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Father diagnosed and genetics

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  • Lynne K
    replied
    Thanks for the information Onein400. Lynne

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  • Onein300
    replied
    Ok.

    Just to answer the original question, but also to give a bit of evolving clarity.

    The term familial is slowing becoming redundant. Early on in research the only way to study MND genetics was using linkage techniques. Without explaining this in detail, it meant that we only found the genes in families which could show some history.

    Now techniques have exploded and we can analyse genetics in much finer granularity.

    Also just because there are no cases in a family (largely due to recall), that doesn’t mean a case is NOT genetic related. Families are quite small these days. It is also important to know that even if you have one of the currently identified gene mutations, it is not 50/50 thar you will get MND. MND is NOT a simple dominant/recessive gene inheritance disease.

    But above all, and this is most important, studies on identical twins enable us to estimate how much MND is genetically related. We state 10% but that is only because we haven’t found the associations yet.

    The twin studies point us at about 65% being genetic!! But these could be unique mutations in many genes.

    The message to take away from this is that genetics is simply NOT “There is no disease in my family so I won’t be affected”. This is vital for public awareness and to get more attention for fundraising. A large percentage of the public don’t care because they might see it is as genetic but this is due to a basic understanding of genetics. I don’t expect the public to understand detailed genetics, so I am torn as whether to speak a lot about genetics in awarness.

    Finally, MND is NOT rare. It will hit 1 in 300 of all of us. That’s 200,000 of the currently U.K. population will get it in their lifetimes!!
    Last edited by Onein300; 15 October 2018, 12:20.

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  • Lynne K
    replied
    I hope that you don't mind me chipping in Tecwyn. Worry is normal for a short time. But best to sort it out quickly because it wastes time if anybody dwells upon some unknowable negative thing. Even if you had a 50% chance of getting MND (which I doubt very much) why waste energy and ruin years of future happy times by keeping it at the front of your mind. I think that you are like me and a lot of others in that you like facts, assurity. But gaining some composure and peace while dealing with this horrid disease requires a bit of letting go of what may or may not happen in the future. As you said to Ellie earlier 'what will be, will be.' Very philosophical and true. Ask your questions of your dad's neurologist soon if you can. Get genetic testing if it will help. But whatever you do, live a full and happy life. Don't let MND take that from you. Lynne x

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  • Guest
    Guest replied
    Hi Tecwyn, No, I wouldn't worry, I'd be concerned and tell them to book a Dr's appointment. I'm not a big worrier. I don't dwell on problems either. What is the point in that? It's wasted time and energy.

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  • Guest
    Guest replied
    Ha, yes I can imagine! I'm 31 and don't live with parents but really aim to be a big support to them. Do you worry at all about your children if they ever have any sort of minor illness that could be mistaken for MND? I know that my mum is going to be like that, I suppose things like that get easier to put at the back of your mind as time goes on and dads care needs increase.

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  • Guest
    Guest replied
    How old are you Tecwyn?

    Yes, be strong as your parents will need you to be. My youngest daughter who lives at home is a massive help for me physically and emotionally
    Her dad loves seeing her so strong, supportive, and confident.
    We don't get upset in front of my hubby, he has a lot to deal with without two crying females on the list lol

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  • Guest
    Guest replied
    Yes good advice, what will be will be I guess, putting it into practice is harder, although I know that I have to stop the worry and be strong for my parents

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  • Guest
    Guest replied
    Our kids are aged 28, 27, and 22. They have all thought the same as you since their dad's diagnosis and looked up some information online and asked me some questions and that's where it ended.

    Fretting about what might happen or not happen is no good for you as I told our kids.

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  • Guest
    Guest replied
    Without being too intrusive, please can I ask if any of your children went through the same thoughts and emotions as I have mentioned and am going through? and how they have managed to cope?

    lots of positivity & love

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  • Guest
    Guest replied
    Thank you Ellie, I may just do that.

    As you can probably tell, I am scared at the minute for primarily how my dad will progress and whether there is now a faulty gene within the family.

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  • Ellie
    replied
    A maximum of 10% of people with ALS/MND have Familial ALS, i.e. the inherited form, and of their first degree relatives, not all will develop ALS.

    It's obviously not unusual to have regional clusters of Familial ALS, if the families have not dispersed widely.

    If your Dad agrees, perhaps you can join him at his next appointment and you can talk to his Neuro or Nurse, or maybe ring the MND Connect Helpline?

    Love Ellie.

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  • Guest
    Guest replied
    Thank you for the kind words, still finding it hard to believe that this isn't a genetic disease, if it wasn't I think there would be more clusters around certain occupations/locations?

    If 5000 people have a MND in the UK then given a 50/50 chance offspring will get it due to a gene mutation that leaves 2500 people of which say half won't live long enough to get a diagnosis or a mis-diagnosed. The remaining 1250 people who went on to get diagnosed would then be classed as famillial whereas in reality all cases were familial just never classed as such due to parents never being diagnosed but carrying a gene. Sorry for wittering, not sure I'm making sense! what I'm trying to say is that without the clusters there must be a dormant gene within many unlucky families

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  • Guest
    Guest replied
    Hi Tecwyn.

    Welcome to the forum, here you will find help and support and hopefully answers to your questions. MND diagnosis is difficult to get your head around for everyone involved, the sufferer, family and friends, and, as in my experience, most people don't actually know what motor neurones disease is and how it affects those involved,
    All our best wishes
    Tim and Mary

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  • Guest
    Guest replied
    Thank you Terry, yes a lot to come to terms with unfortunately

    all the best

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  • Terry
    replied
    Hi Tecwyn and welcome to the forum;

    It can take a couple of months to get your heads around a diagnoses such as Mnd.

    I echo what Ellie says in answering your questions.

    Best wishes, Terry

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