Muscular Dystrophy Ireland has again expressed its disappointment at a decision by the HSE not to fund a life-changing drug for children with Duchenne muscular dystrophy.

According to the charity, some of the families involved are considering emigrating to countries where their children will receive the drug.

There are around 30 types of the neuromuscular condition, muscular dystrophy. Duchenne is the most common and most severe type, mainly affecting boys. It affects around one in every 3,500 male births and usually boys with the condition lose their ability to walk between the ages of 10 and 14. By their late teens, they tend to lose strength in their upper bodies, including their arms.

The progressive muscle weakness associated with this condition also leads to other serious health issues, such as heart and lung problems.

Translarna is an innovative treatment for people with a certain type of Duchenne muscular dystrophy. Specifically, it is aimed at those whose condition is caused by a particular genetic defect - known as a nonsense mutation in the dystrophin gene - and who are aged five and older and still able to walk.

It is currently available and being prescribed to boys in more than 22 European countries, with some of these receiving it since late 2014. It has also recently been made available in Northern Ireland and England and is the first Duchenne-targeting treatment to receive conditional marketing approval by the European Medicines Agency (EMA).

Last year, the National Centre for Pharmacoeconomics (NCPE), which facilitates healthcare decisions on the reimbursement of treatments using clinical and scientific evidence, decided not to recommend Translarna for reimbursement here.

Since then, discussions have been taking place between the makers of the treatment, PTC Therapeutics International Limited, and the HSE. However, the HSE recently decided not to fund the drug.

Speaking on World Duchenne Awareness Day (September 7), the CEO of Muscular Dystrophy Ireland, Richard Lodge, said that this decision has been ‘disappointing and frustrating for the families involved'.

"A limited number of patients will benefit from this drug, if reimbursed, so while the individual cost of the drug is high, the budget impact is relatively low. Some of the families involved are seriously considering emigration to get the best possible care for their sons," he commented.

The charity is calling on the Minister for Health to intervene, ‘to ensure that Irish boys that desperately need this therapy receive it without further delay, and have the same opportunities as other children across Europe'.

"It would appear that Ireland's decision not to reimburse for Translarna is at odds with regulators, health authorities and experts across Europe. Would this imply that the European Medicines Agency and the 22 other European Countries have all gotten it wrong? Or is it just that we are behind the curve?" Mr Lodge asked.

Also speaking about this issue, Anne Marie Harte from Castlebar in Mayo, mother to five-year-old Lewis who would benefit from Translarna, described the situation as ‘simply agonising'.

"It is so unfair knowing that there is a treatment out there that can help our son, but it is being denied to him. This is a race against time that we don't have," she said.

For more information on muscular dystrophy and the work of Muscular Dystrophy Ireland, click here.