Jeff was born on November 23, 1992 and we immediately knew he had a cleft of the soft palate and low calcium levels. We were told that nothing else was wrong with our son. We took him home on Thanksgiving Day that year and he immediately began having feeding problems. We struggled with these feeding problems for a few months even though we were constantly taking him to see the pediatrician. We finally ended up at Children’s Hospital in Omaha, NE, because Jeff was failing to thrive. We began feeding Jeff through an NG tube and hoped that our struggles were over. They were not. The feeding issues improved, but his constant infections and croupy cough continued to worsen. It wasn’t until Jeff was six years old that everything fell into place. The doctor that had been treating Jeff for asthma knew that there was something else wrong with Jeff and sent us to see a Pulmonologist in Omaha. After a chest x-ray and many other tests it was discovered that Jeff had a right-sided aortic arch and vascular ring (which is a ring of vessels tightly surrounding Jeff’s trachea and esophagus). At that point the 22q FISH test was ordered and came back positive. The diagnosis explained everything that had been wrong with Jeff over the years: feeding difficulties, immune system deficiency, breathing difficulties and croupy cough! A month later Jeff had surgery to separate the vascular ring and things began to improve. Jeff’s aorta will always compress his esophagus, but it doesn’t ever seem to slow him down. He’s an awesome kid who has made our lives amazing!
Alannah was born on 7th May 2006 after a normal pregnancy and very fast delivery. All appeared fine and we were thrilled with our little girl. She didn't feed that well in her early months and the GP was a bit concerned about her weight which was "yo-yo-ing" but despite various checks with various medical professionals, nothing was pin pointed until she was 4 months old. The worst day of our lives occurred on September 22nd 2008, when we went from having a happy but skinny little girl, to having a happy, skinny little girl which a heart condition. The next day she was in emergency surgery and 2 weeks later we received the diagnosis of 22q11 deletion. There's no denying that her first year was tough on all of us (big brother Louis included), but we kept things steady thanks to the amazing help and support from Grandparents. There were numerous hospital trips, sicknesses and bugs too many to remember, nights spent coughing and vomiting.....I could go on! Alannah spent her 1st birthday in intensive care at the wonderful Brompton Hospital recovering from major heart surgery. Development was slow until she was around 3/4 years old but then we seemed to turn a corner. Nursery (with a Learning Support Assistant) did wonders for her and she moved on in her appropriate year group, to a mainstream primary school in September 2010. She has thrived at this school and has such confidence now that we would never have imagined possible. Sure, some things are still difficult for her but she has friends, she can talk, she eats, she can read, she can spell, she can add and subtract - all things that we were not sure would ever happen for her. We know that it won't always be this way and that more heart (and possibly other) surgery will be needed soon, but we are grateful every day for the way our eyes have been opened and our lives changed, since having Alannah.
I'm Elise and I was diagnosed with Deletion 22q when I was 7 months old. My first 7 months of life were difficult and I ended up being flown into St. Louis Children’s Hospital with two respiratory infections. There, a team of doctors began genetic testing and found that I had Deletion 22q and that I am the first in my family to have it. From that point on I went through a series of specialists and especially the ENT because I have frequent ear infections, ear tubes and hearing aids. I have also had my front four teeth capped, four molars capped and two of my bottom teeth pulled due to decay from asthma medicine and Deletion 22q. I am little yet determined and fearless. My therapists and teachers at daycare think I’m pretty smart for my age and I love a good challenge (child locks, unreachable places, hearing aids). My audiologist gets a kick out of the ways I can take apart hearing aids however I have to thank Mickey Mouse Club House for being my encouragement to wear my hearing aids (nicknamed my ears). I think they made a theme song just for me, “…we have ears, say cheers!” is my favorite part.
During pregnancy with our first child, we found out our son had a serious heart condition – Tetralogy of Fallot. We were told he might have 22q11 but decided not to have him tested until after he was born. Isaac arrived pink and screaming after a quick and easy labour. The baby doctors checked him over and we had blood from his umbilical cord sent for testing. He was (and still is!) perfect to us, but the test came back positive after 2 weeks. We had prepared ourselves for this and were ready for the challenges and rewards we knew he was going to bring us. Isaac had open heart surgery at 6 months old and recovered amazingly. He is now a happy 14 month old who is developmentally very close to his peers. He loves waving and clapping and just started cruising round anything he can stand against. He has poor immunity which has led to a few hospital stays with nasty infections but has always bounced back. We love him to bits and couldn’t imagine life without him!
