[ Post a Response | 22q Deletion Interest Board ]
Posted by Spring on 4/9/2007, 2:19 pm, in reply to "Re: daughter with 22q13.3 del."
74.37.162.100
I just found this board, as I am researching the chance my son may have 22q 13.3 deletion. He is listed as an unknown syndrome. What we do know though is quite a lot. He has a small corpus callosum, he is hypotonic, dx CP, he is autistic like, mild impairment, he had cortical visual impairment, he had an undecended testicle, he has a small head and cross eyes, he is very tall and very thin, he was failure to thrive, and choked a lot. He struggles with abstract. He is delayed in all areas and loves music, he has a great memmory. He has a low nasal bridge and a high pallet. He does not sweat in the day but every time he falls asleep he sweats a lot! His ears are low and floppy and constipation is a problem. He had RSV and asthma. We are a member of a list for the corpus callosum but I have become more dedicated to finding his syndrome. Maybe so people will stop asking if I drank durring pregnancy. I know that knowing the syndrome will not make him better but I still want to know why? Does this sound familiar to any one on this board?
--Previous Message--
: Hey Mark,
: Thanks for pointing that out
: (difference in deletions...) I meant
: to but missed it.
:
: I hope someone who's child has the
: same diagnosis replys to Jeff's
: post.
:
: Jeff,
: 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.
:
: 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.
: 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.
:
: 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.
: amy
:
:
:
: --Previous Message--
: 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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