How the genetic disease impacts everyday life

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Nine years ago, I married someone with Facioscapulohumeral muscular dystrophy (FSH). I did not know it at the time. Even if I had known, I would likely have given it no more thought than the fact that Neil also had an Acura RDX.

Unlike his RDX, that powerful white sport utility vehicle that has magical powers of acceleration, FSH is slowly sapping my husband of his mobility.

Slowly, but persistently, it’s making its presence known.

What is it?

Facioscapulohumeral muscular dystrophy, or FSH, is a genetic disease, mostly hereditary in nature, which causes progressive muscle weakness and loss of skeletal muscles. In most cases, it starts in the face and slowly progresses to the shoulder and upper-arm muscles and then down to the abdomen and foot.

A friend describes FSH as a “turning up of gravity,” gradually making its victimMuscularDystrophyKatherine Camarta details herexperience of living with a loved one who has muscular dystrophy.

Illustration courtesy of Creative Commons/Wikimedia
feel more and more, “pinned to the earth.”

Only one in 7,500 births will be impacted. FSH affects both sexes equally and has no particular racial, geographic or ethnic distribution. There is no cure.

I thought it was odd that Neil could sleep with his eyes open. It now makes me think the disease is ever watchful, waiting for its chance to grab more territory.

At first, I didn’t understand

My husband grew up in rural northern Alberta, on a farm near the small town of Edson. His family worked hard to make ends meet, trying to farm on the rocky soils of the foothills. He was surrounded by a large, extended family.

It is clear to me now that no one gave much thought to the difficulties certain family members had lifting things over their heads or keeping up with others as they walked. On a farm you just get on with it and do the best you can.

The progression of FSH is usually slow. In most cases, no symptoms appear until the second decade of life for men or the third decade of life for women.

I thought it was odd that my husband insisted on buying luggage that fits beneath the seat in front of him on an airplane. I see now that it is uncomfortable to have to rely upon the kindness of strangers to hoist a carry-on bag into the overhead compartment.

I did not give much thought to my mother-in-law being in a wheelchair, perhaps because the chair had merely replaced the walker that had preceded it. Her legs no longer allow her the freedom she once enjoyed.

I remember the day nine years ago when she told me she did not want to scare me, but that she had been just like my husband was at his age. Free of symptoms.

Her brother, who still lives on the farm, is symptomatic. He has the foot drop. It impacts the front of his foot, causing it to drag on the floor, a common manifestation of the disease and precursor to the winging shoulder blades that result from deterioration of the scapular muscles.

I thought it was odd that Neil made up excuses for not wanting to hike as we had always enjoyed.

I took special note on a trip to London, England. He would suggest taking the subway across town instead of walking, as I wanted. I argued that walking was the only way to really see the city and the people.

My husband now wears a, “Blue Rocker” — a form of leg and foot brace. It consists of a flexible solid plate that goes into the sole of a shoe. The plate is connected to a plastic extensor that runs up the ankle to the mid thigh. The contraption is strapped to his leg with Velcro strips.

The Rocker forces the sole of his foot up with every step. It successfully battles the leg muscles that prefer to allow the foot to drop and drag. It allows the bearer to walk without fear of stumbling. It is a miracle.

I thought it was odd that my husband never picked up or carried our cats. He loves the cats and they love him. He would call me to move them from the best seats in the house.

My husband’s nephew, a stay-at-home young father of two children under the age of three, is in a wheelchair. Certain cousins struggle to walk, others do not. But they all wait.

Hereditary disease is impossible to ignore.

Knowledge is power

FSH is associated by genetic testing with the deletion of 3.3-kb repeats from a chromosomal tandem repeat called D4Z4 located at the end of chromosome 4 at the 4q35-qter location.

I now actually know what that means.

Muscles are somehow wrongfully programmed at the genetic level and do not replace their dying cells in the fashion that we all take for granted.
Research is ongoing to understand the precise genetic, biological, chemical and physical mechanisms of the disease. Genetic counseling can now help affected families determine whether procreation is right for them.

My children had a different father — making the difficult reproductive question moot for me. I do not know what I would have decided if life had foisted that most cruel decision upon me. Such a personal choice must bring much anguish.

I thought it was odd that my husband would refuse to wear a wool overcoat to combat the winter blasts. For Christmas, I bought Neil a new down coat that he can more easily manoeuver past his weakening shoulders.

It is clearly odd that Neil and I chose for a long time not to discuss these peculiar truths of FSH. Not discussing the truth allowed me to avoid the inevitable and allowed Neil to retain his hold on the present.

But knowledge brings with it power and understanding and a certain resiliency. Now we just get on with it and do the best we can.

How have you dealt with the struggles of FSH or muscular disability?

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