Jonathan Christopher Adams
Jonathan (“John”) Christopher Adams is now 21 years old. He was not diagnosed with Chromosome 22q 11.2 Deletion Syndrome until about the age of 13. He also has been diagnosed with Autistic Spectrum Complex.
John will be graduating from High School in June 2012. He lives in south-central Pennsylvania in the small rural town of Richland, Lebanon County, with his parents. John's mother, Tara Myers, is a Nurse and a Parent and Child Advocate and Mentor, who is a frequent contributor to the many online support groups.
John loves music and his electronics (laptop, iPod, cell phone, CD player). He has two sisters and loves to spend time with his grandparents in a nearby county.
During his lifetime thus far, John has shown incredible talents and gifts, like writing poetry (he was published in the “Young Americans” series of books), painting and drawings, playing the piano (he taught himself to play “Fur Elise” by Beethoven in 5th grade, for a Talent Show – by heart, just from listening to the song), and singing. In 2009 John made his own professional CD, writing and composing the lyrics and music, called “Jadez Life.” He has sold numerous copies of his CD. Within this past year John has obtained his driver's license and is in an employment training program.
Parker was born in Portland, Maine in February of 2005. The first thing everyone said when they saw him was "Wow, he has the tiniest mouth I've ever seen!" Parker also had an extra toe and immediately spit and threw up out of his nose. As time goes on he has had cancerous moles removed from his scalp, faces chronic painful constipation, had multiple hernia repairs, has an enlarged aortic root, has problems with his parathyroid, and was/is late in meeting most developmental mile stones. The quantity of random symptoms didn't connect for our local pediatrician. It wasn't until Parker was 3.5 and still non-verbal that we began to feel really frustrated and concerned. He was finally diagnosed with Velopharyngeal Insufficiency (VPI). In determining treatment for his VPI, we arrived at Children's Hospital Boston. The oral surgeon immediately recommended that we see their geneticist. After meeting Parker, hearing his story and a blood test, the geneticist quickly diagnosed Parker with 22q11.2. Through the consistent specialist appointments, multiple therapies and so far six surgical procedures, he continues to grow, develop and face challenges every day. Parker loves his cat "Watson Niles Buddy" and dessert! We are thankful for access to information that allows us to prepare for what we may face in the future. We love Parker and pray that his life will be filled with countless happy memories and all the success he deserves.
Noah is five years old and one of the most amazing children I have ever met! Some of Noah's favorite things include riding his bike, swimming and playing mini golf! When I had Noah he was 7 pounds 7 ounces and healthy as could be! It was around six weeks old that Noah first got sick, and I started to question things. From that point on numerous little things started happening to Noah all of which added up to the genetic testing and discovery of the deletion when he was three and a half. I cried mostly but was also so relieved to have an answer, and something to start treating! We have been so extremely blessed although Noah faced numerous small issues like speech and being smaller than most kids his age he does not face any heart kidney or spine anomalies! We are so truly blessed to have Noah and together we are fighting to make 22q something everyone is familiar with!!!
Teddy is a typical, energetic, amazing and mighty three year old. He loves people, loves being the center of attention, and has the most contagious laugh. He was diagnosed with 22q Deletion at one week old and has a wonderful team of Doctors, Nurses, Therapists, Teachers, Grandparents, and Family behind him 110%.
We found out the day Teddy was born that he has a heart defect called Tetralogy of Fallot. (TOF) He had 2 heart surgeries called the BT Shunt and Tetralogy Repair. His pulmonary valve is still leaking at 50% and we hope he makes it to age 10 before we have to do another open heart surgery. Since 1 in 75 children born with TOF have 22q Deletion, he was automatically tested. My husband and I both tested negative and we questioned what causes 22q Deletion.
We quickly learned that 22q affects each child differently and gained hope that with the right healthcare team in place, he would overcome the many hurdles of 22q. Teddy has a team of twelve doctors and therapists. The first hurdle was to fix his heart. Once this was done, Teddy started making progress. He outgrew his severe reflux and pulled out the feeding tube. He outgrew his immune deficiency and was able to receive all of his vaccinations. (Even the live ones) He crawled late, but he walked at 18 months. He gradually started smiling, then laughing, and then making some sounds.
