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Carter was born on July 13, 2016 after a pretty scary pregnancy. I had a subchrionic bleed at 8 weeks and a partial placental abruption at 29 weeks but thankfully he made it full term. At my 20 week ultrasound his kidneys were found to be dilated as well. I went to regular appointments and after he was born he had some tests done which didn’t show anything too alarming- just something to monitor with pretty regular renal ultrasounds.
As soon as the nurse did Carter’s footprints she said, “I don’t want you to think he doesn’t have all of his toes- he does but they are overlapping and don’t show on his footprint!” (I’ll always love those little overlapping toes) Pretty soon after birth he also started spitting up most of his formula out of his nose. He was checked for pyloric stenosis twice but it was eventually just chalked up to GERD and that issue seemed to be dismissed by the doctors for the most part. He was also a “noisy breather” which was later diagnosed as Laryngomalacia by a Pulmonologist who simply listened to him breathe and told us he would grow out of it. Around 6 months he was diagnosed as “failure to thrive” because he just couldn’t keep weight on. We were seen by a GI doctor who put him on Duocal, a calorie booster, which helped him gain weight and we were pretty quickly dismissed by that doctor, too. Unfortunately, that happened a lot during our journey of “trying to figure him out”. All of his seemingly “small” issues were just dismissed but I knew it my heart there was something else going on. So many doctors saw him and addressed his individual issues but no one ever looked at him as a “whole person”.
In April of 2018 I started doing my own research after Carter wasn’t meeting some developmental milestones. I just knew there was an answer out there that everyone was missing and after a few weeks I stumbled upon 22q. That night my heart broke a little because I knew this is what he had and I was unsure of what it really meant for his future. I brought up my concerns to our pediatrician who quickly said, “oh no your son doesn’t have that- children affected by that have heart disease and a cleft palate”. Although he didn’t think I was right, he did send us to CHOP to have him re-evaluated for his GI issues. We were seen by a team of doctors that looked over his history and gave him a physical but were no longer concerned with his current GI related issues. They did refer us to Genetics but we had to wait 6 months for this appointment. I knew we were finally going to be in the right hands though and this gave me hope.
On December 10, 2018 Carter was diagnosed with 22q and we were seen the very next day by the amazing “22q and You” center at CHOP. We are still in the process of having his many appointments scheduled to have him fully evaluated but if there is any advice I could give, it is to always follow your gut, even when doctors may dismiss your concerns. We are our children’s only voice, their only advocate, so if you ever feel that your child isn’t getting the attention they deserve- keep pushing forward.
Although our journey with 22q has just begun, I am thankful that we have an answer now and have every hope for the best future for our little boy now that we are in the hands of the “22q and You” Center. It is so nice to have been welcomed into the “22q Family Foundation” as well. It is comforting to be able to relate and share stories with other families that are on the same journey as us.
((Carter is also the second of 3 children. He has a 4 year old brother and an 11 month old sister. He is the sweetest little boy with a heart of gold. Nothing EVER holds him back and he is a light in everyone’s life that knows him. Although this diagnosis may not be what we wanted for him, we wouldn’t change one thing about Carter- he is beyond special and fills our life with silliness, sweetness, and the best kind of love ))