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  • #176861
    Joining a bit late?

    I really feel I should have joined this forum for support, advice and understanding some time back. I’m in my late 40’s. I was diagnosed with Muscular Dystrophy in May 2017. The problem was discovered following a blood test identifying high Creatine Kinase levels and muscle weakness and pain.

    I’ve received no real diagnosis to date. My father had the same problem, he was diagnosed with MD at the age of 28 and lived until he was 71. My Dad also never received a full diagnosis.

    Seemingly all tests possible have now been carried out and I’m going back round the same testing regime again. (I have had EMG twice, ECG, Muscle Biopsy, Mitochondrial DMA testing, SMA Blood analysis, the list goes on)

    Since I’m now in a ‘wait for another 6 months and we’ll see’ position, I’m going to try and understand the symptoms of similar conditions and think this forum will be a fantastic place to start. So, here’s me say a big “Hi” to all of you out there.

    DeeplyOdd
    Participant
    Posts: 0
    Joined: 04/04/2019
    #176921
    Reply To: Joining a bit late?

    Hello and welcome DeeplyOdd. WE will do what we can to help you. You will see, if you look through all the forum posts, that diagnosis is often a problem for us MD people. There are relatively not that many, and when considering the sub groups, even less that physicians can get experience with when they see them.I hope that all the tests have led you in the direction of a neurologist who can best guide you in the search for answers. Have you any idea what type of MD you may have? Are you getting any active help at the moment?
    May I also caution you about asking Dr Google for advice. It is all too easy to go astray in them there search engines.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
    #176922
    Reply To: Joining a bit late?

    :welcome:

    It’s never too late to join, good to have you on board!

    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
    Moderator
    Posts: 2,246
    Joined: 05/03/2015
    #176953
    Reply To: Joining a bit late?

    Thanks very much for the welcome.

    DeeplyOdd
    Participant
    Posts: 0
    Joined: 04/04/2019
    #176954
    Reply To: Joining a bit late?

    Mike, thanks for your reply. Its very clear that the whole diagnosis subject is terribly complex. I’m under the care of a Neurologist and they’ve been in discussion with a collection of specialists geneticists and
    neurologists. It seems as though from the genetic point of view, they are not able to take this any further until whole genome sequencing is available later this year (possibly).
    My neurophysiology suggested a myopathic condition, but other factors have pointed at spinal muscular atrophy. As such, I’ve just been through the neurophysiology study again – we await the second set of results.
    I completely agree – Dr Google is a minefield. However, I’m learning loads! When you said “Are you getting any active help at the moment?”, the answer would be No. Do you have some recommendations? Any help at all would be nice.

    DeeplyOdd
    Participant
    Posts: 0
    Joined: 04/04/2019
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