Hello…I have Myosin Heavy Chain 7 (MYH7)

Viewing 4 posts - 1 through 4 (of 4 total)
  • #75682
    Hello…I have Myosin Heavy Chain 7 (MYH7)

    Hello ladies & gents!

    How is everyone this afternoon?

    I’ll just give you a little background on myself…I’m 33 yrs. young :P My family noticed something wasn’t quite right when I was 2yrs old and they guessed it was MD as my mum who is 53yrs old has had it from birth. We’ve both had various spinal fusion operations, my mum had a bone graph fusion at 8yrs. and I had the metal rods at 10yrs old (a little too late but there was no funding available for me to have the operation apparently, so my family took me elsewhere). We’ve always been told it was MD but never had a diagnosis up until 2 years ago when I went to the Muscle Clinic in Newcastle, UK. where they got back to me with a diagnosis of Myosin Heavy Chain 7 (MYH7), then later my mum was tested and she has been diagnosed with the same.

    We were always told that members of our family could be carriers but they wouldn’t be physically effected but may pass it to a child and they might be physically effected, however since having the diagnosis we were told family members could have it and be physically effected but that it would only effect their heart which could be very dangerous. So they started testing family members, my sister (there is only her and I and we have different dads) and 2 of my mum’s sisters (she’s 1 of 6, there’s 2 boys 4 girls and they all have the same parents) and nobody was a carrier and it wasn’t until they tested both of my mum’s parents and they weren’t even carriers that they realised the faulty gene had mutated in the womb when my nana was pregnant with my mum.

    So that’s where we are so far!

    Does anyone here have Myosin Heavy Chain 7 (MYH7)? We have been told that its very rare and that there’s not much information on it and our consultants don’t really know much about it and our Neurologist just wrote the name of the diagnosis on a scrap of paper and said ‘here go home and Google it’ lol! So it would be brilliant to chat with anyone who has MYH7.

    Cheers guys & take care of yourselves :D

    Rainbow
    Participant
    Posts: 7
    Joined: 23/09/2015
    #96944
    Re: Hello…I have Myosin Heavy Chain 7 (MYH7)

    Hello Rainbow – it is great to put a face to the name : :waving:

    Yeah, you’re a spasmodic mutation, I am with FSH absolutely no family history of it until me. I am sure I have seen reference to your type of MD because it made me think of a post code, lol.

    Enjoy the forum, ask away, anything you feel like sharing, we will tackle it.

    :mrgreen:

    I'm always the animal, my body's the cage

    I blog about nothingness www.amgroves.com

    AM
    Participant
    Posts: 4,751
    Joined: 05/03/2015
    #176432
    Reply To: Hello…I have Myosin Heavy Chain 7 (MYH7)

    Hi I have the congenital myopathy AKA multi minicore myopathy caused by the MYH7 gene. I’m the only one in my family to be symptomatic as both my parents had the faulty gene. Had my spine fused back in 2002 after 2 cancellations due to NHS funding, couldn’t straighten it due to my restricted lung disease after having pneumonia at 10 in 1996.
    I have palpitations which i get recorded annually. My mum is having heart complications possibly due to being a carrier of the faulty gene. She is having the same symptoms as my nan who had a pacemaker fitted nearly two years ago, my nan is yet to be tested. My dad’s heart is fine at the moment. Eventually my half sister will need to be tested as she has developed scoliosis to so we don’t know if that is connected.

    Titanium Ragdoll
    Participant
    Posts: 0
    Joined: 20/03/2019
    #176456
    Reply To: Hello…I have Myosin Heavy Chain 7 (MYH7)

    Hello Rainbow. I am really so saddened to her the story. Once again the “hers your condition name now go look it up for yourself”. I heard that myself when I was diagnosed, and my number two son was diagnosed. But as has been said at least you have a name for it now and you can make progress. Please do come back if you have any questions or even if you just want to vent.

    Mike

    So many love songs, so little love.

    embayweather embayweather
    Moderator
    Posts: 8
    Joined: 02/11/2015
Viewing 4 posts - 1 through 4 (of 4 total)

You must be logged in to reply to this topic.

Keep in touch