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TOPIC TITLE: Genetic disease
Created On 1/19/05 11:01 PM
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mommy
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1/19/05 11:01 PM
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Hi.. Im a young mother of two daughters with severe developmental delays. we have seen a genetic doctor and a whole workup was done on our children but they couldnt find an answer why this has happened. anyone out there who could be of any help please reply...Thank You


Edited: 1/19/05 at 11:10 PM by mommy
 
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bmr
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1/20/05 3:45 PM
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My understanding is that a diagnosis might eventually be found because, based on the symptoms your children have (how their disability manifests itself), the right doctor might eventually do the right testing(metabolic, chromosomal,etc., etc.) I'm sure your doctors have put you thru the whole business. Just as a shot in the dark, though - because you never know when matching your children's condition with someone else who is experiencing something similar in their children might just lead you to some answers - have you tried contacting MUMS (netnet.net/mums/). They have a huge database of rare disorders. You never know...Or perhaps there's even a "match" out there in the frum community. Do you want to share anything about the kids' disability? I know the lack of a diagnosis probably is the hardest thing, maybe making you feel a bit isolated even within the "disability community"...
Hatzlacha...
 
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g
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1/20/05 8:01 PM
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I have a child with developmental delays, who has been through a quite thorough gamut of tests to try to determine what is causing the various issues. At this point, we've been to over a dozen drs. of different specialties, who have done many tests, including 3 geneticists. As the most recent geneticist explained it to us, over the course of the past few years, we've had done the "level 1.0" tests, and even the "2.0". She sent us for the "3.0", which is the most sophisticated level they have available clinically; through research, even 4.0 is available, which we did at no cost to us, since it's only in the research stage. They can see the chromosomes, which look normal, and the tips of the chromosomes, which are also okay, and now are studying the tips of the tips, etc.-- on a very refined, sophisticated level. Because there are so many tens of thousands of genes, most (less common) genetic disorders have not been discovered. However, just a few years ago, the Fragile X gene was discovered-- likewise, many other gen. disorders are being discovered as they are becoming able to isolate the problematic gene. It's very difficult (to say the least!) to wait for something to come up, yet I take comfort in knowing that we're doing all we can, and it may yet be found very soon.
 
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mommy
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1/20/05 8:39 PM
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By the time I was aware that my older child has a problem I was pregnent with my second one. At that point doctors explained me that sometimes accidents happen, and since we didnt find a genetic explanation he ensured me that there is a very small chance for this to repeat itself on my second child. but if something happens twice an accident is not an accepted answer. I am desperate to find something so i can at least expect a future.
 
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momofds
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2/9/05 12:57 AM
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Do you know if the doctors checked for Fragile X? I know of two families with kids with Fragile X - describing developmental delays as their initial concern... Are there any other issues that the children face medically - like seizures...?
 
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2537
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2/9/05 2:25 PM
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if you are writing about fragile x is there any yiddishe support group for parents? i have never met any yiddishe child with this syndrome even this site has no information about it.


Edited: 2/23/05 at 1:59 PM by 2537
 
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bmr
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2/9/05 3:49 PM
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There certainly are frum kids with Fragile X out there. Go to spiritmag.org to try to access the Fall 2004 edition of the magazine which featured a father writing about his sons with Fragile X.
 
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Ray
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2/9/05 4:20 PM
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Does any of this have to with the Dor Yeshorim testing??
 
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ImaD
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2/11/05 9:40 AM
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Dor Yesharim has standard testing, which incluse Tay Sachs, FD, CF, and possibly one or two others-don't recall off hand. If you have particular concerns, they have more sophisticated tests for other things - call their office and they will give you an extensive list. B'hatzlacha
 
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sss58
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2/14/05 12:58 PM
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dor yesharim does not generally test for fragile x. i'm not sure if they ever do but fragile x is a genetic disorder that only has to be passed down through one parent. there are ways to prevent it, but they are not as simple... i have looked into this area extensively and know a lot about it and where to find out information if anyone is interested. it is really too involved to write it all up here, but I am very willing and happy to help if anyone is interested.
 
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hershel
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2/15/05 10:58 AM
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Ask Rabbi A Jacobowits from Bikur Cholim he might know if there is a support gruop for fragile X his number is 718 387 8523
 
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chanieF
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2/28/05 12:53 AM
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Quote

Originally posted by: sss58
dor yesharim does not generally test for fragile x. i'm not sure if they ever do but fragile x is a genetic disorder that only has to be passed down through one parent. there are ways to prevent it, but they are not as simple... i have looked into this area extensively and know a lot about it and where to find out information if anyone is interested. it is really too involved to write it all up here, but I am very willing and happy to help if anyone is interested.


i'm sure there's more info to be shared, but here's part of it...

fragile-X is a chromosomal abnormality. however....
The discovery of Fragile-X was accidental. Researchers in Australia were performing chromosomal studies on residents in a MR facility. They were using a new medium which was low in folic acid. They found that a # of the residents, all men, had a previously unrecognized abnormality of the X chromosome. (The bottom tip of the X chromosome was pinched off, appearing fragile.) When these cells were grown in media with folic acid supplement, the abnormality disappeared.
Once identified, it became clear that men with Fragile-X had a remarkably similar appearance (elongated faces, prominent jaw and long ears, poor coordination, hyperextensible joints and hypotonia etc.)
10% of all males with mental retardation have Fragile-X. It is second only to Down Syndrome as the single most commonly identifiable cause of MR.

 
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froggy4
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9/6/07 12:04 AM
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a/o here a carrier of fragile-x and have done ivf with pgd? or planning on doing it?


-------------------------
froggy4
 
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