[ Post a Response | 22q Deletion Interest Board ]
Posted by Deb Chase on 5/18/2007, 10:36 pm, in reply to "new to board and c22" --Previous Message--
4.169.140.165
I am trying to think back to when my son was 3 ish. We have been told that vcfs and 22q are the same. It was also indicated by the geneticist that degeorge is also the same. They are all a deletion of 22q-11. My son had a malrotated intestine with Ladd's bands, a pseudo-coarctated aorta, a biscuspid valve (shld be tricuspid), a hole in his heart(ventricular septal defect),double hernia, undecended testicle, a very high arched palate that caused considerable feeding problems,(unable to eat solid(non-strained) food without choking until almost 3), very little connected speech until age 5, retained fluid, soaked himself 2-3 times a night, had terrible foot and leg pain 4 or 5 nights a week, all toes curled, tight heel cords, cavus foot, eye muscle coordiation problems requiring surgery(exotropia, and strabismus. He was not diagnosed until this year due to a lack of cleft palate but his fish test came back positive. DEB
: 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!
:
Message Thread:
« Back to thread