Muscular Dystrophy

26 Jul


I have a form of muscular dystrophy classified as fascio-scapulo-humeral [FSH], when it comes to telling people about this disease I used to say it is like an anti-gravity disease, down is easy up is tough.  I call fall down for no reason but getting up is a struggle, almost impossible and rather a complicated affair.  The above snap shows the areas of muscles affected, things like blinking and smiling, shoulder movement, abdominal walls, walking is affected but that is just the tip of the iceberg.

My first symptoms showed when I was a small child, my Mother noticed I was finding it awkward to get clothes off and on, at church a teacher noticed something in my speech, and I was taken to hospital poked, prodded and tested before being diagnosed with this muscle wasting condition.

Medically it is caused by a deletion within a repeated sequence of DNA called D4Z4 on chromosome 4. Healthy individuals have between 11 and 100 copies of the repeated sequence. Individuals who are affected by FSH have between 1 and 10 copies. For many years, researchers thought that the repeated sequence did not contain a gene but more recent research has suggested that this may not be the case. Part of the D4Z4 repeated region contains the instructions to make a protein. This suggests that this region does contain a gene after all.

Clear as mud right, effectively the repeated sequence fails to cause the production of the protein Dystrophin which is needed in muscle fibres.

The establishment cheerily states that there is no cure and that symptoms are managed for quality of life.  That is a ‘laugh’.  Effective management for me is a visit to the Gp [primary care physician] when I have a cold or an infection and a visit to the Orthoticist when I need a new back brace or foot splint.  I have been through the physiotherapy, occupational therapy, neurological consult, neuro nurse, genetics counselling, yada yada yada and all have effectively said that me seeing them regularly will not improve my over all condition.  Or as one Consultant said “Hello I am Dr ??.  You know you have MD and there is nothing we can do for you?”

gee whizz, I’ll just sit quietly in the corner of your consulting room and die!!!

I flit between abject despair and despondency to outright rage and anger.  As my condition deteriorates and takes away yet another hard fought for skill, I find it harder to live contentedly.  My shrinking world is not sitting well with me and as I can see more restrictions heading my way – all in all I cannot see the positives in front of me and spend more time looking back at the used to times when I was [unbeknown at the time] happier.


Posted by on July 26, 2010 in Uncategorized


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3 responses to “Muscular Dystrophy

  1. MS

    July 28, 2010 at 2:29 am

    In the early 1960’s my Aunt was in her late 20’s.
    She was a beautiful, educated young woman with two young children.
    Her husband pampered and provided for her.
    She had everything, including MS.
    She HATED her disease, she never accepted it as ‘hers’.
    God bless the well meaning person who said to her, “God Bless you” or “God will take care of you.”
    She didn’t want any part of a God who would allow MS into her life.
    I never remember my Aunt out of a wheelchair.
    I remember at family holidays my grandmother, (her mother) making us lean close into the
    wheelchair when pictures were taken, trying to hide the wheelchair, as if it was something to be ashamed of.
    I remember the torment in my grandmothers eyes seeing her daughter sick and not being able to make her better.
    My Aunt had a master degree in education and she loved to read. As her world closed in on her, she joined the book clubs at her local library.
    These clubs would take a book and dissect it sentence by sentence, sometimes spending close to a year on one novel.
    These clubs gave her purpose, stimulation and friendships. These clubs kept her moving forward. I remember her always being the most interesting person in the room.


    • amgroves

      July 28, 2010 at 1:33 pm

      What a memory ‘MS’, yes sometimes those around you makes the condition all the worse. Many decades ago at a fund raising dance I was merrily bopping away and a well meaning oindividual remarked “Should you be doing that in your condition?” .. I stopped mid-hucklebuck and replied “I am not pregnant!”. It was a while before the penny dropped as to what she meant and I think a lot longer before my reply made sense, lol.

      I do hate my disease, I despise how it defines me and makes all my decisions and choices. I never liked being referred to as a ‘disabled person’, more a ‘person with a disability’, as in person first diseased second.

      Nowerdays I love being rolled into somewhere and causing havoc and chaos as a disabled person exercising her access rights, lol!


  2. unknown

    October 19, 2011 at 5:01 pm

    I feel relieved to hear I am not the only one suffering from FSH. And I am also sorry that you have to deal with this disease that no one understands. I am 23 yrs old and it effects my life everyday, i cant escape this nightmare. I watch myself deteriorate more and more. Im am very angry too. I feel like even doctors dont know enough. Have you looked into shoulder surgery?



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