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Thread: Genetics

  1. #1
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    Genetics

    Hello

    I read that some MND/ALS patients have been tested to see if they have a gene mutation. I was diagnosed in Italy and the UK and no one did a gene test,my father and mother died early and I have no grandparents.

    I am concerned about my family and the implications for them.

    Chris

  2. #2
    Forum Member Barry52's Avatar
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    Hi Chris,

    The MND clinic where I was diagnosed offered gene testing for my family since a distant relative had MND. My family members declined. They argued ‘what will be will be’ and they didn’t want to know.

    Of course this is a very personal choice and I understand your concern.

    Best wishes,
    Barry
    Iím going to do this even if it kills me!

  3. #3
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    Hi Chris,
    My mother died of MND 30 years ago and I was diagnosed in March this year. The MND Unit at the John Radcliffe in Oxford have identified my faulty gene as C9orf72, which they are sure I inherited from my mother. I have 5 siblings, some of whom have children. The advice I have received is that, while there is no cure, it is better for other family members not to know if they have the faulty gene. Some people take the news that they also have the faulty gene well, but others can find it very hard to bear. Moreover, those without the gene can suffer from guilt.

    This picture is likely to change for this particular faulty gene over the next five or so years as a potential cure may emerge. If it does, then it would then be better to know if other family members have the gene. I do not know the position on other faulty genes.

  4. #4
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    Thanks
    Chris

  5. #5
    Forum Member Boiler68's Avatar
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    I remember years ago following my husband's diagnosis asking his neurologist about genetic testing and he said, why on earth would you want to know if your children are at risk? so it's never been mentioned since BUT he now has a different neurologist who asked him at clinic on Wednesday what his thoughts were on it, referred us to reading the MNDA fact sheets on it and we could all have a chat next time about it. I would not want our children to be tested but as 3 of them are over 18 I guess it would be up to them. Hubby said if it helps others, he may consider being tested himself. Personally it would finish me off if my children were affected..it's been such a difficult journey this with my husband x

  6. #6
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    Hello
    I have similar fears that my daughter and grandchildren could be carrying some defective genes. We have no history of MND in my family but it must start somewhere. However, as there is no cure at the moment, I feel it is best to remain ignorant unless symptoms appear because it could cause years of unnecessary worry. Even if a defective gene is located it does not mean that MND will develop, as other factors need to come into play. Let's just hope a cure can be found soon then we can all stop worrying about other family members.

  7. #7
    Forum Member Lynne K's Avatar
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    Well said Ann. Lynne

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