Viewing 8 posts - 1 through 8 (of 8 total)
  • #192676
    Becker MD Screening

    I just wondered if anyone can shed a little light on “screening”.

    My daughters, aged 18 and 16 are carriers of BMD, and I have received a text from the Genetics nurse to tell me she will be contacting them in relation to screening. I can’t find much information online.

    ranald
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    Joined: 05/09/2010
    #192678
    Reply To: Becker MD Screening

    Hi Ranald

    I think it will be to determine in more detail the level of their carrier status with view to them being of age and having own children.

    """""""What doesn't kill you makes you stronger""""""

    Cat Cat
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    Joined: 20/09/2010
    #192679
    Reply To: Becker MD Screening

    I was thinking the same thing, just wondered if anyone had a thought on the subject. Neither of them seem to be particularly bothered about it, but still I would have liked to have some information to impart.

    ranald
    Participant
    Posts: 747
    Joined: 05/09/2010
    #192686
    Reply To: Becker MD Screening

    I have had all my children tested, as early as possible, for FHSD. This was at my request and not through any screening program as none exists in this neck of the woods. The decision was not easy, as I would not have wished to tell my children that they had my condition. Out of my five biological children only one has it, and it was his diagnosis that lead to mine. So in hindsight, my other children are free of the condition, and it will end with my son who is not having children.
    In contrast with my brother in the US, as I have mentioned before, he has been told that he, and ultimately his children could not have the condition as his doctor has said so without any form of test whatsoever. Thus he and they carry on without not knowing if it will strike. I am beginning to see symptoms in my brother now, but still the doctor refuses a test.
    Thus I would encourage you to get them tested. as Cat has pointed out, they are coming to a critical time in their life, and the knowledge of whether or not they have will give them power to make decisions about their futures.
    As a corollary, I was diagnosed as a carrier, and I now have far more serious symptoms than my son even though I was late onset. Knowledge is power.

    Mike

    So many love songs, so little love.

    embayweather embayweather
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    #192703
    Reply To: Becker MD Screening

    I personally would want to take test if its being offered as NHS budgets are a fragile thing.

    My mother was told on my diagnosis at 9 that my siblings would be given genetic counselling and testing at 16 or on planning a family. My sister was denied testing they promised when she got married.

    """""""What doesn't kill you makes you stronger""""""

    Cat Cat
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    Posts: 1,002
    Joined: 20/09/2010
    #192734
    Reply To: Becker MD Screening

    Thanks Mike and Cat, I would certainly encourage them to take whatever help is offered. They were tested as infants and are both carriers so I have no idea what else they might be looking for.

    A brief scan of the internet and there is talk about donor sperm or eggs, adoption etc. All decisions they will have to consider in the future I suppose. I just wish I had been diagnosed before either were thought of, I actually hope my 18yo is serious about not wanting children of her own.

    ranald
    Participant
    Posts: 747
    Joined: 05/09/2010
    #192744
    Reply To: Becker MD Screening

    It is possibly a family history study to measure how the effects mentally socially, physically and genetically things are for the siblings and children of people with MD. It is only with progressing testing tech and thinking that wider pictures and patterns are seen. When I was tested it was said that carriers where not effected. But as Mike proves this is not the case. Both my mother and uncle are showing mild symptoms.

    It is possible only as adults can they measure the gene MD percentage rate or severity.

    Another option to explore and maybe this department that made contact can help with is PGD I think its called. where the eggs and sperm are checked for MD. It is a form of IVF.

    """""""What doesn't kill you makes you stronger""""""

    Cat Cat
    Moderator
    Posts: 1,002
    Joined: 20/09/2010
    #192915
    Reply To: Becker MD Screening

    Sorry I didn’t reply to you, Cat, my daughter told me she has received an appointment letter from the hospital and will keep me informed.

    ranald
    Participant
    Posts: 747
    Joined: 05/09/2010
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