Just diagnosed and next genetic testing

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  • #184178
    Just diagnosed and next genetic testing

    Hello and Merry Christmas

    I’ve just been diagnosed with Distal Myopathy and waiting on Gene Testing to confirm which one it is. Can anyone shed any light on how long I should expect it to take please?
    The MD tests were purely a “just to check we’re not missing anything” by an orthopaedic specialist for problems with my ankles (torn ligaments).
    He referred me to a Neuro consultant at the same hospital who had him do a biopsy for them which confirmed MD, the Neuro consultant said it’s a distal myopathy, she said the team will meet to discuss in Dec and decide which Genes to test first. In the meantime she has allowed the orthopaedic consultant to go ahead and sort out my ankle op, which will hopefully stabilise my dodgy ankle and stop me falling so I can get back to more activity 🤞 which he booked me to have the following week.
    This is all going so quick, from the Nerve conduction tests in Aug to 3 weeks ago having the biopsy results and almost 2 weeks ago having ligament reconstruction and now hobbling round in plaster. But I’m eager to know, as then my girls (8&10) can be checked to make sure it will hopefully never affect them (no one else in the family are aware of anyone having issues. Sorry for the essay :scratch:

    Sykstercat1
    Participant
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    Joined: 20/12/2019
    #184179
    Reply To: Just diagnosed and next genetic testing

    Hello and welcome to the forum. Please never apologise for essays. Information is always useful. In your case it certainly illustrates a bit of a roller coaster ride through this past few months. A quick scamper through the forums pages would tell you that the time to diagnosis varies hugely throughout the country and indeed to some extent on the type of MD that you have. I am sure others will chip in with more specific advice, I can only relate that my son’s and my genetic test results took around three months. The tests for my last two daughters took over a year because they kept ‘losing’ the samples. May I suggest that however long it may take it will be worth the wait to find out exactly the problem is. Your consultant neurologist will already have a good idea from her own experience and training, and will look to the tests to confirm her thoughts. With over ten different, recognised, types it is important to be sure. It does seem as though your medical team are well focussed on getting the answer to your quickly.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
    #184194
    Reply To: Just diagnosed and next genetic testing

    Thank you Mike and a Happy New Year to you. To be fair the team have been great there.
    Hopefully I’ll know more in the new year and then go from there.

    All the best
    Kath

    Sykstercat1
    Participant
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    Joined: 20/12/2019
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