[ Post a Response | 22q Deletion Interest Board ]
Posted by Karen
on 7/30/2009, 10:54 pm, in reply to "22q11.2 distal deletion"
71.246.238.160
Our oldest son was recently diagnosed with a 22q11.21 deletion. We were also told that there is very little literature available regarding these distal deletions. Our son is 6 and overall is doing very well. He had a small VSD at birth which spontaneously closed. He also had chordee and a preauricular tag. The chordee was repaired when he was about a year old. He was recently diagnosed with ADD and we are considering starting a trial of medication to see if it helps him. Other than that he has had no ongoing medical problems. He is somewhat developmentally delayed and has received OT, PT, and speech therapy since he was about 3. Actually they discontinued the OT about a year ago because he had caught up significantly. He just finished his Kindergarten year in a regular class and did very well academically. He also participates in Karate and has played baseball for several seasons. Socially, he has a little difficulty interacting with his peers at times, but we think at least some of that may be related to the ADD.
My husband and I both tested negative for the deletion. We also have a 4 year old daughter who has showed no medical or developmental problems.
We would really be interested to hear from other families with children who have this microdeletion, especially those with older children who may have some insight on what to expect.
--Previous Message--
: I have an 11 month old son that was
: diagnosed with a 22q11.2 distal
: deletion today. The doctor said
: there are only 6 documented cases in
: the world. I am looking for any
: information I can find regarding
: this condition. My two other
: children are now being tested. My
: oldest also has Pierre-Robin
: Sequence.
: I know how important it was to find
: other families dealing with the same
: thing when we first found out about
: her PRS. I would like to talk to
: other families whose child has a
: 22q11.2 distal deletion.
:
: Thanks,
: Kristy
:
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