Viewing 5 posts - 1 through 5 (of 5 total)
  • #188764
    Hello

    Hi
    My name is Helen, I’ve live with a muscle condition for 20 yrs,since I was 36 which was diagnosed as Polymyositis, however I asked to change to a new consultant 3 years ago because I felt I wasn’t getting anywhere. To cut a very long story short, I was a participant in the 100,000 genome project and gave a blood sample 2 years ago.
    Last week I found out I had two faulty genes, one was the ANO5 and the other is a novel gene and has never been documented on before. My neurologist thinks I may have LGMD, after looking it up on here I see the ANO5 gene is associated with LGMD2L.
    All my results have gone to Newcastle for further analysis.
    It’s been mind boggling having suddenly changed from a condition that I thought I had for all those years and now getting my head round MD.
    :new:
    :ty:

    Beadybird
    Participant
    Posts: 0
    Joined: 26/07/2020
    #188773
    Reply To: Hello

    Hello and welcome Helen, glad to have you on board. Often changes like this can happen, especially as new tests are developed. Polymyositis, and indeed Dematomyositis (which I am currently being investigated for), are both very rare conditions. Investigating them, as you know, is complex, and currently impossible due to a certain virus. So it is possible that the new diagnosis should come as no surprise. The consultants you will see are extremely well trained, and concerned with your welfare, but have t sift through a mountain of information often, before making a diagnosis.
    In some ways being a participant in the project has helped you more than you had expected. At least now you have a diagnosis backed up by genetic evidence, and can take your life forward with that knowledge.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
    #189063
    Reply To: Hello

    :welcome:

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

    Cat Cat
    Moderator
    Posts: 1,002
    Joined: 20/09/2010
    #189073
    Reply To: Hello

    Hi Mike,
    Thanks for replying,I hope you find out if you have PM or DM,I learnt a lot about these conditions over the last 20 years. I agree finding out about the genetics has been a surprise, I didn’t expect any answers from there. They had warned me that they may not find anything. Now I’m trying to learn all about LGMD.

    H 😊

    Beadybird
    Participant
    Posts: 0
    Joined: 26/07/2020
    #189074
    Reply To: Hello

    😊 :ty:

    Beadybird
    Participant
    Posts: 0
    Joined: 26/07/2020
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