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Posted by Caron on 4/29/2007, 4:47 pm
141.154.161.214
Hi, My name is Caron, I have a 3 year old named Drayke who was recently diagnosed with DiGeorge Syndrome. I saw a piece on Chromosome 22 Deletion on Dateline (or a similar show, can't remember now) about two years ago, and started asking his doctors and EI therapists about it. Drayke was born with Tetrology of Fallot, a submucous cleft palate, micrognathia (mild), an extra thumb, and various other little "abnormalities" such as fused tendons in his thumb, spinal "dimple", undescended testicles, and some toes are a little crooked. He looks like a normal boy, which can actually be hard sometimes, because I get told that he is a brat and a problem child due to his behavior. His FISH test came back negative, but he was given a clinical diagnosis of DiGeorge, and I was wondering if anyone has had any experience with this? I am still confused about the differences between Chromosome 22 deletion and DiGeorge, and VCFS. Are the latter two types of C22 deletion? I just last week met with the new geneticist at Baystate Hospital here in Springfield, MA, and she confirmed the diagnosis, as well as suggesting that Drayke see a pediatric psychiatrist and autism specialist. The possibility of Autism has come up before, I suppose I dismissed it because he is such an affectionate and social child, but after doing more research I realize there is such a broad range of severity that I would rather be sure it can be ruled out. I have so many questions, I hope I am not writing too much, but for now, I just wanted to introduce myself and get any suggestions of what my next steps should be. Thank you!
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