Are rare diseases so obscure that the average Aussie doesn’t need to worry about them?
No, as it turns out, rare diseases aren’t all that rare at all. I know that sounds like an oxymoron, but I promise it isn’t. See, while rare diseases are individually rare, collectively they are quite common. Every rare disease occurs in less than 5 in 10,000 people, but there are so many different rare diseases that approximately 8% of Australians have one. That means 1 in 12 people are living with a rare disease and that practically everyone knows someone with a rare disease.
In total there are over 7,000 rare diseases, with many, but not all, of them having a genetic origin and some being rarer than others. There are some that many people have heard of, like motor neurone disease (MND) or cystic fibrosis (CF), and others that even medical specialists haven’t heard of, let alone treated.
I, myself, am a member of the rare disease community, with not one but two rare diseases. The diseases I live with are both neuroimmune conditions in which my immune system mistakenly attacks the myelin in my nerves. The more common of the two is called chronic inflammatory demyelinating polyneuropathy (CIDP), which occurs in about 50 people per million.
Some Australians might know this as the disease that Olympian Michael Klim has, but most people probably haven’t heard of it. Unfortunately, this is just one example that rare diseases are not part of everyday conversation until a celebrity is diagnosed with and speaks openly about the disease. Of course, this puts a heavy burden on the celebrity diagnosed to raise awareness, but it can also misrepresent rare diseases, as most patients do not have the same resources as celebrities and hence can have very different experiences when it comes to diagnosis, treatment and prognosis.
The other ultra-rare disease I have is called neuromyelitis optica (NMO), and I’m yet to meet anyone who isn’t a neuroimmunologist who has heard of it. About five in one million people have NMO, so there are approximately 135 people in Australia with the disease. As you can imagine, this means that most general practitioners (GPs) will never see a patient with NMO. That causes delays in diagnosis and treatment, a fact which is true for many rare diseases, not just NMO.
These diagnostic delays are dangerous in general and, in the case of NMO, can be deadly. NMO often causes inflammation and damage to the spinal cord, called transverse myelitis, which can be fatal if not treated immediately. The delays in proper treatment do not stop there, though. In my case, as is common, even once I was diagnosed with transverse myelitis and presenting with symptoms of NMO, it was dismissed as a fluke, one-off event by a whole board of neuroimmunologists. Whether it was from lack of knowledge or they just couldn’t imagine I had a disease as rare as NMO, I don’t know, but their lack of appropriate treatment meant I continued to deteriorate for over a year. I had attack after attack, resulting in further damage to my spinal cord and optic nerves, and requiring me to have an ostomy placed. I was finally diagnosed with NMO by a more experienced neuroimmunologist.
Unfortunately, the battle for rare disease patients does not stop once we are diagnosed. The National Organization for Rare Disorders (NORD) estimates that only 5% of rare diseases have any approved treatments. That means that for the other 95% of us, there is nothing approved by the Therapeutic Goods Administration (TGA) for our conditions. However, that doesn’t mean we don’t receive any care. Our specialists will often prescribe treatments designed for other, more common, diseases in the hope that they work for us too.
My case is a great example of this. For NMO, I am now treated with three immunotherapies. One, called mycophenolate mofetil, is designed to prevent organ rejection in transplant patients. The second is a drug called ocrelizumab, which is used to treat multiple sclerosis, and the third is called tocilizumab and is primarily given to patients with arthritis. None of these drugs were ever meant to treat my condition, and yet they are the best options we have. My combination of medications is entirely experimental for NMO, and these medications are used “off-label” as there isn’t enough research on their safety and efficacy for the TGA to approve them. This treatment regime isn’t even standard for patients with NMO. We are all given slightly different medications depending on where we live, when we were diagnosed, our medical team, what our bodies can cope with, and what we respond well to.
A common response when people hear about the lack of treatment options for rare disease patients is, “I’m sure scientists will find a cure soon,” and sadly that couldn’t be further from the truth. Most rare diseases are not being actively researched, especially in Australia, but also around the world. The research papers that are released on rare conditions are often retrospective studies on patients and the ways we respond to off-label treatments. Research into disease-specific treatment options is almost non-existent, and so it feels a little barbaric to imagine researchers finding a cure, now or into the future, unless something changes for rare disease research.
Rare Disease Day is held on the last day of February every year and aims to raise awareness of the thousands of rare diseases out there and the very real struggles patients face. Over two million Australians currently live with a rare disease. Maybe that is your sister, your father, your child or your neighbour. Maybe one day it will be you who is diagnosed with a rare disease. Whoever it is, you almost certainly love someone who faces these challenges daily. So, are rare diseases too rare to care about?
