honestly, I think her love and fairy dust have healed all of us and blown into every little corner of our world.
In utero and at two months, we were terrified about what would happen if we lost our baby, our precious baby. We were told that things might work out, but she was little. But her labs were off. But her numbers were low. But they didn’t know. But she had this deletion. We prepared for a long heart surgery that would bring a grown man to his knees. That did bring my doctor husband, the one who never worried or cried, who tended to gunshot wounds in trauma centers, to his knees.
We shut off the radio. We went to bed at 8. We slept fitfully, in between her feedings, and laid solemnly in bed until we had to get up and face the day. We stopped talking to friends with healthy kids because it was impossible to relate to teething and solid food debates when we were researching Duke doctors to do thymic transplants, or finding specialists to help with surgeries. We curled up and rocked our baby, more for us than for her, and needed our own moms and dads more than we had since we were children. I wondered if I had taken more prenatal vitamins, eaten more wheatgrass, more green smoothies, avoided whitening toothpaste, gotten more sleep in pregnancy, if I could have made a difference – spared my baby girl the list of anomalies that stared at me from the hospital’s brochures that accompanied each visit to a different specialist.
And then, the sun came out. It was brighter than anything you have ever seen. Nadia, even as an infant, had a smile so sparkling and brilliant, that it made her eyes scrunch shut. Apparently, the well that sorrow carved was indeed deep enough to hold a lifetime of joy in the smallest imaginable package – 20 pounds at 2 years, 30 pounds at age 6, 40 pounds at age 9. Despite her size, she packs a serious punch. She takes everything in stride and has such a big personality that sometimes I am surprised when I see the scale.
I think we often want our kids to be like us, to meet our standards, to make us proud with their achievements and mimic us so we can relate. We want to show the world how successful and bright our children are – an extension of us. In this case, I think the opposite is true. I think we more often strive to be like her, to accept her for precisely who she is and for what her best is rather than “the best.” She loves so deeply, enjoys so richly and feels joy so intensely that it is like watching a beautiful sunrise and feeling the heat of the best summer day, all at once. She isn’t reserved or self-conscious, like me, and our journey has let me see the best and most beautiful parts of everyone. So, on her birthday, I felt compelled, contrary to my nature but so fitting with Nadia’s, to share something personal with the world, without worrying what others will think.
Since that cold and overcast day nine years ago, we have witnessed countless quiet, unspeakably beautiful acts of kindness towards Nadia and towards us. She has turned our world, our friends, our coaches, our teachers, our neighbors, into family. From the friend who brought me her pillow when I first checked into the Children’s Hospital with Nadia because she was a nurse and knew that her pillow would be softer, more comfortable, to the stoic neighbor who brought soup and dropped it on our doorstep, along with a tiny note and an angel pin that remains affixed to the shade of her infant car seat that I just can’t part with, I am left in awe. From my sister and family who have listened to every high and low and sifted it out for me with such grace that I swear they walk on water, to the friends who gave us a little jar of glitter fairy dust that still sits on Nadia’s dresser and will surely be sprinkled somewhere on her wedding day, the world has rallied around us and held us together.
Nadia recently made rainbow loom bracelets for practically the entire team and stands at my son’s basketball tournament. She took such delight in each gift, in sneaking up and delivering them, in selecting just the right colors and in seeing the look on their faces when she gave them her gift. I was touched, but honestly more grateful for the brilliant guy who marketed rubber band bracelets and kept her occupied for a day in a gym. However, the next weekend, when I saw, not one, not two, but practically a dozen people—coaches, grandparents, teammates, roll up their sleeves, just a bit, or sneak a little wink, to show her that they had worn it for good luck, I saw her light up and stand taller. And I knew. Right then.
This is the story of Nadia. She hugs bigger. She burns brighter. She loves deeper. And she seems to be the happiest little girl, despite her differences, despite everything. I think she is here to teach us that our well can run over with joy if we just live simply, happily, and with loads of love for the world. She accepts everyone just as they are. On her birthday, I hope the world can see, above everything else, that love and acceptance is indeed all we need.
I still worry about her as she grows up, that her differences might matter more. To others. To her GPA. To herself. To colleges. To peers. But I recently watched a video, 1,000 Miles of Luca, and realized a simple truth. We don’t spend time with people because they are the smartest, the most academic, the most athletic, or the most articulate. We spend time with people because of how they make us feel. I hold fast to that today because I am celebrating my amazing daughter and the ripples of joy she has spread in only nine years. The sky’s the limit, baby. The sky’s the limit.
