Fight for funds to help boys live longer

TO have one child whom doctors predict may just about survive to his 21st birthday is devastating, to have two is unimaginable.

Yet this is the unenviable situation John Gorman and his wife Anne Ebeling, from Celbridge, Co Kildare, find themselves in.

Their children, Lucas, 5, and Noah, 3, have been diagnosed with Duchenne muscular dystrophy (DMD), a progressive, debilitating, muscle-wasting disease where the average age of Irish survivors is in the range of 18-22, one of the shortest in Europe.

Because the condition is rare — one in 3,500 boys, and much rarer in girls — it was difficult to get a diagnosis, but Anne persisted, instinctively knowing something was wrong.

Despite reassurances from nurses and doctors that the boys’ odd gait — a tendency to walk on their toes — was a result of being flat-footed, Anne carried out her own investigations on the internet.

Within minutes of googling “toe-walking”, she came across DMD. Other symptoms tallied with the boys’ actions — clumsiness and falling over quite easily, difficulty getting up the stairs, and a habit of walking their hands up their legs in order to stand up, a classic DMD symptom known as Gower’s manoeuvre.

A clinical diagnosis followed last November and since then, the couple have educated themselves about the condition and are doing all they can for their boys.

This involves up to an hour-and-a-half of physiotherapy each per day, mainly carried out by Anne, while John devotes his energy to trying to build up the profile of the condition nationally so that the Government will provide funding and recognition.

There is a trial ongoing in Britain, called the Exon Skipping Trial, which John says offers the best hope in 30 years to DMD sufferers.

It could reduce the severity of the condition and prolong life expectancy — in Denmark, the average lifespan is 37.

He said: “Two-and-a-half years ago, the Government told Muscular Dystrophy Ireland it agreed in principle to funding, now they have sent us back to the Health Research Board. We need to get services in Ireland allied with the rest of Europe, there is such discrepancy in lifespans. We need to get our kids on to the Exon trial — agreement to register for trials in Britain has been agreed, but we have no funding. If the Government fails to take action, it will have ignored a generation of children.”

Muscular Dystrophy Ireland is holding its first ever information day on the advances in care of DMD tomorrow, March 2, in the Clarion Hotel, Liffey Valley, Dublin. For more information log on to www.mdi.ie