Rare diseases are sadly not rare: ±300 million

I was amazed to find out that I’ve recently joined a far bigger club than I could ever have expected. It’s one that’s sadly underfunded and often not given sufficient attention. It is a club with somewhere around 300 million people worldwide and likely over half a million in Israel.

As I digest a terrible diagnosis, I’m turning my attention to raising awareness and trying to improve support to patients both of the disease I now ‘probably’ have but also the broader group I find myself in. I would love to say I am altruistic but it is also highly selfish of me as I seek meaning, personal knowledge and treatment in this new world I am in.

I’m in a strange world of transition — from a probable case of what seemed like very aggressive Parkinson’s Disease, which gets a decent amount of focus and funding (though still not enough), to a probable case of a much rarer form called PSP, or Progressive Supranuclear Palsy. Sadly, it’s a much nastier cousin, with a faster and worse impact, building on something that was certainly not fun in the first instance. Already, it’s caused huge changes — putting me on the fast track to retirement, ending my driving, and making it hard to walk 100 meters. Now it’s harming my eyes and affecting my behavior, which I (and my family) probably like the least.

Rare diseases are far from rare

I’m beginning an awareness campaign for what’s classified as one of over 3,500 rare diseases (not including cancers, infections, or poisons), affecting between 260 and 455 million people worldwide. The campaign is partly a result of challenges people with many of these conditions face. Many in this group only have “probable” diagnoses, or worse, no idea what they have, because research and testing just aren’t there. This — as I write below — is one of the key issues.

Naturally,  of course, focus goes to the “big beasts,” and I don’t really really question that — you gear much of your funding to the diseases that hit the most people. But that leaves a very serious gap which impacts patients, caregivers, and the medical system itself, which loses valuable creativity and innovation. As many of these efforts are localized it also means funding is not grouped and therefore they each lose the benefit of scale.

I’m no medical expert, but from my own experience, having next to no specialists for many of these diseases in many countries leads to widespread misdiagnosis, long delays in getting the right treatment, a lack of hope from no clinical trials, and not enough support for caregivers. It also adds huge costs to the healthcare system. I suspect there are strong links — genetic and otherwise — between many rare diseases (40–50% are neurological), and finding treatments could solve multiple problems at once.

A country like Israel — a hi-tech hub — should have the basics in place for diseases like PSP. In a nation of 10 million, there are about 500 people with PSP, but around 400,000 with rare diseases, though a Knesset committee pegged it higher, at 567,000 to 756,000.

The Word “Probable”

One big issue in treatment and support is the word “probable” or “possible.” Diagnosis is often hard and rarely 100% certain. Take my likely condition, for example.

As the research paper Clinical Diagnosis of Progressive Supranuclear Palsy: The Movement Disorder Society Criteria lays out (I’ve edited it a bit for clarity):

• Diagnosis is made at the first clinical visit in only about 24% of cases. (Usually, like me, it is seen as Parkinson’s Disease)
• “Diagnosis is typically made 3 to 4 years after onset of first symptoms, when the cardinal features, that is falls and supranuclear gaze palsy, have become unequivocally apparent.”
• Different definitions are provided for ‘Probably’ or ‘Possible’ cases, which is indeed the case for most people (certainty like for Parkinson’s is usually only at autopsy)
• “Early and reliable diagnosis of PSP remains a major clinical challenge, but is justifiably demanded by patients and their carers and is highly important for estimation of prognosis, appropriate allocation to therapeutic trials, and development of new diagnostic tools.”

PSP is particularly nasty, with a mix of Parkinson’s-like symptoms and Alzheimer’s-like dementia, plus a very low life expectancy. I sadly exhibit the symptoms clearly set out in the paper but I hope and pray “probable” stays just that and not actual in my case. In any event — as I wrote here — I plan to smash those stats and don’t believe they define me, but logically, it’s still tough to get used to.

Without investment in understanding PSP, training specialists, and learning from experience, this won’t change. While people focus only on major conditions, this huge group of often confused, unsupported people will stay stuck.

One of my two neurologists—Professor Nir Giladi, about whom I wrote a tribute here in the The Times of Israel—first spotted my PSP symptoms. Sadly, he passed away, leaving many grateful patients in the Parkinson’s and rare disease world. I’ve decided to raise awareness and funds together with his former hospital, Ichilov/Tel Aviv Medical Center, in his name. We’re aiming to start a registry for clinical trials and provide much-needed patient info. If you’d like to donate, you can do so via this link, but that’s not the point of my article.

I’m blessed not to be a policymaker deciding how to prioritize medical funding — there are good arguments all around, plus other needs (as a father of a child who fought on October 7th and for most of the last year and a half, I get it). PSP is a good cause, though — and of course I am a little biased. On getting a diagnosis of what “appears to be PSP,” it should come with support, guidance, and hope through ongoing research.

I hope the advance of science sees rare disease addressed head on in coming years!