My daughter is the brightest light I know and despite the many clouds that have covered her sky in the past decade, her star remains, forever twinkling. My daughter, Nadia, has 22Q11.2, a chromosomal deletion that made her early years almost unbearable in their uncertainty and responsibility, the sterilized smell that permeates every hospital and doctor office still brings me instantly back to those dark and stormy days, her surgeries and those long and sleepless nights. Yet even when Nadia was an infant and toppling toddler, I always knew that no matter what her deletion had taken away from her, her spirit had given her this enormous dose of joy, unparalleled and raw. Her happiness sparkling all the more in such stark contrast to the despair I felt in caring for someone whose needs that were not in the index of my well-used parenting book from rearing my firstborn. My teary uncertainty always balanced by her surprising ability to seem to know just what we needed to keep the faith–to belly laugh before I knew she could hear what I was saying, her coy smile beaming at me from her infant car seat on the way back from long specialist appointments, her jokes in sign language after speech therapists told us to consider a laptop to type her thoughts, her ability to dance the macarena with ankle braces and not miss a beat. For years, we have tried our best to find the right path for her, with doctors, teachers and life, but without a doubt, Nadia has lit the way…in her inexplicably fearless way.
All along we have been saying to ourselves that it is remarkable that Nadia’s spirit, unlike her immune system, remains uncompromised. In the 29 years before her arrival, I never realized all of the things I took for granted. I honestly never gave a thought to how little it would take to make me happy after seeing our dreams crumple when our daughter was first born and we realized she would always have to struggle with things we had never before counted as blessings–the luxury of two kidneys, a normal immune system and hearing, a typical working memory and number sense. Even after heart surgery at 5 pounds, kindergarten at 5 years and a whopping 28 pounds and middle school at 10 years and under 4 feet tall, Nadia still appeared, until recently, to be larger than life, her loud chuckle enough to spread cheer on even the hardest of days. Her joy and her boundless affection the perfect antidote for her silent battle with a missing piece of chromosome, one that robbed her of a sequence of about 3 million DNA building blocks (base pairs) on one copy of chromosome 22 in each cell. Something that sounds complicated when I read about it, but incredibly, is even more convoluted in real life, the almost 200 known health and developmental issues 22Q causes in children impacting Nadia in big and small ways, in the past, present and future, like a dark unknown lurking at every corner. We try to ignore the list of worries and doctor visits and carry on with our chin up and our big, fat bucket list, determined to enjoy every step of the way after her tumultuous start. But, it isn’t easy, particularly when I see Nadia’s light flicker, dimmed by life, by IEP’s, by cruel kids, by differences and ignorance, by things that matter to her, the simple, but the oh so complicated.
As Nadia enters her third month of middle school, I will admit that the transition has been akin to expecting to drive over a speed bump and instead finding ourselves driving up Mt. Everest in a Yugo. I say driving up, because we haven’t yet reached the pretty part, the part with the view, the part with the downhill, the easy coast at the end. This appears to be the part where I am putting the pedal to the medal and yet accelerating just to gain enough momentum to move my car, my daughter, slightly, imperceptibly forward. It is a big mountain, and most days, I honestly can’t tell if I have made any progress, or more importantly, if Nadia has made any gains, because the view up the huge mountain looks the same. Daunting. Nearly impossible. Never-ending.
I keep referring to Nadia’s IEP like it has all of the magic answers to scaling the mountain of public education with a daughter whose IEP has health and learning components that are supposed to help her in almost every possible area of school–from germ patrol for her severely compromised immune system to gym patrol for her fused spine and joint pain and solitary kidney to reading, writing and math, for the areas of her brain and memory that were all impacted by that missing minuscule piece of chromosome 22 . Apparently, that sequence of 3 million DNA base pairs had a lot it was supposed to do. Go figure. Unfortunately, asking a new middle school team with a complicated schedule of teachers, aides and classes to accommodate Nadia’s deletion based on her IEP is like trying to ask Nadia to drive herself up the mountain, with limited directions, no license and no GPS. She may be able to stay on the road, she may even be able to keep up with the other cars for awhile, but she would have no idea where she is going, other than going with the flow. No, she isn’t causing accidents and holding up traffic. She isn’t flagging someone down to say she’s lost. But, she has no business being behind the wheel. She doesn’t know how to navigate the road ahead, she doesn’t even know where she’s going. Sadly, this is precisely the way her middle school day progresses. When I ask for feedback, for special directions, for a navigation system, for modifications so that Nadia can see over the steering wheel, can get to where she wants to go, the teachers seem puzzled, frustrated and disjointed, their part of the trip a small part of the journey, unaware that without each piece, Nadia isn’t moving forward. That she might, God forbid, crash. The teachers don’t see her when she comes home at night, crushed and feeling completely lost.
