Anyone out there with CACNA1S related myopathy?!

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  • #190263
    Anyone out there with CACNA1S related myopathy?!

    Hi guys,

    My son has recently been diagnosed with CACNA1S related myopathy!
    Very hard to find any info, even our doctor does not know much about it!

    Please get in touch!

    Speller1
    Participant
    Posts: 0
    Joined: 15/10/2020
    #190266
    Reply To: Anyone out there with CACNA1S related myopathy?!

    Hello and welcome. Indeed, there is a limited amount of information about your son’s condition, but there is some. What questions do you have in particular? What have oyu been told already? What are your concerns? Lets see if we can help you.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
    #190268
    Reply To: Anyone out there with CACNA1S related myopathy?!

    Hi Mike! Thanks for your reply. To be honest with you, we have not been told much. I know it affects the skeletal muscles. I wanted to maybe find someone with the same condition and how it affects adulthood ect. I don’t know what to expect!

    Speller1
    Participant
    Posts: 0
    Joined: 15/10/2020
    #190284
    Reply To: Anyone out there with CACNA1S related myopathy?!

    HI Speller1 and welcome to forum

    There is some really good facebook groups for CMD conditions. There is a lot of parents of the various conditions from Uk, Europe and the US. You will also see first hand real time accounts of parents and their kids from birth upwards. Teens. adults with CMD conditions even if its not exact match to your family’s MD path.

    What I would say even people with my exact gene anomaly haven’t all tracked the same as myself. Some of us are ventilated. some from earlier than others while some have no vent need right into 60-70s. Same as with walking. There isn’t always a reason to why certain goals or milestones are met or when.

    Facebook groups
    Trailblasers (mduk group)

    Living with Md
    Cure CMD

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

    Cat Cat
    Moderator
    Posts: 1,002
    Joined: 20/09/2010
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