Teddy was very quiet as a baby and didn't start making noises until his second birthday. He is very delayed in speech, but we have been on top of it since he turned 2 with therapists and a special preschool. We are VERY fortunate for the early diagnosis and blessed with absolute top notch therapists and doctors in the St. Louis area. We are also fortunate to have a strong support group in Missouri, The Ryan Dempster Foundation, and the International 22q Foundation to educate us and allow us to advocate for our son. This support continues to bring us hope that Teddy will live a long, successful, and happy life.
Teddy will attend an early childhood special education classroom next school year. He will receive PT, OT, Speech, and Adaptive Behavior therapy. He currently attends a full day preschool where he fits right in with the typical 2 year old class. Teddy LOVES it!!!
The best advice we ever received as 22q parents was to take it one step at a time. “You have to get over the hurdle directly in front of you if you want the opportunity to attempt the next hurdle.” We have learned a lot over the last three years, met some brilliant and exceptional people, and gained a wonderful extended 22q family.
Zachary was almost 2 when diagnosed with 22q. He was constantly sick with upper respiratory illnesses and only had one functioning kidney. It wasn’t until he had a seizure that we realized his calcium was dangerously low as a result of a thyroid problem. This turned out to be the red flag that prompted the doctor to test for 22q. Zachary also had a cleft palate making it difficult for him to communicate. When Zachary was 4, he had 2 surgeries to repair the palate and this changed his life. Watching him talk to his peers for the first time after having the repairs and realizing that they could understand his speech…he lit up like a Christmas tree! These days, he is quite the social butterfly.
Zachary is a crack up! He has an amazing sense of humor and a very vibrant personality. He loves to fish, bowl and play baseball. Nothing thrills him more than getting a hit or throwing someone out on the baseball field. During our first trip to the geneticist, we were told Zachary would require his education in a contained classroom setting. They couldn’t have been more wrong. He is an avid reader and just completed the 1st grade at the top of his class! He is an achiever. He is kind and affectionate. He is a friend to everyone and lights up a room with his smile. He has absolutely enriched the lives of many!
My grandson, Zachary who is 12 is featured on the May calendar, (bottom left). He was diagnosed at the age of 1 1/2. I remember that phone call so clearly, my daughter saying, "Mom Zachary has VCFS." Even though we didn't know what the outlook would be, there was at least an answer. He has endured two operations, one a tiny hole in his heart and the other a pharyngeal flap.
There's been a few obstacles along the way, but Zachary forges ahead with his great sense of humor. He's come along way with the help of continuing speech therapy and his mother's endless patience and understanding.
Today, Zachary is a delightful young lad whose outlook on life is happy go lucky. He makes friends wherever he goes, he's active in boy scouts and is an avid Nascar fan. He enjoys playing different kinds of sports. Zachary also has a pet hampster, he named cocoa. When it comes to videogames, watch out, Zachary is a champion.
In the fall, Zachary will be starting middle school, who knows what challenges he'll be facing. Zachary has a motto "strive to do your best"
I love being Zachary's nana, he has brought so much joy into my life, an inspiration to others, a smile that warms up a room and a golden heart that can lift you up to the highest peak.
Amy was born a blue baby. She had difficulty feeding, frequent illnesses and cried with discomfort almost constantly. At 13 months, Amy had heart surgery to repair a large VSD and release a vascular ring. Her attitude and energy improved and she learned to crawl, then walk by 22 months.
Infancy through elementary school years were spent at physical and speech therapy appointments as well as pediatrician and ENT appointments for frequent illnesses especially chronic ear infections. Pharyngeal flap surgery was performed at age of 4 ½ which improved her nasality and speech. Amy also began monthly IV gamma globulin treatments to boost her immune system. She continues with these treatments to this day.
During middle school, Amy developed Hashimoto’s thyroiditis. Throughout her high school years, she cycled through hypo- and hyper- thyroid disease and its negative effects. In addition to poor health, she required support academically needing repetition and visual aids to learn material. With determination, she graduated with a regular diploma and got her driver’s license.
Amy attended community college and took classes in Office Management and Japanese. She currently does part-time data entry for her father’s company. Her hobbies include Japanese language/culture, travelling and videography. We couldn’t be more proud of her!
