thread: Fragile X Syndrome

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  1. #1
    BellyBelly Member

    Aug 2008
    anywhere and everywhere
    718

    Not sure if you're aware but fragile x is listed in the 'better start' funding package released July 1st. Not sure how old your LO is, but a diagnosis would give you access to this funding....... 12k for use for early intervention therapies, up until their seventh birthday.

  2. #2
    BellyBelly Life Subscriber

    Jun 2008
    In snuggle land
    4,499

    If you don't want to put your son through testing, then you could get tested yourself to check if you're a carrier. It's about $100-200 from memory. If you're not a carrier, your children wont be affected. If you are a carrier, then you can test your DH for carrier status or just test your DS. It's worth knowing if you're planning to have more children.

    It might be better to talk to a paed or a genetic counsellor at a children's hospital. There may be ways to have the test done more cheaply. If you just test your DS and it's positive, then you are both carriers and have a 1 in 4 chance of passing it on.

  3. #3
    Registered User

    Oct 2007
    Middle Victoria
    8,924

    Fragile X is carried on the X chromosome, so the calculations are a bit different to a condition carried on one of the autosomes (non-sex chromosomes e.g.X or Y).

    Fragile X is also a bit different cos the chance of having the condition, and the severity of it, increases over generations. This is due the gene getting bigger when it is passed from mum to child in carrier families. When the gene gets beyond a certain size, symptoms of the condition occur. The gene can be passed on by dads but doesn't usually expand when being passed from dad to child.

    However, Tashybabe is right in saying the mum could be tested to see if she was at risk of passing on a large gene. If her gene is normal size, then it won't expand to affected size in one generation and therefore fragile x would not be likely in the children.

  4. #4
    BellyBelly Life Subscriber

    Jun 2008
    In snuggle land
    4,499

    Sorry. I didnt realise it wasnt autosomal. They're what I've been researching so just assumed it was the same. Didnt mean to give the wrong advice.