One in every thousand Australians is affected by neuromuscular disorders, which involve the progressive and irreversible wasting of muscle tissue. Wendy Champagne investigates.
Ryan Struk was a little different than the other kids at the playground; it was nothing really obvious but his parents were concerned by his lack of coordination and jerky movements - at two and a half he was already severely pigeon-toed.
Ryan's parents took him to see a doctor, then another and another. For fourteen months they visited countless paediatricians and orthopaedic specialists. They were labelled neurotic parents on more than one occasion and were offered little in the way of medical advice about Ryan's problem.
Finally they took Ryan to be fitted for corrective shoes; perhaps being pigeon-toed was the cause of his imbalance. "I've got a good mate over at the children's hospital I think you should see," the shoemaker suggested. They did, and Ryan was diagnosed with Duchene Muscular Dystrophy.
Boris Struk, Ryan's dad, is now Director of the Muscular Dystrophy Association of Victoria. "We went back and thanked Mr Murray the shoe specialist," he remembers. "He told us he knew it was Muscular Dystrophy (MD) but it wasn't his place to say."
Duchene Muscular Dystrophy is one of over 60 neuromuscular disorders (NMD's) which involve the progressive and irreversible wasting of muscle tissue. One in every one thousand Australians is affected by NMD, and each disease has a separate cause.
Ryan's disease, Duchene Muscular Dystrophy, is the most common childhood NMD even though it affects only males. The root cause of the disease is a defect on the dytrophin gene that makes the muscle protein dystrophin.
Over the past 18 months, Dr Robert Kapsa and his colleagues at the Melbourne Neuromuscular Research Institute have concentrated on trying to reverse the dystrophin gene mutations, paving the way for present day sufferers to find some relief from the onset of the disease. In February this year they made their first major breakthrough, correcting the defect in the leg muscles of a dystrophy-affected mouse.
The symptoms of Duchene dystrophy manifest in boys anywhere from two to six years old. By about 1o years old, one hip is higher than the other because they favour one side and the boy's spine will be bent over to the side and his lungs compressed. "They are essentially hump-backed," says Boris Struk, "because physically they don't have the muscle power to keep themselves upright."
Anywhere from eight to twelve years old a sufferer will become wheelchair-bound. His bent spine causes severe danger to his breathing, so he will have to undergo an operation where a steel rod about the size of a car aerial is fused to the base of the left hip, up one side of the spine to the neck, and down the other side to the right hip. From now until his death, generally by the age of 22, the child is held upright by that steel rod.
Apart from funding the Research Institute and educating the public, most of the work done by Boris Struk at the Muscular Dystrophy Association involves providing support and service for the sufferers and carers of people with muscular dystrophy.
Many of the programs place patients in week long recreational camps together with full-time carers secured from nursing, physiotherapy and human movement courses. "It offers the students invaluable training and allows the kids to develop strong friendships with people their own age. And for the parents it means a week's worth of uninterrupted sleep!" says Boris Struk.
Children with muscular dystrophy require close and intense caring. "You have to help them with everything," says Boris Struk. "Lift them out of bed, take them to the toilet, wipe their bum, place them in and out of their chair, feed them. By twelve years old they don't have enough strength to lift their arm to scratch their ear or pick their nose."
In the course of one night, parents or carers can expect to get up at least five times. "You hear a groan," says Mr Struk, " his arm may be cramping and he needs to turn over, or he may have trouble breathing and you need to clear his passages."
So far Ryan continues to defy the odds. He recently celebrated his twenty-first birthday and completed the first year of an arts degree at La Trobe University in Melbourne. And although the latest discoveries at the Institute offer tangible hope for young sufferers of the disease, they will not affect children of Ryan's age.
"That's the sad thing about it," says Mr Struk, "and I speak for all the kids. They are no different to you or I; they have the same dreams, hopes and aspirations. It's just that they're trapped in a body that's getting progressively weaker."
References: Boris Struk and Alan Quaife at the Muscular Dystrophy Association 03 9370 0477, mda@mda.org.au Melbourne Neuromuscular Research Institute: Dr Robert Kapsa
Reprinted with permission from Editforce
