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Fragile X Syndrome

ccoslopccoslop member
in High-Risk Pregnancy
Hi everyone. I'm sure that many of you may not know what Fragile X syndrome is, but it is one of the leading causes for mental retardation and other physical and cognitive issues due to a problem with the X chromosome. I was wondering if anyone on here is a carrier or has a child effected by it? I am a carrier and after miscarrying at 20 weeks a few years ago, I am once again pregnant... And extremely anxious. I go for a CVS this month, but I was wondering if maybe someone in here has or is also going through this?
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Re: Fragile X Syndrome

  • Gamera3000Gamera3000 member
    I have no experience with Fragile X, but I have spinocerebellar ataxia (dominant) and I know people with Friedreichs ataxia (recessive). These are often considered "cousin" diseases to Fragile X. No retardation risk but physical and cognitive problems with a shortened lifespan. I don't know if my unborn son has my disease. However, since I have it myself it's not a big deal to me. But I have a disabled family culture so I think I see it differently than most.

    Have you had genetic counseling yet? It might help clarify your thoughts and feelings before the test. There should also be online communities for Fragile X so you can get an idea of what it's actually like living with it or raising a child with it.

    Try not to be too stressed out. After you get tested your feelings will show you what's right for you. :)
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