You are not alone! Below are stories you have shared with us. These stories will help you gain an understanding and shed light on some of the milestones, setbacks, and steps of dealing with the disorder. Each story is as unique as the person the story is about. Together the stories help us learn about our community. Do you have information you'd like to share about a child or adult with a 22q11.2? In a few weeks we will have an online submission form for you to share your story on the website and our annual calendar.
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 […]
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 […]
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 […]
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, […]
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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
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 and 1/2 months in hospital and has […]
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 […]
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 […]
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 […]
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 […]
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 […]
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 […]
