Access to costly but life-saving treatment for rare diseases comes down to looking cute on TV or knowing a politician, sufferers say.
Allyson Lock is one of only eight Kiwis diagnosed with Pompe disease, an incurable degenerative disorder. Untreated, it can be fatal, but Mrs Lock of Masterton and other sufferers have been refused treatment because of its cost.
A medication called Myozyme is available, but it is expensive and gets no funding from government drug-buying agency Pharmac. Costs vary according to a patient's age, weight and severity of illness, but in Mrs Lock's case have been estimated at $575,000 a year.
She said patients with similarly unusual illnesses had obtained funding for expensive treatment, which was unfair. "They say it's too expensive, but there are other treatments that cost more. If your family can get you on TV, if you're a little kid, if the public gets into an uproar, you get funded. That's what it comes down to."
Mrs Lock had an application for "exceptional circumstances" funding for Myozyme turned down in 2011 and said the funding system was flawed and inconsistent.
"They've put a price on our life, and they don't want to pay for it . . . you're made to feel guilty for needing an expensive treatment."
Mrs Lock, 49, a mother of three, suspected that support from politicians had helped sufferers of similar conditions requiring expensive treatment, such as Gaucher's disease and Hunter syndrome, to get funding.
But Health Minister Tony Ryall said Pharmac was advised by senior doctors when making funding decisions, and politicians were not involved.
Since gaining a place on a treatment trial funded by drug giant BioMarin, Mrs Lock has flown to Brisbane every fortnight for almost two years to receive the medication intravenously.
With husband Steve's navy job allowing him to work from home and care for sons Josh, 10, and Ben, 12, she had become such a well-known traveller that Auckland hotel staff gave her a cookbook to mark her 50th trip away. She still had another 80 of the 5500km round trips to go, which she said was a strain on the family.
Fellow Pompe patient Freda Evans, 58, did not qualify for the trial, which involves Mrs Lock and three other New Zealanders, because her lung outflow was too low. Mrs Evans said government funding for Myozyme was her "only hope", but she had had two funding applications denied and had complained to the ombudsman about Pharmac's conduct.
New Zealand Organisation for Rare Disorders executive director John Forman raised the prospect of legal action against Pharmac's funding refusal, and said it was unacceptable every other developed country was treating its Pompe patients, except New Zealand.
Decision-making about expensive drugs for rare conditions, known as "orphan drugs", should be taken out of Pharmac's hands because the agency was designed to save money on bulk medicines, and it was not complying with its human rights and public health obligations in its decision-making about rarer drugs, he said.
Pharmac chief executive Steffan Crausaz said the agency stood by its decision not to fund Myozyme because of its cost and doubts about its effectiveness. In a December response to the organisation, Pharmac invited it to a discussion about its concerns, instead of taking legal action. Mr Forman said it would consider its response in the new year, but legal action remained an option.
WHAT IS POMPE DISEASE?
A degenerative and incurable condition with symptoms similar to muscular dystrophy. An inherited metabolic disorder, it is caused by the lack of an enzyme that breaks down glycogen in the body, which causes 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 eight known sufferers in New Zealand.
- © Fairfax NZ News
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