Although it’s a time of great change in our health sector, a significant population group continues to be excluded from the decision-making process. James McGoram, an advocate for those living with a rare disorder, asks: “Why are we being left out?”
The last couple of years has seen us stare down a global pandemic, set-up a very public and emotional review of our drug buying agency, initiate sweeping changes in the way we deliver healthcare, and establish the Ministry for Disabled People. For those interested in health and disability issues it has been an absolute rollercoaster.
Of course, I don’t imagine everyone spends their spare hours following developments in health and disability policy – not exactly a great hit at dinner parties. But as an advocate for Rare Disorders NZ, and someone who lives with a chronic illness, I’m one of those annoying people forever bringing it up.
What is a rare disorder? In New Zealand we define it as an illness that affects fewer than one in 2,000 people. They are very often genetic. One group you might have recently heard of in the news is those with cystic fibrosis who’ve been fighting for funding for a new treatment called Trikafta.
I was in my mid-30s when I learned that, along with my brothers, I had the rare disorder Fabry disease. It runs through our family, and I have uncles and cousins around the world who see first-hand how different countries manage rare disorders. I can say, unequivocally, that New Zealand is being left behind.
A Unique Problem
The problem, I sometimes reflect, lies in the name which implies rare disorders are uncommon, as though they’re the exception to a rule. My own disorder, for instance, presents in only one in 60,000 men.
But here’s the thing: there are thousands of rare disorders, and they add up fast. An estimated 300,000 people are living with a serious rare disease in New Zealand, and when you include families and caregivers, as much as 30% of our population either have a rare disorder or live with and care for someone who does. Half of those 300,000 are children, and many will not survive to be adults.
I think about this a lot. I’m a father, and my daughters carry the gene for my illness. How lucky am I, I think, that my particular genetic disorder will unlikely affect them with any severity. I speak to so many other parents who cannot say the same. It gives me a sense of responsibility and purpose to amplify their voice, and to seek change in our healthcare system.
Some rare disorders cannot yet be ‘cured’, and we must recognise that creating pathways for treatment and care look different for different people.
Tackling Rare Disorders Collectively
Unlike common illnesses such as cancer, rare disorders are considered in isolation rather than as a collective which leads to lost opportunities and neglect. It’s an issue most recently recognised in Australia with the adoption of the National Strategic Action Plan for Rare Diseases.
Last year community advocate Sue Haldane, a mother and caregiver to someone with a rare disorder, presented a petition to parliament on our behalf seeking the establishment of such a framework in New Zealand. Alongside Sue we followed up with both written and oral submissions to the Health Select Committee, supported by many wonderful people from our support groups.
While being congratulated for our advocacy and told that our request was both sensible and worthy, we were also told that nothing would be done about it. The health reforms that are in progress, despite not recognising or including voices of those with rare disorders, are supposed to address our needs. Early indications, based on this lack of consultation, are that they will not.
Finding Answers to a Basic Question
I often wonder why we are being left out. It’s not posed as a complaint, but a genuine puzzle I want to solve. People – children – are dying while we wait for an effective response from our health system. I can’t understand why we’re not presently getting one.
But what does an effective rare disease response look like? For one thing, it recognises the broader needs of this vulnerable community beginning with better diagnosis, research, and professional education. Some rare disorders cannot yet be ‘cured’, and we must recognise that creating pathways for treatment and care look different for different people. Improving people’s quality of life and access to services is just as important as providing cutting-edge medicine.
In concrete terms, we would like health system reforms to affirm our existence as a population group with specific, unmet needs. We would like decision makers to have no option but to ask themselves: “Have we considered the impact of this decision on those living with a rare disorder?”
We may be rare, but we’re not uncommon. It’s time our health system recognised us as such.
Head to raredisorders.org.nz for more information, and the whitepaper, Voice of Rare Disorders 2022.
Words — James McGoram
