FSHD and Me


I have an extreme, second generation, form of Facioscapulohumeral [FSHD] Muscular Dystrophy with related Chronic Obstructive Pulmonary Disease [COPD], resulting in wheelchair use and 24 hour-a-day ventilation via a tracheotomy. Not mention a hard-earned familiarity with umpteen medical terms.

The name Facioscapulohumeral describes the muscle groups usually affected most –
‘facio’ = facial
‘scapulo’ = shoulder blade
‘humeral’ = upper arm.

For those more severely affected other muscle groups are weakened including combinations from the neck, forearms, wrists, fingers, hips, legs, ankles and the back. At it’s most extreme FSHD can weaken the heart and, as I know only too well, the lungs. Hearing and vision can also be affected.

FSHD is hereditary in an autosomal dominant pattern, which means if either parent carries the gene then there is a straight 50/50 chance their child (of either sex) will inherit the condition. The genetic culprit here is the double homeobox protein 4 gene (DUX4) on chromosome 4, in the 4q35 region. In normal conditions, the gene has a chain of identical units of DNA called D4Z4 repeats numbering between 11 and 100. Someone with FSHD typically has between 1 and 10 repeated units. Generally speaking, the fewer the number of repeats the more severe the symptoms. I have 2 repeats.

My father Roger’s death, aged 66, was sudden and unexpected. He had FSH Muscular Dystrophy, but a milder, more typical manifestation of the condition than the godawful version inherited by two of his sons, Mark and myself. Until Mark and I were diagnosed aged 6 and 8, Dad had attributed his clicky knee and distinctive gait to a childhood diagnosis of Polio. He walked well into his fifties, albeit increasingly precariously, until he fell into a glass-fronted display cabinet and came within a gnat’s whisker of severing his carotid artery and fracturing his spine. The family breathed a collective sigh of relief when he started to use a wheelchair.

For Mark and myself, the condition progressed more rapidly. Mark was using a wheelchair by his late teens and I was using one from age 23. As our muscles gradually atrophied we would reach tipping points: Needing a wheelchair, having to stop driving, needing hoisting, losing the dexterity to write or type, needing a ventilator at night, needing 24/7 ventilation, needing a tracheotomy. And a thousand incremental steps of decline in-between. It took 58 years for me to need a tracheotomy. Mark died aged 55.

Without wishing to sound overly dramatic, I have been on the brink of death on several occasions. Several times doctors have discussed withdrawing life-support. They have speculated on my quality of life should I survive. At one point I was persuaded to allow a DNR (Do Not Resuscitate) notice to be attached to my medical file after it was explained to me the toll resuscitation would take on me should my heart fail. It was only after Polly and I had a very frank discussion about the quality of life issue a few weeks later that I had it withdrawn. A few weeks after that discussion my heart did fail, I was resuscitated, and it did take a toll. But, as mentioned above, the deterioration in my condition has been incremental, taking half a century from diagnosis to my present situation. Over those fifty years, a lot has happened, much of it unrelated to, or tangential to the background muscular dystrophy. I’ve taken a degree, travelled, had a career, co-written a chart-topping, Ivor Novello winning song, made life-long friends, fallen in love, got married and had children. It’s not as if I was fit and healthy one moment and unable to move or breathe unassisted the next. I have had time to come to terms with it all and time to strip away most regrets, focus on the future, and concentrate on living, one breath at a time.

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1 Comment

  1. Louise McKinley on 26/11/2019 at 5:25 pm

    I remember being part of Rob Frosts many Seed Teams, back in 1994 – where you and Polly would perform / lead drama. Always making us laugh – fond memories all round!

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