Rare disease sufferers want pricey treatments

16:00, Feb 28 2013
Freda Evans, of  Papatoetoe, Auckland, left and Allyson Lock, of Masterton, have Pompe disease.
RARE AFFLICTION: Freda Evans, of Papatoetoe, Auckland, left and Allyson Lock, of Masterton, have Pompe disease.

While Masterton mother Allyson Lock is reaping the benefits of flying to Brisbane every fortnight for a drug trial, fellow Pompe disease sufferer Freda Evans languishes in Auckland, still trying to get medication funded by Pharmac.

Rare-disease sufferers say it is evidence of the unfairness and discrimination they feel as Pharmac repeatedly refuses to fund expensive and potentially life-saving drugs.

"They're playing with my life and that's not acceptable," said Mrs Evans, 58, a kohanga reo administrator.

"All I'm saying is give me a chance. If it doesn't work, or give me a better quality of life, then take it off me."

Advocates for those fighting to access expensive drugs say decisions around funding should be taken out of Pharmac's hands and placed under the Ministry of Health.

Placing greater importance on moral factors rather than cost was needed, Organisation for Rare Disorders executive director John Forman said.


Replacing Pharmac's three exceptional circumstances schemes with the Named Patient Pharmaceutical Assessment last March made it harder for rare-disease patients to get a "fair hearing", he told a rare-diseases seminar in Wellington yesterday.

"The criteria changed, so rarity was no longer a prerequisite, but they also made it practically an exclusion [criterion]," he said.

Pharmac medical director Peter Moodie said more applications were being approved under the new scheme and $1 million was spent on approvals between March and October, which did not include ongoing treatments already funded.

It had a provision of $8m to ensure new applications and ongoing treatment could be funded, Dr Moodie said.

A 2010 report on access to high-cost, highly specialised medicines was commissioned by Health Minister Tony Ryall and recommended against prioritisation processes and pools of funding for these drugs.

Mr Ryall said yesterday that a separate scheme had been established within Pharmac, called NPPA, which was providing more people with funding for specialist medicines.

The Government had invested $180m more into Pharmac in its first term, he said.

About 8 per cent of the population has a rare disease and about 3 per cent has treatment available.

Muscular Dystrophy Association chief executive Chris Higgins said its 1000 members were starting to feel discriminated against. "It seems if you've got a rare condition you don't get the same consideration by the health system as other people. Access is a vain hope, not a reality."

The association, representing people with 40 rare neuromuscular diseases including Pompe, had lost confidence in Pharmac providing high-cost medicines, he said.

Six people are known to have Pompe disease. Four receive treatment overseas on clinical trials.

Pharmac has refused three times, including once under the new scheme, to fund a drug called Myozyme. It would cost more then $300,000 annually in Mrs Evans' case and possibly stabilise her symptoms.

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

The Dominion Post