Bailey was born in December 2004 and came home from the hospital as a healthy little girl. At 2 weeks old her doctor heard a heart murmur during a routine office visit and we were sent to a pediatric cardiologist to make sure that nothing serious was going on. The cardiologist noticed that indeed something was wrong; Bailey had an interrupted aortic arch and a VSD. She was rushed to Phoenix Children’s Hospital.
At 3 weeks old Bailey had open heart surgery to repair her heart and she was diagnosed with 22Q11. Since then we have been on a roller coaster ride dealing with the physical and emotional challenges that 22Q presents. Bailey has battled from the start with chronic ear and sinus infections as well as hearing loss. She started speech therapy when she was 9 months old and continues to work hard on that to this date. Bailey has responded wonderfully to early intervention tackling all of her challenges with a can-do attitude and today she is a happy and spirited 7 year old, who loves school, art and playing the piano.
Cassie Lira was born September 10, 2008 as a full term healthy 6 pound 14 ounce little girl. As she got older she was not gaining weight or growing in height. She also suffered from severe constipation. At 1 year we followed up with GI clinic at Children’s Mercy. Many tests were done for Chron’s, Celiac, and Cystic Fibrosis. All Negative. She was diagnosed with Eosoniphilic Gastroenteritis. She later had bilateral tubes placed in her ears, and tonsils and adenoids removed. After surgery her hearing got better, but speech got worse. She was then diagnosed with sub-mucosal cleft palate. Prior to doing cleft surgery, she was genetically tested, and was found she had 22q11.2. She was 2.5 years old. She also has asthma and allergy concerns and will be tested further prior to her fourth birthday. She has been cleared by cardiac at this point. I plan to get further consults in both endocrinology and urology.
Cassie is doing great now. She is gaining weight and growing taller. Her main diet consists of mac and cheese and pediasure, but boy does she eat and drink a lot of it! She talks up a storm, acts likes a princess, and loves going to preschool and meeting new friends. She loves playing outside, hanging with her older brother, and picking on her little sister. She is very outgoing. Every day she changes and is growing into a very sweet little girl. I can't wait to see what new adventures she takes us on as she grows.
It was a bright, overcast, Summer day in 2011. Fearless, 33 month old Cayden David Helvey with 22q11.2 has overcome 5 surgeries. He jumped into the downtown Sanford North Carolina train park fountain with clothes and all. As a mother I watched him lick, drink, cough and jump at the water. I was worried as I thought in my head, "Oh, please don't get sick during this fun time." As his mother I know how easy it is for Cayden to get a sinus infection after swimming in the water. As Cayden was playing and having the time of his life he was splashing, kicking and running with the kids around the fountain. Cayden heard a military plane fly over his head. He is familiar with this noise since his daddy is in the Air Force and often sees the planes on base. He looked up into the sky squinting his eyes to catch a glimpse of that big plane flying by. Dripping wet with beads of water he folded his hands together as if he was praying. Come to find out, Cayden did not get sick after spending time in the town water fountain. Did he really say a prayer to not get sick or was it an angel he saw flying by? The name Cayden means "Fighter", and that is our son. We love this picture because it reminds us everyday how truly blessed we are to have him, 22q11.2 and all!
Connor was born August 18, 2010. He was left at the NICU in Orlando because he was born addicted to opiates and marijuana. While in the NICU, he was sent for a full genetic screen due to facial features when he cried. We got a phone call on September 16, 2010 and we were asked if we would be interested in adopting him. We looked up 22q and read up on it. He was born with a good heart so without hesitation, we adopted him!
He has gone through every test possible. Thankfully he has not shown any physical limitations other than delayed learning and physical growth. He is currently enrolled in Early Steps and is getting assistance with speech and all develomental skills. Connor has been a miracle to us since, as we needed him as much as he needed us. He loves animals and loves spending time with his boxer, Chowda and his two cats, Tobie and Murphy. He is such a happy boy who has helped complete our lives.
Jacob is 11 years old now and rides weekly at the Equest Center for Therapeutic Riding. He’s been gaining confidence and steadily learning new skills – learning to trot, reverse the horse, and guide his mount through complex instructions.
Jacob has ridden several of the horses at the center but especially enjoys riding with Dakota and Grizzly. He’s a familiar face at the center and always visits the barn cats before finding his horse.
Jacob loves animals and takes care of his own cat, Butterscotch, while the family dog, Sailor, loyally follows him everywhere.
