1. Sign our petition calling on Cochrane to withdraw their review of Exercise Therapy for CFS here.
    Dismiss Notice
  2. Guest, the 'News in Brief' for the week beginning 8th April 2024 is here.
    Dismiss Notice
  3. Welcome! To read the Core Purpose and Values of our forum, click here.
    Dismiss Notice

Facioscapulohumeral Dystrophy (FSHD)

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

Tags:
Page 3 of 3
  1. voner

    voner Senior Member (Voting Rights)

    Messages:
    222
    @Hutan,

    Good to hear! Peter Jones is such a knowledgeable and enthusiastic communicator.

    I think I will take @Daisybell's recommendation about his podcast and give it a listen. it would be interesting to hear him talk about the genetic/inherited links he is seeing or not seeing.
     
    voner, Mar 22, 2023
    #41
    alktipping, Daisybell, Hutan and 1 other person like this.
  2. SNT Gatchaman

    SNT Gatchaman Senior Member (Voting Rights)

    Messages:
    4,389
    Location:
    Aotearoa New Zealand
    SNT Gatchaman, Apr 21, 2023
    #42
    Amw66, alktipping, Daisybell and 1 other person like this.
  3. Hutan

    Hutan Moderator Staff Member

    Messages:
    26,826
    Location:
    Aotearoa New Zealand
    We got our results back today (so two months including long distance postage) - both all clear of FSHD. It comes with a good detailed report.

    The report notes that if FSHD arises spontaneously (rather than inherited), then there may be a mosaic situation, when some cells have the genetic problem and some don't. In that case, the test might not identify the cells with the problem and therefore the clinical disease.
    It's terrific that the disease has a genetic researcher dedicated to it.
     
    Hutan, May 21, 2023
    #43
    voner, Daisybell, Trish and 6 others like this.
  4. Kitty

    Kitty Senior Member (Voting Rights)

    Messages:
    5,324
    Location:
    UK
    Yes, and offers free testing world-wide – that's such a great facility to include in their study.
     
    Kitty, May 21, 2023
    #44
    voner, Trish, Hutan and 1 other person like this.
  5. Hutan

    Hutan Moderator Staff Member

    Messages:
    26,826
    Location:
    Aotearoa New Zealand
    @Daisybell and @voner and others could talk about this in more detail, but it was really interesting to see how important the epigenetics is. From my quick skim of the report I received, there are gene alleles of at least two genes that are permissive of FSHD (and I have one of them, but so too do 75% of the population) and then it is a matter of how methylated the gene is. I'm not sure how the methylation is controlled in a way that is heritable.

    It really underlines how difficult it might be to find a genetic cause of an illness. I should watch the Peter Jones podcast that Daisybell mentioned some time to understand it better.
     
    Hutan, May 22, 2023
    #45
    Daisybell, CRG, Kitty and 1 other person like this.
  6. Daisybell

    Daisybell Senior Member (Voting Rights)

    Messages:
    2,631
    Location:
    New Zealand
    Ive been listening to the podcasts for some time now and I keep thinking i understand the genetics and epigenetics and then I realise I don’t really!
    My methylation levels for the implicated region are 8% which apparently is a clear indication that the gene is switched on rather than being off as it should be…
    It’s all a bit of a bummer really.
    And the complexity of the issue means that treatment is difficult.

    Hi everyone by the way!
     
    Daisybell, May 22, 2023
    #46
    Amw66, Hoopoe, Hutan and 5 others like this.
  7. voner

    voner Senior Member (Voting Rights)

    Messages:
    222
    @Hutan, do you think it is possible that the UK DecodeME project might eventually lead to the pursuit of avenues like this? I am not suggesting we know anything yet, but is this a example of genetic hints leading to at least a diagnostic methodology?
     
    voner, May 22, 2023
    #47
    Hutan and Kitty like this.
  8. Hutan

    Hutan Moderator Staff Member

    Messages:
    26,826
    Location:
    Aotearoa New Zealand
    I'm not the person to ask. @Andy and @Simon M and especially @Chris Ponting may have some comments.

    I do think it's entirely possible that DecodeME might eventually point to mechanisms like this. It's just that it may well not be as simple as 'oh, the majority of people with a diagnosis of ME/CFS have a particular version of a gene while almost all healthy people do not. So, it's a problem with that particular gene.' The first pass to look for obvious things might come up with nothing.

    But, as we get more clues about where to look from things like proteomics, I'm sure that there will be genetic markers of at least predisposition to find. And I expect that clever people guiding relentlessly smart AI may be able to do complicated analyses of the genetic information to find distinguishing patterns. But, epigenetics... It seems bloody complicated.

    It would be really interesting to know how the genetic mechanism of FSHD was identified.
     
    Hutan, May 22, 2023
    #48
    voner and Milo like this.
  9. Daisybell

    Daisybell Senior Member (Voting Rights)

    Messages:
    2,631
    Location:
    New Zealand
    I had a holter monitor on for a couple of days last week. I’m trying to get to the bottom of whether my issues with my heart rate are linked to my FSHD. The health system is trying to find out whether I am making the issues up or not….!
    Anyway, I bent over to put on my socks and my heart rate (according to my iWatch) went up to 167, and stayed like that for a couple of minutes. Hopefully that will be enough evidence to a) convince them that I’m not imagining it and b) diagnose what is going on.

    Fun and games!
     
    Daisybell, Jun 10, 2023
    #49
    ahimsa, Hutan, Arnie Pye and 5 others like this.
  10. Trish

    Trish Moderator Staff Member

    Messages:
    52,193
    Location:
    UK
    Hi @Daisybell, it's good to hear from you. Thanks for keeping us updated.
    I'm sorry to hear you are still going through disbelief. I hope you they pay proper attention now.
     
    Trish, Jun 10, 2023
    #50
    ahimsa, Hutan, Daisybell and 3 others like this.
Page 3 of 3

Share This Page