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  • #165194
    Diagnosed today

    Hello everyone,

    I received the news that I carry the FSHD gene today and am finding it quite difficult coming to terms with it. I think the hardest part for me is the uncertainty of it all, how will this affect me and my future. I thought I had no symptoms but after reading all about it I realised I cannot whistle, do press ups or pull ups. I never really put two and two together. A couple of my family members have both been diagnosed and, to be honest, I had the test in the mind that it would be to rule out the fact that I had it. I don’t think I really prepared myself for the possibility that I would carry the gene. Everyone on this website is so positive and motivational. I was wondering if anyone could give me any advice on how they came to terms with it? Thank you so much in advance.

    Posts: 0
    Joined: 20/12/2018
    Reply To: Diagnosed today

    Hello and welcome to the forum. That was how I started off nearly twenty years ago, not because I had any symptoms, but because my son was diagnosed and I was as a carrier. In the end FHSD claimed me, and took away two of my careers. BUT you asked how I came to terms with it. I have a medical background so it was somewhat easier for me, that doesn’t mean to say it has been easy. The old adage of there are always folk worse off than yourself came to mind and in this case was very appropriate. There are, and will always be. Equally I have always tried to treat it just one of life’s hurdles that you have to overcome. Initially my thoughts were tied up with my children, I have seven. Had more than one got the condition from me? So I became embroiled in the testing of them, as well as learning about the condition myself. In addition, as time went by, the symptoms started to show, and they were so gradual as to be hardly noticeable, more like what happens when you get older. My job was not, for the most part, very heavy so I was relatively unaffected apart form my arms were getting tired very quickly when I lifted them. The story I am painting here is that it all came on for me very slowly and gently. It has stopped me doing things yes, but also prompted me to do others instead. I have met some amazing people along this journey too, people who put my meagre attempts at dealing with my condition to shame. I have had the privilege of helping those where I go for treatment fundraise, and that in itself has given me a new perspective and goal in life. So you can see that with the diagnosis comes not an end of life picture but a beginning of a new life picture. Your options may be different now, but they are options. You can still achieve much, and possibly more than you had expected. Yes it is something that may well affect your life in ways you cannot tell now, but that is like so many other things in our lives.


    So many love songs, so little love.

    embayweather embayweather
    Posts: 8
    Joined: 02/11/2015
    Reply To: Diagnosed today

    Hi Welcome to forum

    The coming to terms is very individually to everyone in much the same way grieving is. I personally was diagnosed as a child around 9 (eventually) Everything has been a very gradually process and always things like hop, skip or indeed whistle I could never learn. To that end I have become adept at reinvention. With each change or decline I have learned to compensate. Buy aids to make easier or alter environment at home or work to maintain the muscle power I have. Fortunate to have a job that can be altered with my health issues by way or duties or hours.

    For as long as I can remember I have worked by the personal goal of ‘What is next’ my diagnosis was very bleak in the 80s.
    I refused to live with the fear of that misguided diagnosis but with determination motivation to have goals and dreams. So rather than fear the decline that has never came on the professionals prescribed schedule, I work with what comes as it comes. Treat your MD as background noise. its there but dont let it rule you. Have dreams, goals hopes and adventures.

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

    Cat (Mod) Cat (Mod)
    Posts: 1,002
    Joined: 20/09/2010
    Reply To: Diagnosed today

    Hi EL91

    Welcome to the forum, I’m glad you found us. I agree that there is a lot of positivity and motivational posts on here but I think many of us have been where you are now and find it hard to process diagnosis and just get our heads round the impact on the future. We all do it in our own way, some talk or write, some plough ourselves into other things, some research or link up with others who are in a similar position and I do think some try to blot it all out for a bit. I’m not sure whether there’s a right or wrong way but do what works for you.

    Personally, I didn’t really go through this stage as I was seeing doctors from the age of 2 and it just all sort of happened – it was my reality from virtually the beginning. I have still had to adapt to a lot of changes through the years including a few biggies. I like to understand things so like to keep an eye on research and chat to a lot of people around the world who have the same condition as me (Ullrich CMD). If or when you want to do that then there are some good online groups for FSHers.

    FSH support uk

    Facebook group
    We have a few members with FSH MD but also many members who will have experiences to share – there are quite a few crossovers with other types of MD. This forum can be whatever our users want it to be… a sounding board, support, place to chat or ask questions. We will help wherever we can.

    Keep in touch and check back as others will no doubt add to this thread.

    All the best.

    A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adams

    sar78 sar78
    Posts: 2,246
    Joined: 05/03/2015
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