Drug trial gives hope to Pompe sufferer
A woman who suffers from a rare disease and has been denied funding for life-saving treatment has been given a lifeline after a gruelling overseas drug trial.
Masterton's Allyson Lock, 47, has been travelling to Brisbane every fortnight since February to receive treatment for Pompe disease, an incurable degenerative disorder.
Although she faces four more years of treatment as part of the drug company-funded trial, early tests show slight improvements in her breathing.
"For a degenerative disease, even if I had stayed static, it would have been amazing," she said.
"The fact that I'm improving is incredible, I'm really stoked."
She was now looking forward to one day seeing her two young sons get married. Before the treatment, she would not have lived long enough to see them finish school. "It's really given me hope again, there's no reason why I can't live as long as the next person."
Diagnosed in 2010, Mrs Lock is one of seven New Zealanders known to have the disease.
If left untreated it leads to increased muscle weakness, respiratory failure and death.
A medication called Myozyme is available in New Zealand, but it costs up to $1 million a year - depending on age, weight and severity of illness - and gets no funding from government drug-buying agency Pharmac.
Last year Mrs Lock spent seven months at a hospital in Florida after gaining a place on a trial-treatment programme funded by drug giant BioMarin.
Four other New Zealanders, including Mrs Lock's twin, Bruce Wells, are involved in the trial.
Mrs Lock has completed about 20 trans-Tasman trips out of 130.
"It takes a lot of effort, but it's well worth it," she said. "I'm kind of sick of it, but I think if I don't go I'm going to die so you just pick up and go. I try and treat it as an adventure."
Pharmac medical director Peter Moodie said Myozyme did some good, but not enough to justify its expense. But Pharmac would be looking closely at any results from Mrs Lock's trial, because the new drug she was taking was hoped to be more effective that Myozyme.
"If there's a new drug, then plainly we're very interested, but we'll have to see the data. But I'm delighted for Allyson if things are going well."
Pharmac continues to refuse to fund drug for grandmother
Freda Evans is praying she will live long enough to see her grandchildren start kapa haka lessons.
The 57-year-old from Auckland was the first New Zealander to be diagnosed with Pompe disease two decades ago.
Since then she has confounded doctors' expectations by living well past an expected age of 40, but her health has recently begun to decline rapidly. Now weighing just 44 kilograms and becoming increasingly frail, she hopes to keep living for the sake of her grandchildren.
"I want to be around to take them to ballet and to kapa haka, or take them to swimming, because those things are meaningful.
"I'm praying for it."
Since the development of the drug Myozyme, she has applied three times to Pharmac for funding without success, she said.
She has now written to the ombudsman to complain about the conduct of the government drug-buying agency.
"How can you tell somebody that their life is not worth it - I deserve a chance," she said.
She has calculated her treatment costs at $330,000 a year.
Mrs Evans was also unsuccessful in two attempts to get into a clinical drug trial because she was too weak to qualify.
Pharmac would not comment on the case because it was before the ombudsman.
The ombudsman is yet to respond to Mrs Evans' complaint.
WHAT IS IT?
Pompe disease is degenerative and incurable 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 can cause heart 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 seven known sufferers in New Zealand.
The Dominion Post