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!
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!
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.”