Relief for young Pompe disease patients

The mother of a 13-year-old boy says she's forever grateful that her son has been given access to a costly life-saving medecine that inspired a Hollywood movie.

Christian Rivera was 11 when he was diagnosed with Pompe disease, a rare disorder that results in sugary deposits in muscles and the diaphragm, which causes damage beyond repair.

His mum, Rina Sosa, said the family are elated that the federal government has decided to subsidise the only registered treatment for the disease, Myozyme, under the Life Saving Drugs Program.

Myozyme, which features in the Harrison Ford movie Extraordinary Measures, costs several hundred thousand dollars per patient per year.

The drug manufacturer Genzyme, which is owned by healthcare company Sanofi Myozyme, would not say exactly how much the treatment costs, but said it was in research and development for over 10 years, at a cost of over $600 million.

Christian, who lives in Melbourne, was the first to benefit from the subsidy decision, receiving the medicine earlier in February.

Two young NSW siblings with Pompe disease will also benefit from the decision.

"Christian having guaranteed access to treatment for the rest of his life is something we will always be grateful for," said Ms Sosa.

There are 34 Australians known to be living with the disease, according to the Australian Pompe Association.

The subsidised treatment is only provided to those diagnosed with the disease before the age of 18, which covers seven young Australians.

Another 19 people are on a compassionate access program, operated by Genzyme, and two Australians are on a drug trial with another pharmaceutical company.

Six Australians are still without any access to any treatment.

APA president Raymond Saich, who was diagnosed with Pompe disease in 2002, is one of the lucky ones who receives the drug for free through the Genzyme program.

"Bless Genzyme, they've been wonderful, obviously I can't speak highly enough of them," said Mr Saich.

The federal government said it will work with Genzyme towards a future application and subsidy for Myozyme on the Pharmaceutical Benefits Scheme for adult patients.

WHAT IS POMPE DISEASE?

* It's a rare inherited neuromuscular disorder that causes progressive muscle weakness.

* It's named after Johannes Pompe, a Dutch doctor who first described the disorder in 1932.

* If not treated, Pompe disease breaks down muscles, causes irreversible damage, puts patients in wheelchairs, and leads to respiratory failure and eventually death.