[ Post a Response | 22q Deletion Interest Board ]
Posted by annalene on 6/14/2007, 12:20 pm, in reply to "new to board and c22" --Previous Message--
217.41.217.19
hi my name is annalene, my son marcus is 6 years old and was diagnosed with 22q11.2deletion syndrome feb2006 my son marcus has learnind difficulties,speech delay,hes recently had an operation on his palate, when marcus was diagnosed his genetics doctor had very little information to give, so i went online and searched for ages could not get mich more than the doctor give me though the doctor sent me information on a conference that was coming up in dublin relating to 22q11.2 deletion syndrome which is also known as di george syndrome which is the way i like to use it,my son and i attened the conferance it was so i opening there was parents with younge children with the deletion and teenagers with the delation who spoke to everyone about there life growing up it was wonderful, i got so much information there,it was really good seening other children and teenagers with the deletion and how they were going through life. marcus is on waiting list to get kidney tests and behaviour referrals just to rule things out.
: 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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