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Genetic counselling

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Linsy
Linsy Community member Posts: 2 Listener
in Rare, invisible, and undiagnosed conditions
My consultant has recommended genetic counselling and I don't really know what this involves and my head is a mess and I wondered if anyone has been through it?
My daughter was born 6 days ago and we've been told she has albinism although it's pretty obvious. I'm a complete mess with it and extremely hormonal and I just don't know where to turn. I've tried looking things up online and it's only adding to my worries about her future and I just want to protect her from everything. She's been referred to an ophthalmologist as they think she has problems with her eyes and I'm so scared for her and it's all just too much right now. I had lots of the usual worries about when she was born but this never even crossed my mind.

It's been a complete shock and I know this sounds awful but I already feel like a spectacle. We're still in hospital and the staff are lovely but it feels like more and more just pop in to look and I hate it. Me and my husband wanted 2 children close in age, is genetic counselling a good idea and how reliably could they tell us whether we're likely to have another child with the same issues?
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  • Biblioklept
    Biblioklept Community member Posts: 4,682 Disability Gamechanger
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    I don't really know about genetic counselling but you have a 6 day old baby!! That's so adorable and I just wanted to say congratulations <3 Life is precious and even though things are hard for you right now it will pass and you've got a tiny little sweet baby. 
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  • Tori_Scope
    Tori_Scope Scope Posts: 12,492 Disability Gamechanger
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    Welcome to the community @linsy :) Thank you for joining, and for telling us about your situation.

    I can imagine this could feel really overwhelming! It's not something I've been through myself, but hopefully someone with a similar experience will be able to offer some advice and support soon. 

    I've had a look on the NHS website, and it says the following:
    Genetic counselling

    If you’re offered a genetic test, you may be referred to a genetic counsellor to help you think through what the test means for you and your family.

    A genetic counsellor can help you understand:
    • the risks and benefits of you having a genetic test
    • the potential results of your test and what they mean
    • how your family members may be affected if the test shows a serious health condition runs in your family
    • the risk of you and your partner passing on a health condition to your children
    • your options if you have a child with an inherited health condition and you do not want your next child to inherit it
    A genetic counsellor can also direct you to relevant patient support groups.

    The British Society for Genetic Medicine has a list of organisations that offer information and support.

    The charity Genetic Alliance UK has more information about issues to consider before having a genetic test

    If you decide not to have a genetic test, you will still receive care and support from healthcare professionals.

    Perhaps you could try getting in touch with one of the organisations listed above? 

    You may also be interested in accessing one of our family services, called Navigate. They provide online emotional support for parents and carers of disabled children who are finding out about their child’s additional needs. 

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  • Biblioklept
    Biblioklept Community member Posts: 4,682 Disability Gamechanger
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    How much longer will you be in hospital @linsy? maybe being at home will give you all some peace to enjoy your little girl <3 
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  • Linsy
    Linsy Community member Posts: 2 Listener
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    Thank you everyone I just feel heartbroken and then overwhelming guilt. Will this feeling go away? My husband doesn't want us to tell our family yet so we haven't even shared the news she has arrived. We have agreed to genetic testing and counselling but that's the only update I have. 
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  • SueHeath
    SueHeath Community member Posts: 12,420 Disability Gamechanger
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    Bless you @Linsy you haven't had time to settle/enjoy you lovely baby.
    Your hormones are all over the place, you need to look after yourself more so at this stage.
    Is this your first child ?
    Try and take things as they come i know it's a big shock, but try and get into a baby and you routine, don't forget let your partner help if he wants.
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