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.