Undiagnosed and rare conditions
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Rare chromosome disorder

anyone have a child with a rare chromosome disorder?

Replies

  • Ami2301Ami2301 Community Co-Production Group Posts: 7,645 Disability Gamechanger
    Hi @Lilly23 and welcome to the community! Is there a specific disorder that you are looking for? This will help us to narrow down the search for other members who have, or their child, a rare chromosome Disorder. Have you heard of UNIQUE? They are a UK based charity for rare chromosome disorders :)
    Disability Gamechanger - 2019
  • Lilly23Lilly23 Member Posts: 2 Listener
    It’s a microdeletion of a chromosome 2p16.3 basically the arm missing off the chromosome and I know all about unique but not found them to be of much use to be honest 
  • Ami2301Ami2301 Community Co-Production Group Posts: 7,645 Disability Gamechanger
    Sorry to hear that. I've managed to find another member, who's child has a different type of the rare chromosome Disorder. Is it support groups you would like to be directed too or do you have any further questions? :)
    Disability Gamechanger - 2019
  • chiariedschiarieds Community Co-Production Group Posts: 8,654 Disability Gamechanger
    edited October 2019
    Hi @Lilly23 I tried Contact (used to be known as Contact A Family) which I hoped may be able to help: https://www.contact.org.uk/ but sadly that also lead to Unique.

    Might I suggest, that as Scope is a much bigger community, you might perhaps say what problems you're facing; the age of your child, & what difficulties they might have. You might not 'meet' a parent with a child like yours, but you might meet someone experiencing similar problems for a different reason.....it might be hypotonia (floppiness), delayed speech, learning difficulties, behavioural problems, etc.

    This is a very supportive community & I hope you'll just jump in to see if any others might help.



  • Adrian_ScopeAdrian_Scope Testing team Posts: 7,970

    Scope community team

    Hello @Lilly23 and welcome to the community. Our members come from a diverse range of backgrounds, but we'll be more than happy to support you in whatever way we can. What sort of support is it you're looking for?
    Senior Community Partner
    Scope
  • hjcespanahjcespana Member Posts: 6 Listener
    Hi - my son has Klinefelters Syndrome which is not the rarest of chromosomal disorders but feels rare enough to us !

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