- 12 months ago
10 March 2023
All three McGoram brothers were unlucky in the lottery of life in that they inherited a faulty gene that resulted in them developing Fabry Disease, a genetic condition that causes the thickening of their heart walls and results in issues such as difficulty breathing, atrial fibrillation, and eventually an early death.
Yet two of the three brothers – eldest Tom and youngest Simon – live in Australia where treatments for Fabry Disease are listed on the Life-Saving Drugs Program (LSDP), meaning they live a relatively normal life. The middle brother, James, lives in New Zealand and has no access to funded treatment. As a result, James’ health is deteriorating rapidly.
“Over the last two or three years, the degeneration of my abilities seems to have sped up, or at least that’s the feeling,” 46-year-old James told MedNews. “I used to run marathons and compete in martial arts but right now, I’m struggling to walk up a flight of stairs.”
On Tuesday, the brothers appeared before Pharmac’s Rare Disorders Advisory Committee as it considered funding applications from a number of companies, including Takeda’s REPLAGAL (agalsidase alfa) and Amicus’ GALAFOLD (migalastat) for Fabry Disease. Takeda first applied for funding in 2009 but Pharmac says the company has submitted new information.
This week’s meeting was the first time patients were invited to give evidence before the committee, with the brothers providing an almost perfect example of the Tasman divide – where two who live on one side of the sea on a big island have funded access to effective therapies while the one on the other side on a smaller island does not.
Symptoms for all three brothers came on in their late 30s after they had settled, married and had children, and when relocating their lives was not so easy. Raised in New Zealand, the eldest Tom, aged 50, and Simon, aged 40, set up their lives in Australia and started on Replegal when their symptoms appeared.
While Tom and Simon get free access to their treatments, James would need to pay several hundred thousand dollars a year. While moving to Australia would also give him funded access due to reciprocal arrangements between the two countries, he chooses to stay – for now – but time is fast running out.
“The obvious option is to sell my house and business here in New Zealand and move to Australia to seek treatment there,” James says, which would also involve his wife and teenage daughters migrating but as “many people here don’t have that option”, he wants to change the system instead.
As his health deteriorates and his lifestyle diminishes, James has been forced to give up the many community sport activities he loves, instead focusing his fight on implementing systemic change that would mean people like him can continue to live and work in New Zealand rather than being ‘medical refugees’ in Australia.
“It almost feels like a lottery, whether you can find a way to get access here,” he says. “We really need a more structured approach. We need certainty. We know this therapy is there and we know it works. We know my condition is treatable if I can get access, so it seems madness not to fund it.
“I’m worried at the moment that my symptoms are getting worse and the next five years are going to be extremely difficult. We found out about this because our uncle died at 58, and I’m now 46.
“I’m costing the health system because I’m in and out of hospital all the time and I’m only going to cost it more as my symptoms progress. The bright spot is that we were allowed to make a submission before the committee this week. It was a small window of opportunity to get the committee to take into account the human impact, not just for me but the entire community.
“In many ways this is as good as it gets for a comparison, short of us being triplets. We show how treatment makes a huge difference. Tom has now moved from ERT to another therapy but he is out there, involved in work and life and supporting his family as I step back.
“Simon hasn’t even developed symptoms yet but we’ve been a roadmap that showed putting him on ERT early works. We’ve got a good understanding of the different kinds of treatment and the impact they can have.”
When it comes to the future, James is hoping Pharmac will agree to finally fund a treatment that has been available in Australia since 2010, with a back-up option of potentially getting a place on a clinical trial for a gene therapy. Both AvroBio and Sangamo Therapeutics have therapies in development that are being trialled in Australia but for James, time is fast running out.
“Delays of any length of time mean a loss of ability and loss of life,” he said. “It’s challenging, and we want Pharmac to hurry up and actually fund things.
“Pharmac seems to respond really quickly when there is a bit of media attention but this is not a sustainable or a sensible approach. That’s why we are spending so much time talking to Pharmac and to health agencies, as well as the Maori Health Authority, about how we can actually build in a more strategic approach to making decisions earlier.”
Pharmac says the latest Fabry Disease applications include new information, but the wheels of Pharmac are notoriously slow. Whether a decision will be made in time for James is yet to be seen, but he remains optimistic.
“I’m hoping either the trial or the funding will come through in the next year or two because I’m at crunch time in terms of how much this disorder is affecting my ability to participate in life, to be able to work,” he said.
When it comes to how long he has before he must cross the Tasman permanently, “we’ll have to make that call soon” he says.
*Rare Disorders New Zealand (RDNZ) is the leading patient advocacy group fighting for access to effective patients for patients like James.