Our baby Charley was born on February 12th, 2014, at about a week old we noticed to had some noisy breathing which the doctors dismissed as any problem. She also had a sacral dimple at birth which was also deemed normal. After being home for about 2 months we noticed she hadn't went up in her feeding amount or gained any weight. We presented this to a new pediatrician and he immediately admitted her to the hospital for more testing. After spending a couple nights in the local hospital she had a scope done to see if she had an obstruction in her airway. After that test she really went downhill and the doctor decided to give her a helicopter ride to St Louis Children's Hospital. We spent almost a month there with MRI's Ultrasounds, Echos, CT scans, Upper GI, put to sleep for a scope of her airway, and several other things. None of these tests came back severe enough to explain why she wasn't gaining weight. She was diagnosed with laryngomalacia and was gonna be sent home with a G tube which she was getting the surgery for in a couple days. The last Monday we were there they decided to do a swallow study and found an anomaly of her arch of her heart. From there it was later confirmed she had a vascular ring compressing her airway and esophagus together which explained her noisy breathing and failure to feed. She was scheduled for surgery that Friday to remove the ring and re implant a subclavian artery. After about a week of recovery we were sent home with an ng tube in hopes that she would pick up on feeding and get to normal. About 2 weeks later we got the dreaded call from genetics that they had found a deletion in chromosome 22. There are several names for this syndrome, Catch 22, Digeorge Syndrome, 22q11.2 deletion (our docs use this one most), Velocardiofacial Syndrome, and a few others. We are completely new to any genetic disorders so welcome to our page and we can learn more about our sweet baby Charley together. If you would like to donate to Charley's medical expenses here is the link
http://www.gofundme.com/dy2zzc
