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  1. #1
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    Default Coffin-Siris syndrome

    I know this is a massive long shot, but are their any families on here dealing with a diagnosis of Coffin-Siris syndrome?

  2. #2
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    Bumping for the morning crowd for you.

    I don't know about this one, but there are a lot of parents on here with children with genetic syndromes who can probably help with advice and support.

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    Hi @PatchOfEden
    I don't know anything about Coffin siris syndrome.
    But my daughter has a rare genetic syndrome called Smith-Lemli-Optiz syndrome. A quick Google tells me that there are similarities with developmental delays and small stature. And issues with fingers/toes.
    My daughter is 2 and a half now.
    I can definitely be a listening ear if you are needing one.

  4. #4
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    Thanks Tamtam, I just had a google of Smith-Lemli-Optiz. There are quite a few similarities.

    Miss 8 is currently still undiagnosed but the genetics team through RBWH are pretty convinced she will be positive for Coffin-Siris Syndrome. It would be nice to have an answer after almost 9 years but results are still months away.

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    How is your daughter going?
    We saw genetics there. . At genetics health qld.
    Why is it taking so long so long for results?

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    The bloods had to go over to Japan to some specialists dealing with coffin-siris. Can take over 12 months.

    She's doing ok. Her Perthes disease is playing up and the GP is concerned so thats got me a little worried.
    Her epilepsy is getting out of control so pead appointment next week will be a chat about new meds.
    Also no weight gain despite her having 1100ml or 1.5cal formula per day.
    No idea on all of that. Getting a bit frustrated again.

    On a better note though, she has central sleep apnea and ive just completed a fundraiser for her to get a portable o2 concentrator. Its been paid for and we'll have it next week

    Hows your little miss doing?

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    I've just made a thread about Rett syndrome, after Googling Coffin siris syndrome Rett seems to have quite a few things in common with Coffin siris. I'm also an ear, would love to chat with similar groups. My DS turned 2 in January. We have genetic counselling coming up so hopefully learn lot's more. It's all just been hurled at me this morning, very fresh and all new. Would love to chat if you would like...

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    @zoz you have a diagnosis now?

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    Yes we do @Tamtam. Unfortunately thinking it was ASD for over a year I wish it was, the heart aches right now as we've only known a few days since Tuesday. He has Mecp2 duplication syndrome which is similar to Rett syndrome but has the other name in boys, more complications. He has another round of blood tests to go yet though for genetics. My heart is broken, I'm broken. It mimics alot of ASD symptoms so that makes sense now.

    Sorry to hijack your thread PatchOfEden.

  10. #10
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    Quote Originally Posted by zoz View Post
    Yes we do @Tamtam. Unfortunately thinking it was ASD for over a year I wish it was, the heart aches right now as we've only known a few days since Tuesday. He has Mecp2 duplication syndrome which is similar to Rett syndrome but has the other name in boys, more complications. He has another round of blood tests to go yet though for genetics. My heart is broken, I'm broken. It mimics alot of ASD symptoms so that makes sense now.

    Sorry to hijack your thread PatchOfEden.
    Oh hugs hugs hugs.
    I know several families who had ASD diagnoses for a time. ... Then got the Smith-Lemli-Optiz syndrome diagnosis (that's what my daughter has).
    It's huge. I wish I could say something helpful. I can completely understand feeling broken.
    You will be okay. ..A new kind of okay. I different kind of okay. But it's completely okay to feel broken. It's a lot to digest. xx

  11. The Following User Says Thank You to Tamtam For This Useful Post:

    zoz  (14-05-2015)


 

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