Just because it's rare doesn't mean we shouldn't care!

This last weekend marked an annual day that passed by with as little fuss as implied by its name, even if for those afflicted it is anything but a triviality - Rare Disease Day. It is one thing to have a "mainstream" disease with modern medicine and local infrastructure all geared up to deal with you, and quite another to be faced with something sufficiently esoteric that you might even have trouble finding someone to talk to about it, never mind actually treat it. 

Hence Rare Disease Day (2015), an advocate movement trying to shine a spotlight on those unfortunate enough to be living with a rare disease, often feeling neglected by both the medical community and the pharmaceutical industry, in favour of the "big hitters". However, there has been a shift in recent years, and rare (orphan) diseases have become viable targets for pharma, even if they are nowhere near as commercially interesting as cancer or diabetes, for example. 

Although it is common and somewhat natural to think of this segment as minor in terms of human disease in general, it can be somewhat shocking to realise that some 6,000+ rare diseases have been identified to date, and it is estimated that as many as 350 million people globally are living with one. Collectively that seems a lot less "rare" than the name implies, and we should be doing more about it, given the burden that such disease clearly must place on family, friends and caregivers of the patient. If there's no treatment and no known mechanistic cause of the disease, essentially all they have to turn to is family, friends and caregivers. 

Even here in Canada, the Canadian Organization for Rare Diseases (CORD) estimates that a rather chilling 1 in 12 of us have a rare disorder, with many others susceptible to or unknowingly having some type of rare disease. CORD's mandate is to provide a network for other organizations dealing with rare disorders and to advocate on health policy and development of a healthcare system better aligned with the needs of this growing segment of the patient population.  

One question I hear a lot is - how rare does a disease have to be, to be called a rare disease? It's an excellent question and one whose answer varies with geography, which might explain the confusion. In America, a disease is considered rare or orphan if it affects less than 200,000 people, while in the UK that number shrinks to 50,000. Of course, extremely rare diseases affect significantly fewer people than these numbers, and those patients are often left feeling like they are out there struggling in the crashing waves on their own. 

The problem is of course, primarily a commercial one. When the giants of (pharmaceutical) industry do not see a viable return on their massive potential investment into a particular product, then their business end tells them to run a mile. Who would build a car that market research has estimated will sell only a few thousand in any particular country? Developing a medicine for a very rare disease is not often considered to be the best investment, at least not unless you are going to charge an-arm-and-a-leg for it, almost literally - and even then, there will be howls of derision from profiting so egregiously from individual patients. 

However, if we look at it from a more human standpoint, and disregard the commercial take; why would we treat anyone with any less compassion or desire to intervene therapeutically if they have Acromegaly or ALS versus having cardiovascular disease or cancer? In many ways, those suffering from a rare disease need greater levels of support because even the medical experts themselves are often educated about a rare disease by those suffering from them - because so little is known about their causes and such patients and their symptoms are seen so infrequently by a typical clinician. 

The obvious answer is the humane one - to redirect some of the substantial profits deriving from drugs treating "mainstream" diseases into hardcore R&D on rare disease, facilitating new treatments for the unfortunate few. This has to be backed up by healthcare policy at the governmental level, providing incentive (both in terms of hard cash for new research as well as for advocate groups) and advantages to big pharma digging into the rare disease segment, and commit to making a difference in the lives of patients living with a rare disease. 

It's heartwarming to know that things are already moving in that direction, with Novartis, GSK and Genentech all having been quite vocal last weekend about #RareDiseaseDay, and Pfizer's recent bolstering of it's rare disease pipeline. Even as a very early stage fund, we at AmorChem take rare diseases seriously and we have recently invested in an opportunity for Friedreich's Ataxia, a debilitating, inherited rare disease that manifests itself as a life-shortening neuromuscular disorder. Additionally, we previously invested in disovery of novel therapeutics for another orphan disease, Type 1 Myotonic Dystrophy - a program which we have since partnered with Roche. 

We have to start somewhere and given the length of time from R&D to clinical trials to the bedside, it's best we begin immediately and invest heavily. Such diseases may indeed be rare, but that does not mean that they don't have a huge impact and often devastating consequences, for the individuals concerned. When it comes to human disease, we should all be equal, irrespective of geography and equally irrespective of which disease is diagnosed.