Treatment funded in Australia, but NZ brother misses out
James McGoram and his mother Liz Hunt were diagnosed with Fabry disease about eight years ago.
A coroner's report published after his uncle's death suggested he may have had the disease and it was recommended the family get tested.
It was later confirmed that McGoram, Hunt and about 10 family members, including McGoram's two brothers, had the disease.
"To be told we have a serious illness and not really have any symptoms to express, it's a little bit unreal," McGoram said.
Fabry disease, which affects only 35 people in New Zealand, results from the build-up of a type of fat in the body's cells, according to the New Zealand Organisation for Rare Disorders (NZORD).
It can cause potentially life-threatening complications, such as progressive kidney damage, heart attacks and strokes.
McGoram, who lives in Avondale, said although the disease was yet to affect his day-to-day life, he was starting to have problems with his heart.
He had an MRI scan booked later this month at Auckland City Hospital.
"What we are doing is monitoring the progress of the damage that is being caused," McGoram said.
"It is going to be an ongoing problem. I'm in pretty good shape and pretty healthy right now but it's one of those things where there's a certain inevitability."
Enzyme Replacement Therapy (ERT), a treatment that can halt the progress of Fabry disease by replacing faulty or missing enzymes, is used in about 30 countries worldwide.
But while it is available to McGoram's brothers in Australia, he cannot access it in New Zealand.
The treatment for Fabry disease is funded through the Australian government's Life Saving Drugs Program.
He said he wanted it to be available in New Zealand so he and others living with it could slow down the disease's progress.
"It would certainly mean that I wouldn't have to face more life-threatening consequences in the future," McGoram said.
Pharmac is currently inviting pharmaceutical suppliers to submit funding applications for medicines for rare disorders.
McGoram said although it would be challenging to get it approved, it was positive to see Pharmac seeking bids for rare disease treatments and he hoped ERT would be accepted.
Pharmac's director of operations, Lisa Williams, said the organisation had received applications to fund ERT twice in the past but they had been declined.
"Our expert clinical advisory committee recommended the funding be declined because the evidence provided didn't demonstrate sufficient benefit to justify funding," WIlliams said.
Pharmac didn't have prices from suppliers for the treatment but said medicines for enzyme replacement disorders cost hundreds of thousands of dollars per patient, per year.
However, Williams said Pharmac would welcome new information about pricing and effectiveness of treatments for Fabry disease as part of its application process.