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My youngest had genetic testing done recently; we found out she has a chromosome deletion. We are going to take part in a study that is going on for this particular deletion. It is nothing that is very serious; as far as we know! We are very thankful for that! So my question is; she needs speech therapy and I am wondering if a chromosome deletion is an automatic qualifier? As of right now I don't believe there is a specific syndrome named with this deletion.
There is no such thing as an automatic qualifier. The child still needs to be impaired to qualify. You can use other health impaired and I beleive you need less of a delay to qualify for services (like 25% versus 50%).
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I can tell you that there might not be an 'automatci qualifier', but it's very likely your child will qualify with a chromosome disorder. Additionally, if your child's condition showed up on a regular chromsome panel of tests, it's likely your child *will* be affected in at least a few ways. If your child is showing signs of needing therpies now, it's unlikely her speech will improve on its own.
We were told that nowadays, newer-found chromosome disorders don't often have 'layman's terms' anymore. They're known by where the deletion or duplication is....such as 1p36 duplication or 2q11 deletion, etc. It isn't always easy to understand, but vital to know whether it's a *P* or a *Q* and the chromosome number.
Have you checked out the Unique chromsome disorder website that's located out of the UK? IMO, it's by far the best website (and FB support pages) in the world. They have professionals on board as well as keep an ongoing list of individuals and how they change and grow throughout the years. They also publish and make available free brochures about MANY chromosome disorders, what to look out for, how each and every child will vary from the other even though their chromosome deletions/duplications are the same.
Please feel free to pm me if you'd like. Our family had to learn a lot after receiving the news of our child; but knowing we're not alone has been such a help!
Most Sincerely,
Linny
The chromosome that is missing is believed to only effect beginning speech development. The genetics doc who is doing the doing all the research has not found any long term effects, if there no other medical situations going on.
She has had a brain MRI and it was normal. She does have some muscle tone issues, but that seems to be a seperate issue.
I was told that there were automatic qualifiers like if a child has spina bifida, etc.
Linny,
Thanks so much for suggesting this site! I have spent months trying to find out what my children's chromosome gains/losses (duplications/deletions?) mean, but have had no luck.
In the "Interpretation" part of our writeup the geneticist says: "Although the clinical significance of these are not known, it is likely that they are benign changes." And then went on to say that "NRP1" (related to the loss/deletion at 10p11.22) has a roll in cell survival, invasion, etc. (suggestion it could have caused a problem in utero with my child's brain development?)
So I went to "Karotype Database" on the site you suggested, hoping I could enter the exact gene thing, but it would only let me enter the "chromosome" number (ex: 10) and the arm ("p"), but not the numbers that follow (11.22).
Do you know how I can search this site for a specific LOSS/DELETION (2,800bp) "involving NRP1 at 10p11.22"?
Man, this is confusing! Please pm me if that's easier, though I think alot of families are seeking chromosome testing nowadays, so it might be helpful to everyone.
:thanks:
P.S. Our geneticist told us just to hang onto the "chromanalysis" write up, because even though it is unknown at this time what clinical significance (actual, observed problems in the child) these gains/losses mean, research could eventually explain what problems they cause and help us understand the WHYs of some of our daughter's learning/processing issues.
EtA: ShyBear, Our daughter was able to "keep" her IEP under the heading "Other Health Impaired" (for ADHD) even though her IQ seemed to raise 12 points after started her on a stimulant for the ADHD. She had been receiving speech/language and math pullout due to lower IQ (a wide enough gap between ability and achievement), but the med drew those numbers within 10 points, making her ineligible for special ed services. (Because now she was in the "low ave." IQ range). HOWEVER, her special ed teacher knew she'd fail if put in regular classroom all day, so she pushed to retitle her IEP as "other health impaired" just for the ADHD and maintained the pullout sessions so she could help my kiddo one-on-one. :-)
AND...you can also have a "section 504" (If I remember correctly) made (if she doesn't qualify for IEP) just for a particular issue (like behavior. YOu can make a "behavior plan" that prevents your child from being punished based on med/psych-diagnosed symptoms/behaviors).
Here's some info from Unique. While the brochure doesn't give a lot of info about your child's specific deletion point, it DOES give a lot of info about children with 10p deletions. I think you'll still find it very interesting!
[url=http://www.rarechromo.org/forum/DisordersLeaflets.asp]Unique Members Area[/url]
Drop down to the 10p deletions and you can download the entire brochure.
Keep in mind that even when two kids have the exact same deletions or duplications, they still can differ GREATLY in their abilities, challenges. This stuff amazes me still!
HTH.....please feel free to pm me. The fb pages have been very helpful too!
Consider joining Unique......it's free to join and very, very helpful and supportive!
Sincerely,
Linny
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