More cash needed for rare diseases

A proposed fund for treatments of rare diseases will not be enough to provide treatment for Kiwis with such illnesses, a health group says.

Pharmac, the government agency that decides on behalf of District Health Boards which medicines and products are subsidised for use in the public health sector, released a discussion paper last week proposing a fund of up to $5 million a year for high-cost medicines for rare disorders.

However, Lysomal Diseases New Zealand chairman John Forman said the proposed funding was a long way from the $20m–$25m a year the organisation estimated would fund all rare diseases with available therapy.

"The amount they are looking to put into this area is hopelessly inadequate," he said.

Aucklander Samantha Lenik, a mother of two, was diagnosed with Pompe disease in January and is one of nine New Zealanders with the condition.

While some sufferers had been selected for clinical trials others remained untreated.

Pompe Disease is caused by an enzyme deficiency that results in muscle damage.

An enzyme replacement therapy (ERT) treatment called Myozyme became available in 2006 and 45 countries provide it with government support. New Zealand and Australia have chosen not to.

Costs vary according to a patient's age, weight and severity of illness, but the ERT for Pompe costs about $500,000 a year per patient, Lenik said.

Left untreated, Pompe leads to muscle weakness, respiratory failure and death.

The 39-year-old Lenik said she was "angry and frustrated" she could not access treatment.

Lenik, who is from Britain, said she moved to New Zealand for the "fantastic opportunities for growing and for opening doors for people".

"I definitely feel like I've had a door slammed in my face," she said.

Lenik said she could no longer run and suffered from lower-back problems and muscle weakness.

It was unclear how much longer she would be able to "get around" without ERT as the disease affected people differently.

But without the ERT it was "highly likely" she would not live to see her five-year-old daughter and seven-year-old son finish high school, she said.

Lenik flew to Wellington last night to attend today's Pharmac open consultation on the proposed $5m high-cost medicines for rare disorders fund.

"It's a step in the right direction but it's a small step," SHE SAID.

The open consultation coincides with the first annual International Pompe Day, to raise awareness of the disease.

Pharmac chief executive Steffan Crausaz said medicine suppliers could contest for the fund, creating competition among suppliers, reducing the cost of medicines, and improving access to treatment.

Pharmac was responding to concerns from patients about access to treatments for rare diseases, Crausaz said.

The $5m came from money put aside for the $8m exceptional-circumstances policy that was unlikely to be used.

The new fund would not affect money for new medicines for conditions that were not rare, Crausaz said.

Pharmac said it intended to request commercial proposals by the end of the year, with funding starting early year.


A degenerative and incurable condition with symptoms similar to muscular dystrophy. The inherited metabolic disorder is caused by the lack of an enzyme that breaks down glycogen in the body, causing a buildup in certain cells.

That buildup, especially in muscles, impairs their ability to function normally. If untreated, it causes heart and respiratory failure in infants.

For adult sufferers, it leads to progressive muscle weakening, problems with breathing and swallowing, and death. Pompe is also known as glycogen storage disease type 2, and acid maltase deficiency disease.

There are only nine known sufferers in New Zealand.