[ Post a Response | 22q Deletion Interest Board ]
Posted by Amy in MI on 4/13/2006, 7:45 am, in reply to "Re: daughter with 22q13.3 del." I hope someone who's child has the same diagnosis replys to Jeff's post. Jeff, Even tho our children's deletions may be a bit different, I bet as parents, everyone on the board has some things in common. Like the knot in your stomach when you hear that something is wrong with your precious child, and wanting to know what that means for their future, and then watching things unfold and wishing you could just fix everything for them. Ellie's lucky to have such proactive parents. You guys are getting on this really quickly. I'm curious what sort of research you've done so far and what you've found out about 22q.13.3? I know, like Mark - and probably others on the board, I'm not as well versed on that as I could be. All the best. --Previous Message--
64.108.150.55
Hey Mark,
Thanks for pointing that out (difference in deletions...) I meant to but missed it.
I don't know if, in your research, you've come across the Children's Hospital of Philedelphia (CHOP) They have a multi-disciplinary clinic devoted to children with 22q deletion. I have to belive that with the hundreds of kids they see, they're well versed in all forms of the deletion. They could probably tell you alot - and probably compare and contrast 22q.11.2 and 22q.13.3 I don't know where you live, but even if you can't make a trip to PA, you could call and talk with them.
While you can't stop whatever health issues she might face, I bet you and your wife will be wonderful at helping her through whatever comes her way.
amy
: Hey Guys!
: I don't want to seem like I am
: correcting you Amy but I wanted to
: be sure that Jeff and others noticed
: that your child and Jeff's child may
: have different syndromes (Assuming
: that your child is 22q11.2 because
: you weren't 100% sure). I only know
: what this site says about 22q13.3
: deletion. I am a lot more familiar
: with 22q11.2.
:
: Just be aware that 22q11.2 and
: 22q13.3 are slightly different
: genetic deletions. Patients with
: each syndrome have some similar
: findings but also have a few things
: that are different. I don't know
: very much about 22q13 but by looking
: at the list of findings on this
: site, I can see a few differences.
: For example, according to the list,
: heart defects are not a common
: finding with 22q13.3, but they are
: very, very common with 22q11.2.
:
: Feel free to email with any
: questions and I'll try my best to
: help.
:
: Thanks,
: Mark
: mjthomps@hotmail.com
:
:
:
:
: --Previous Message--
: Hi Jeff,
:
: My daughter Laura was diagnosed with
: 22q deletion (I'm guessing it was
: probably 22q.11 - the Dr. never told
: us.) when she was 15-weeks old.
: She's 8 now and I can tell you there
: is hope!
:
: Laura has needed heart surgery (to
: repair a VSD) , surgical repair to a
: couple of inguinal hernias, and
: dental surgery. As far as
: learning, she's doing OK - but this
: year for the first time (2nd grade)
: , we're enrolling her in special
: education.
:
: Although she struggles -
: particularly with math and other
: more abstract concepts, she's way
: beyond a 2-year old learning level.
: I don't think she's that unusual,
: although I can't really tell you
: what's "typical" _ (except
: for the broad fact that the vast
: majority of these kids will have
: learning challenges)
:
: Also on a side note, I would
: recommend that you pay very close
: attention to Ellie's teeth. Laura
: needed some teeth extracted due to
: decay when she was only 2 1/2 years
: old. We treated her the same as our
: other four children and they all
: (still) have nearly perfect teeth.
: Afterwards, I questioned a
: geneticist and she said that -
: although they don't know exactly
: why, many children with genetic
: disorders also have dental problems.
: That was one of those: "I
: wish someone had told me"
: issues, so I thought I'd mention it.
:
: If you or your wife feel like
: chatting, please feel free to reply
: or you can e-mail me directly by
: clicking on my name-link at the top.
: Also, Mark on the board is willing
: research answers for people. He has
: a special interest in immune issues.
:
: Unfortunately, the board has been a
: bit quiet lately - I hope people are
: still visiting. I wish they'd talk!
: But there are still some of us, and
: we're all in the same boat - just
: looking for support and trying to do
: the best for our kids.
: Good luck, and post again
: amy
:
:
: --Previous Message--
: Hello, are 1 year old daughter Ellie
: was just diagnosed with 22q13.3
: deletion. My wife and I have been
: on the internet, and are overwelmed
: with the amount of information.
: However, we don't know what may
: really apply to our daughter. We
: understand that all children develop
: different, and only time will tell
: what lies ahead for us. Some of the
: information we are reading is very
: tough to take, and we would really
: like to talk to someone that is
: experiencing the same thing. I have
: read on the internet that most
: children never get past a 2 year old
: learning level?? We have Ellie in
: physical/speech/swimming therapy
: weekly, are there any other
: suggestions? What does the future
: look like? Thank you - Jeff
:
:
:
:
:
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