Facioscapulohumeral Dystrophy (FSHD)

Discussion in 'Neurological diseases' started by Daisybell, Jul 29, 2022.

  1. Daisybell

    Daisybell Senior Member (Voting Rights)

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    I have just had a Neurology appointment offered for Monday morning…
    Presumably my haplotype test results have come back.
    At least this appointment is with the doctor with an interest in neuromuscular conditions.

    It’s now 10 months since I first went to the GP requesting testing, after my dad was diagnosed.
     
  2. Trish

    Trish Moderator Staff Member

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    10 months. That's an awfully long wait. I hope you get helpful information and support from the neurologist.
    :hug:
     
  3. Snow Leopard

    Snow Leopard Senior Member (Voting Rights)

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    Best of luck. (I'm not a fan of neurologists...)
     
  4. Mij

    Mij Senior Member (Voting Rights)

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    A reliable biomarker certainly helps with the investigation.

    I had a good experience when I saw a neurologist. I wasn't expecting anything M.E related, but he did r/o MS.
     
  5. Daisybell

    Daisybell Senior Member (Voting Rights)

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    I’m hoping for a confirmation that my symptoms are due to FSHD. That will mean I get a diagnosis that is seen as causing disability, rather than having what is uselessly termed here a ‘chronic health condition’ which allows the health and social system to look the other way. I don’t need support at the moment, but I might in the future. So I am really wanting to prepare. Also, I would like the opportunity to get on any research register for potential drug trials….
     
  6. Daisybell

    Daisybell Senior Member (Voting Rights)

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    Well the appointment went better than I was hoping!
    The neurologist found signs of FSHD - weakness in my neck, and one shoulder, and eye lid. He also didn’t disagree with my reports of weakness in my core but couldn’t find objective evidence. I am getting a referral to cardiology to investigate my episodes of tachycardia. I have some gabapentin to try for pain relief, although with a warning that the side effects may be worse than the benefits….
    I am going onto the research register, and will get annual review. I have his direct email if problems arise.
    All in all - i am pleased to have some certainty.
     
  7. Daisybell

    Daisybell Senior Member (Voting Rights)

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    And I took some gabapentin last night - no horrible side-effects and I felt generally more comfortable and less achy and sore.
    Yay!
     
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  8. Hutan

    Hutan Moderator Staff Member

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    Great to hear that there is finally some decent progress.
     
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  9. Trish

    Trish Moderator Staff Member

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    So good to hear you have some answers and a helpful specialist at last, @Daisybell. :hug:
     
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  10. Daisybell

    Daisybell Senior Member (Voting Rights)

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    It’s interesting that the gabapentin is definitely helpful. I forgot it the other night and then was very sore and stiff. Two tablets = more comfortable but a bit groggy. One tablet seems to give me a more restful sleep and i feel less sore…
     
  11. Daisybell

    Daisybell Senior Member (Voting Rights)

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    Another update.
    I went for a blood test last week - neurologist requested Creatine kinase and vit D. My CK is significantly raised - no great surprise but I guess a sign of ongoing damage to my muscles.
    I also seem to be going through a phase of acceleration in the disease which is very disappointing and actually rather scary. Am hoping it will stop/slow down soon.
     
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  12. Trish

    Trish Moderator Staff Member

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  13. Daisybell

    Daisybell Senior Member (Voting Rights)

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    Hi anyone who reads my thread!
    I had a video meeting with some other people in NZ with FSHD - either in the family or confirmed with genetic testing. 2 people in the call last night have been long diagnosed with fibromyalgia but both have children now positive for FSHD. And we all have very different symptoms in terms of weakness. Those like me with no particular weakness to see (at least in the earlier stages - which could be 20+ years), but pain and fatigue, I think are possibly an under recognised cohort. You need a family history for it to be investigated as an option unless the weakness is very apparent and very typical.
    Having lots of cramps in my neck and abdomen at the moment, and my heart rate is all over the place in the mornings.
     
  14. Hutan

    Hutan Moderator Staff Member

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    Lovely to hear from you, although those cramps and variable heart rate don't sound fun.
    Given how hard it is to be investigated for this when the symptoms are just pain and fatigue, I'm wondering if it makes sense for people who can afford it to get their genome sequenced, especially those of us with family members also affected. Is there any discussion of that among your group?
     
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  15. Hoopoe

    Hoopoe Senior Member (Voting Rights)

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    Hi. I'm following with interest. I hope it helps you feel less isolated to share with us what's happening. The bit about families with FSHD and fibromyalgia sounds interesting.
     
  16. voner

    voner Senior Member (Voting Rights)

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    @Hutan, there is currently an easier and less expensive route to get someone started on investigating this. It’s a route that both @Daisybell and I took. She tested positive and I tested negative. The Jones lab is developing a new test for FSHD and you can currently (I think it’s still valid) get a test from them for free. Anyone in the world. The Jones lab is highly respected and there are many patients who are fans. If you test positive on their test, then you could pursue genetic testing.

    here is a place to start learning:

    https://myfshd.org/test-for-fshd/

    here is the Jones Lab:

    https://med.unr.edu/jones-lab
     
  17. Hutan

    Hutan Moderator Staff Member

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  18. voner

    voner Senior Member (Voting Rights)

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    There also are some FSHD facebook groups that can be useful, if you dare to tread into that realm. I dipped my toe into them and that is where I found info about the Jones lab.
     
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  19. Daisybell

    Daisybell Senior Member (Voting Rights)

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    Peter Jones from the Jones Lab does podcasts on Spotify. He’s quite a talker - but you can fast forward over the intro all about sport! He’s very knowledgable about CRISPR editing and apart from his extensive knowledge related to FSHD, he is very insightful about drug trials etc. Some of the episodes might be of interest to folk not really interested in FSHD or muscular dystrophy in general.
     
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  20. Hutan

    Hutan Moderator Staff Member

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    My son and I have sent samples off to the lab. The testing is free, and part of investigations into the genetics of neuromuscular disorders. I was interested to see that the scope of the investigations seems to be a bit wider than FSHD.

    I can't really see a down-side to doing this, especially for people who can identify a family history of abnormal muscle fatiguability.
     
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