Jacob was diagnosed with 22q11 deletion syndrome through a fortuitous encounter at his mother’s workplace. Renee – a Registered Nurse – had brought Jacob on an errand to the hospital. A chance encounter with a Genetics Nurse led to an immediate opinion based on symptoms and facial features which was followed up with blood tests to confirm the diagnosis. This was after many (MANY) visits to pediatricians and specialists who were unfamiliar with 22q.11 syndrome and therefore unable to provide useful direction.
At age 2 1/2 years of age I found myself, an educated early childhood professional, wondering if my son was hitting milestones as he should. Knowing that children take their own time I waited until I felt something was not right. Jerrid's teeth came in at one year old. He crawled at 18 months; he only spoke a few words by age two. Luckily, I was hooked up with an early intervention program in my state and had the best worker. She spotted things in Jerrid that were out of the norm. He wasn't speaking and had recurring ear infections, asthma, nasality, little effect, and low muscle tone. We were referred to CT. Children's Medical Center; the speech pathologist asked if I knew what Velocardiofacial Syndrome was. It was that day our lives changed. Jerrid has had many medical and dental visits. He had surgery at three for ear-tubes and at 10 for a pharyngeal-plasty and palette-lengthening. He is affected psychologically, developmentally, and socially. That hardest part of this syndrome is there are very little physical differences compared to other children. This makes my job as a mother and advocate three times as hard. He is a strong and brave boy.
When your child is born, all you can hope is that they are healthy and feel secure. Once you put them through blood tests ever few weeks and a spinal tap at just 2 months of age, you start to doubt if you are doing the right thing as a parent. After multiple remarks of hesitation, I doubted my suspicions of Jolie’s ‘condition’ in the first year of her life. Even after two years of looking over test results and cognitive/developmental delays, it still became a shock when the Genetics Specialist gave the results of the second chromosomal analysis. We were told that Jolie had 22q11.2 when she was just 2yrs old. Even though I had an answer to all the questions I had been asking myself about Jolie, I still teared up with the Genetic Specialist as she hugged me. I felt as if I had been searching for Jolie’s deletion all this time, only to find that I hoped it was just me overanalyzing again.
There are many different ways to describe my beautiful daughter; saying that Jolie has something missing is not one of them. Working with many doctors and experiencing the trials that Jolie has gone through has made us both stronger and closer as Mother and Daughter. I thank God for my precious one and we are so proud to be a part of the 22q Family.
Lilly was born 8.2.2008. We knew before birth that Lilly had 22q11.2DS but not the severity. Lilly is classed as a complete 22q11.2DS (no thymus). Lilly has had 3 heart surgeries (2 open heart), 32 surgeries and medical interventions, and many other procedures. Lilly spent her first 17 an 1/2 months in hospital and has had many admissions since coming home. Lilly had her tracheostomy removed (she has had it in since she came off ventilator) in December last year and has just improved so much. Lilly has pysio, speech and occupational therapy weekly. She has astounded doctors with her continual battle against the odds and her bright personality. She may not be able to speak yet but she lets everyone know what she wants...always with a loving cheeky nature.
On May 19th 2008 a beautiful baby girl we named Nevaeh was born. She was diagnosed with a Ventricular Septal Defect (VSD) at 2 months old. We proceeded to take Nevaeh to Miami Children's Hospital to see a cardiologist. Additional testing was performed and it was confirmed that Nevaeh did have a VSD that was very large. Her aortic arch was going to the right, which is reverse of what a normal aortic arch is, and what caused the vascular ring that she also had. The cardiologist called her condition “heart failure.” After monitoring it was determined that Nevaeh would need corrective open-heart surgery. On January 6th 2009 Nevaeh had her surgery to correct her heart defect and also remove the vascular ring around her esophagus and trachea. Her surgery went very well and we were told that Nevaeh was going to have some developmental delays due to her condition. It was not until we went back to Miami Children's Hospital for her one-year post surgery check up that her cardiologist expressed concerns with the delays in her achieving her milestones. She proceeded to review the notes of the surgeon who performed the operation and she discovered that the surgeon did mention that he had not seen evidence of a thymus gland. At this time, her cardiologist ordered a Fluorescence in Situ Hybridization (FISH) test. The results came back positive for a condition known as 22q11.2 deletion syndrome. Nevaeh is 4 years old now and is still non-verbal but reaching some milestones.