As Nadia continues to come home each night with an empty planner with the exception of “Read,” despite 8 classes in her schedule, my hope in special education, in appropriate, individualized instruction dwindles and Nadia, my larger-than-life little one, finds her confidence shrinking as well. “How’s Gym?” I ask her, hoping to find a neutral topic. She replies, “I bombed it.” “Gym?” I ask again. “No, German. Or Gym,” she replies. “That’s too bad. How come, peanut?” I ask, feeling my heart sink as she shrugs her shoulders, “I’m not sure.” She switches gears, “I am supposed to make a flag of John Cabot, though.” Hmmm. That’s a new one for me, but it turned out to the epitome of why switching classes and teachers multiple times a day in middle school is the less-than-exhilarating uphill climb.
I proceeded to ask Nadia about John Cabot, who is apparently an Explorer that she’s learning about in Social Studies. I said, “Well, what do you know about John Cabot?” “He’s from 1492,” she says. “Were you born then?” she asks, staring at me with her big brown eyes. “Nope,” I say. “That was a really long time ago, Nadia.” “Was Dylan?” she wonders, even though he is her 13-year old brother, her deficiency in her sense of time not allowing her to understand the timeline of events, past or present. ” Nope,” I say again, wondering if I should explain how long ago it was, but she interrupts, “He was an Indian explorer from Italy, I think. I make notecards.” “Do you have a test coming up?” I inquire. She ignores me and continues, “He sailed seven seas. I think, and I have to find his flag and color it.” She walks over to our computer, googles “John Cabot flag” independently, pulls out a piece of white paper and starts sketching the flag. Perfectly. She colors it in and as she does so, I feel ever-so-slightly reassured. I compliment her, “WOW. I didn’t even know explorers had flags. That’s impressive, Nadia. What did he do when he was an explorer, do you think?” She contemplates the question, and guesses, “Mine died. Looking for gold?” Hmmm. Without knowing who John Cabot is, I try to summarize my surprisingly limited recollection of explorers, thankful it is was recently Columbus Day and I refreshed my memory, and she replies, “Did you know those explorers?” “No, sweetie,” I say, tears suddenly stinging my eyes. As she’s coloring, she says with a big smile that lights up her face, “That would have been exciting, wouldn’t it?” Yes, yes it would, I think, staring at her twinkling eyes. Deep down, Nadia is still happy and she is healthy enough to attend school. I need to keep my eye on the prize, I tell myself. On her extraordinary light.
I read a quote recently from Yogi Bahjan, part of my more-zen, less-wine approach to our middle-school struggles, and every time I reread it, I can picture Nadia, my shining star, “Every human needs loftiness: exaltedness, self-confidence and appreciation. To be grateful that we are alive at this moment and we are alive together. It’s like stars in the sky on the same night. Some are big, some are small, some are shining. Some come late. Some come earlier. But in the brim of the night, all are lit on their axle. On their orbit, they exist. That is the condition of every human.” For Nadia’s joy and sparkle, and simply having her here with us, I am grateful. For today, for now, despite the uphill middle school climb, I try to remind myself that is all that matters.
I find myself
I find myself crying when I think about your past
When I gaze upon a newborn, sleeping without scars
When I listen to a toddler, talking without fault
When I watch surrounding children, growing up carefree
Then I gaze upon your scars
Then I listen to you struggle
Then I feel a wave of sadness, so deep it drowns my heart
I find myself crying when I think about your future
I have surrounded myself with stories of blackness,
With tales of hollow and lives of despair.
I am worried for you, but I am scared for myself –
If I miss the signs then I lose you, a fate I could not bear.
So I find myself crying over things I hope may never come.
I find myself crying when I think about you now
When I think about the bravery you show
When I hear your joyous laughter
When I feel the strength of your pure love
When I see the way you make the sun shine through the clouds
So I find myself crying, but this time happy tears.
You are a perfect reminder to not look back and to not worry ahead
But simply find comfort and joy in the present.
Through you I have found myself.
by Lucy Jackson, Mother