looking for answers

[Princess1772476]

ok so i found this group and thawt i'd post b/c about 6 mos ago I recieved a letter in the mail just informing me about 22q deletion and it really caught my eye. I'm not sure if my son has it but we can't seem to put r finger on what it might be. He was born with pierre robin syndrome (cleft palate and resessed chin) his case is very minute. He doesn't have much trouble breathing other than when he is down under anastesia for surgery's. We have had one repair and will have another one this coming yr. he's still has two small holes. so that's one thing he does have going on. Another is he has a developmental delay.  we already knew he had small brainstem but have recently been informed his cerebellum is small also. so they told us we would just have to watch his development and see more or less how it goes. this frustrates us just b/c we would like to know what to expect but we understand at the same time. He is 18mos and just now sitting up and this past wk. has tried to crawl. He hasn't passed a hearing screening yet. we know he can hear he passed in one ear. They have told us they think he will not pass until his pallet is completely repaired. so we will see on that. scoliosis runs in the family and he has a curviture in his spine so they did an xray and it came back ok. They seem to think it's just do to the low muscle tone he has and so he's not using those muscles. they said they think it will straighten as he gets more active. I prob. didn't word everything in this post correctly or as easily as I shud but I did my best. I was just wondering what do u think and wat ur opinion may b. thank you very much for you time and concerns.

[jordansmom4life]

hello,

have they genetically tested for 22q11 deletion, better known as velio cardio facial syndrom or digeorge. If they havent, you should request that they check him genetically. there you would have your answer right away. there are some symptoms that u spoke about that sound like digeorge but of course i am not a doctor. he really needs to be genetically tested for it. i do reccommend www.vcfsef.org as a informtional website about VCFS. try it out! if you have any more questions, concerns or just wanna talk feel free.

Sarah