Undiagnosed and rare conditions
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Net84Net84 Member Posts: 1 Listener
Hi everyone, my name is Lynette, I'm from North London, I have a 7 year old who up until 2 weeks ago didn't have a diagnosis, she has since been diagnosed with a rare condition called kif1a, Lexi is unable to stand or walk due to lone tone, has severe c.v i, global developmental delay, and epilepsy you can find more information about this condition at kif1a.org we have learn it's a neurodegenerative condition and children have passed away very early in their lives. Im still very much in shock with this long awaited diagnosis and would like to connect with other local families to simply have a chat, or receive any advice. Kif1a is only a recently discovered (since 2011) genetic mutation and so far only approximately 30 children worldwide have been diagnosed, we are the 3rd family in the uk, which such a small number it has felt incredable isolating so I would love to make contact with other families more locally. Also any advice on fundraising or raising awareness of kif1a would be appreciated. Thank you ☺❤


  • Sam_AlumniSam_Alumni Scope alumni Posts: 7,729 Disability Gamechanger
    Hi @Net84 welcome to the community.

    It can be a massive shock to get a diagnosis and it does take time to get used to this whole new world. 

    Take a look at the Parents and Carers category where you can chat to lots of other mums, dads and carers who have disabled children, it can be really helpful to just be able to chat with other people who are going through similar things to you.

    You could also look at the Rare Conditions category.

    We also have lots of information here for families with a recently diagnosed disabled child that might be good to look through.

    Also we have Connect Families, it is a free online befriending service connecting parents of disabled children. If you are a parent of a disabled child, sometimes it can help to talk to another parent who knows what you are going through and shares your experiences.  You can access this service through filling in this referral form.

    Senior online community officer
  • SophieAL_131SophieAL_131 Member Posts: 1 Listener
    Dear Lynette, I don't know whether you will still be on this forum but our son - who is 7 - has also just been diagnosed with KIF1A as well. We are only just getting to grips with what this means but I'd welcome any discussion with you. We've only found other children online in the US until now. 

    I hope we can connect. And I hope that your son is doing ok.

    very best, Sophie
  • Adrian_ScopeAdrian_Scope Testing team Posts: 7,998

    Scope community team

    A warm welcome to the community @SophieAL_131. If it's of interest to you, our free Navigate service supports parents of children who have been diagnosed within the past year. I hope you'll be able to find some support here, even if you're not able to make contact with @Net84.
    Senior Community Partner
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