My oldest son was born with a bilateral cleft lip and palate and a congenital heart defect (atrial septal defect and PDA). We later learned that he has a spinal defect (his C1-C4 vertebrae are fused and some of them may be deformed). Along with that he has had developmental delay and speech delay more pronounced than what should be explained with a cleft. He is also extremely small. At 6 years old he is 39 inches tall and 35 lbs. We just got the go ahead to do genetic testing and will be doing that in about two weeks. It will be interesting to see the results and maybe finally have some answers. Thank you for this information! I have been devouring all info. I can find up until now about what syndrome etc. he may have!
Posted by
on May. 31, 2007 at 11:24 PM
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on Jun. 20, 2007 at 11:56 AM
About a week ago I found out my son had Smith-Magenis Syndrome. It sounds a lot like the 22q11 deletion. With SMS it's chromosome 17 that is infected. It's the deletion of the short (p) arm in 17. It's new to me and I still don't know all about it but if you ever need to talk with someone about it I'm here to listen. We start our genetic testing in about two weeks. They want to make sure there isn't some thing else because of all the behavior he shows. He show all the symptoms related to SMS as well as many "autistic like" behavior. You and your family are in my prayers.
by
on Jun. 20, 2007 at 12:49 PM
Your sons are cuties. I agree that is does sound like 22q...VCFS....DiGeorge syndrome(whichever you choose to call it)...we call it DiGeorge syndrome...which is what my son has. There are alot of syndromes that are so similar though, but it is an idea to check that one out. Im so jealous you got to go see Thomas...I wanted to go last year for the 60th birthday...but my son was in the hospital, again. Maybe itll come arround again this year, if we havent already missed it...he seems to be in the hospital every March.
Take care,
Cathy
Take care,
Cathy
by
New Member
on Dec. 17, 2007 at 12:00 AM
Oh that's interesting. Aiden's birthday is in March too! March 15th no less! "The Ides of March" LOL
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update on candace
- Mom_2_Boyz
on May. 31, 2007 at 11:24 PM