James McGoram is the Chair of Rare Disorders New Zealand.

People living with a rare disorder are in a precarious position in our society; often struggling for awareness, visibility, and equitable treatment.

Sometimes the task of advocating for these rights can be overwhelming, because behind every statistic, every number in a report, is a real person and a family struggling with the impact of disease or disability. The stories that The Medicine Gap has shared really drive this home for me. They make for confronting reading.

I think about the individual nature of these stories a great deal when I’m looking at the public health effects of our country’s rare disease policy (or more accurately perhaps, the lack of it). After all, I’ve been one of those stories, as have many of the people I love. It is with frustration and often a deep sense of sadness that I dwell on the missed opportunities for treatment, and the personal tragedy each failure represents. At such times solving the problem seems to be simply too hard.

As it so happens ‘too hard’ also appears to be the attitude adopted by many officials in regard to funding modern medicines. I have previously described this failure to fund treatments as evidence of an institutional lack of empathy and imagination, and I’d like to explain why.

I’m writing this article while stuck in lockdown due to the Covid pandemic. My cardioversion procedure for the atrial fibrillation I’m experiencing has been postponed, yet again. Though I’ve experienced it before, this abnormal heart rhythm is deeply disconcerting, adding to the anxiety of an already difficult time. It’s a symptom of the damage being done to my heart by Fabry disease, a rare genetic disorder that runs through my family and for which there is no available treatment in New Zealand.

It was while I was in hospital receiving care two years ago and struggling with this fact that I connected with Rare Disorders New Zealand (RDNZ) and offered to do some fundraising – never realising I would find myself thrust into advocacy at a national level.

RDNZ is an organisation that exists to amplify the collective voice of the rare disorder community. Our committed staff, backed by countless volunteers and the large network of support groups that comprise our collective, seek to improve healthcare and wellbeing for people and their whānau living with a rare disorder. While funding for modern medicines is not the only issue we grapple with, it is a crucial one, as people with rare disorders very often bear the brunt of this gap in our healthcare.

In my own case, there are treatments that would slow or halt the progress of Fabry disease. They will not cure me, but they will improve the length and quality of my life. I know this because members of my family who live in Australia and the UK, and who have the identical gene that causes this disorder, receive these treatments.

We get to compare notes, and I have the privilege of being their unwitting control group. To my friends I’ve sometimes described my quest for treatment as a game of chicken – at what point do I flinch, and leave the country I love to seek treatment in Australia?

Such a solution sits uneasily with me, however, as even though it offers a possible treatment path for me – and my children – it does little to address the systemic inequity of care faced by others with a rare disorder. The fact that I have the privilege to be able to leave is the luck of the draw. These deep-seated challenges are not solved by a single drug, a single breakthrough, or a single Givealittle campaign. They require instead a system-wide change of mindset.

As a cure for this sense of unease I often wonder what it would be like if we could find our way past this block. What if we jumped ahead in time, if we used our imagination, just for a few minutes, to consider the world we’re trying to create?  For me such a world would mean that regardless of your condition, regardless of the cost of treatment, you would be guaranteed equitable care.

No one chooses to have a rare disorder, and no one should be treated as unworthy of care just because they are considered ‘too hard’ to fix.

For me this is the ‘failure of imagination’ that I described as inherent in our health agencies: this blind acceptance that this is just the way the system is, and is the only way it could ever be. Our health agencies are failing the rare disorder community because they cannot see this alternative future, a future in which all people, no matter how rare their condition, receive the same care. And the failure of empathy? Being unable to acknowledge that for our society to reach greater equity in healthcare the system must change, and it must begin now.

Medicine funding is of course only one aspect in a complex system, but by thinking creatively about our goals as a society we can begin seeing the steps needed to achieve them. Funding for research into rare disorders, better education and improved diagnosis, community support and access to treatments all feature strongly in this roadmap. But it is this last point that is the public flashpoint of debate, perhaps because it seems the most unjust – the idea that life-saving treatment exists but is held just beyond our reach. It’s an injustice I’ve had the questionable privilege of experiencing firsthand.

Modern medicines for rare disorders can be expensive, and the ethical challenges of the pharmaceutical industry have a long and storied history. But people with rare disorders don’t need the cost of medicines explained to them. Like many of us, I’ve had a healthy scepticism about drug companies for many years, and as a collective group we are intimately familiar with barriers to accessing treatment.

Pharmac, of course, has the potential to be a crucial ally in tackling these barriers, but unfortunately, through its opaque processes and inadequate funding, it often ends up taking on the role of the great adversary. One of our earnest wishes, as a group, is to see this situation begin to change with the current Pharmac Review.

It’s not just the funding itself, but the method of allocating funding that cuts deep with the rare disorder community. Taken individually, rare disorders are always the exception: we are the expensive edge-case. When compared to medicines that treat many thousands of people at a time, rare always finds itself on the losing side of the equation. It is the ‘trolley problem’ writ large: the idea that the needs of the many outweigh the needs of the few.

But this is a false dichotomy – or perhaps put more simply – it’s comparing apples with oranges. Instead of pitting the majority of people against those with a rare disorder, we have the power to choose alternative methods of medicine assessment that treat rare and common illnesses equitably. The real question is why we’re not doing this already.

Right now we are tackling each disorder individually and we’re creating a slow-burning health crisis.

Collectively there are at least 300,000 people living with a rare disorder in our country, and as our diagnostic tools and scientific understanding of such disorders improve, this figure is likely to climb.

Ignoring or disregarding rare disorders, and refusing to engage with the treatments that do exist will not make them disappear.

We owe it to ourselves to change the way we fund modern medicines, and the way we consider funding for treatments in general. There is a brighter, more hopeful alternative to the philosophy of scarcity that we live and die with today and where our health agencies lack the imagination or empathy to see it, it is up to us to show it to them.

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