Fighting for a diagnosis


His parents always suspected there was something wrong, but it took until he was 21 for them to get a diagnosis, writes JOANNE HUNT

IF YOU feel there is something not quite right about your child’s health and yet medical experts repeatedly disparage your fears, what do you do?

For one Dublin father for whom it took 12 years to gain a diagnosis of his son’s rare muscular disease, persistence paid off.

Though wishing to remain anonymous lest the diagnosis impact on the career of his son who is now in his mid-20s, this Dublin dad is determined to tell his story so that other families might benefit.

“We brought him to football training when he was seven and we noticed when they were running around the pitch that he was lagging behind the other children by a good distance,” he recalls.

Though surprised, he and his wife thought perhaps football just wasn’t his thing.

“We hadn’t noticed anything before that, but when we asked him about it, he said that on junior scouting trips he would lag behind the other kids to the extent that they would disappear off into the distance.”

Accompanying his son, by now aged nine on a youth club hike to Carlingford, his difficulty with exertion was hard to ignore.

“The rest of the kids started to hike up the hill but he went 20ft and he said ‘I can’t go any further’.”

Referred by their GP to a gastroenterologist, various checks and blood tests drew a blank.

“The phrase that the consultant used, and we’ve never forgotten it was ‘maybe you should put a bag of sweets at the top of the stairs’.

“The implication was that he was lazy, or couldn’t be bothered.”

In primary school, a sports trainer said “his granny could run faster than him” and in secondary school, timed laps of the gym with classmates were a non-runner.

With a number of young people dying from sudden adult death syndrome at the time, his parents worried about his heart, though all the tests were coming back clear.

Various heart, liver, lung and blood tests throughout his teens revealed little of note and when aged 17 he completed a lying-down stress test (lying on his back while pedalling), the consultant’s advice to his mum was “not to worry, that fella could enter the Olympics”.

His father admits it was a confusing time. “You start to doubt yourself. You start to wonder and say, maybe there is nothing wrong here. Maybe there isn’t a problem. But then every so often something would happen, he’d cycle for a few minutes outside the house and he’d come back white as a sheet.”

When his son, aged 21, noted calf muscle pain in a further stress test, it prompted the consultant to order a muscle biopsy. Eight months later, a rare condition, McArdle’s disease, was confirmed.

“It was a total relief,” says his father. “We were concerned all the time about sudden adult death syndrome. When they told us McArdle’s wasn’t progressive or life threatening, it was amazing. We’d been going about this since he was seven years old.”

A rare metabolic muscle disorder, affecting just one in 100,000 people, those born with McArdle’s disease are unable to produce an enzyme known as myophosphorylase, which is important for creating a fuel source for exercise.

Those with the disease taking too much exercise can cause muscle damage, leading to myoglobinuria where muscle is broken down and muscle fibres gather in the kidneys leading to renal failure.

Put in touch with the specialist McArdle Clinic at Oswestry near Liverpool, his dad says, “It was amazing for us and for him to be able to share war stories and finally meet other people who have the same condition.”

Taught how to manage his condition, his son lives a normal life. “He now knows what he can and can’t do. He does quite a bit of walking and he’s pretty fit aerobically but he can’t run.”

With just four people in Ireland diagnosed with the disease, the family feels there must be far more out there. “If the stats are right, there should be 45 people with the disease in Ireland at least, but because the condition is so rare and doctors are unfamiliar with it, they are not being diagnosed.”

They hope that sharing their story will help other families to short circuit the years of misdiagnosis they endured. “If you’re outside the Pale of normal conditions, you’re on your own basically.”

Describing his son’s attitude he says, “I think the word is stoic, he’s handled it all pretty well.”

To the parents of children finding themselves in a similar boat, he has advice: “I would say absolutely persist, you can’t let it go.

“Be prepared to be put off more than once. If you think there is something wrong, there is something wrong. If you do persist you will get to the bottom of it. The bottom line is persistence.”

Just one in 100,000  people are born with McArdle’s disease