Undiagnosed and rare conditions
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Rare chromosome disorder

anyone have a child with a rare chromosome disorder?


  • Ami2301Ami2301 Community Co-Production Group Posts: 7,625 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: 7,625 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: 8,556 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: 7,968

    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
  • 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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