February 28th is Rare Disease Day which raises public awareness of rare diseases, defined by the EU, as a condition which less than 1 in 2000 people suffer from. Think it’s not important? Think again. Approximately 1 in 20 people will struggle with a rare disease in their lifetime.
Rare diseases are individually rare – by definition – but collectively quite common. It’s quite likely that somebody you know personally has a rare disease. There are over 7000 rare diseases that are identified today, and more being discovered.1 If you suffer from a condition in which only 1 in 2000 people suffer, you are right to feel unlucky. It’s even true in a sense, but given that there are many such conditions, it’s actually not that unlikely that you will cross paths with one. Also, if you restrict it to just rare skin diseases, the list is massive.
Why Are Rare Diseases Challenging?
Rare diseases present unique and serious problems, both in terms of health care in general and at the individual level. On a basic level, the most obvious challenge is that information is lacking for rare diseases, especially recognized scientific information. Trials are near impossible, as the sample size is always an issue. Information is scarce even among experts and specialists, compared to more common illnesses, whose research is better funded and more established. Beyond the basics, though, rare diseases present several unique challenges:
It’s incredibly distressing when a doctor tells you that they don’t know what’s happening to your body, but it’s an everyday reality for patients with rare diseases.3
- Symptoms are often general – they apply to multiple conditions, and it’s a process of elimination.
- As diagnosis will start with the most common conditions, even when the disease is diagnosed, it will take multiple tests, cost more resources, and take longer before treatment can begin.
- Given that testing for conditions is never 100% accurate, rare diseases present a serious statistical challenge to diagnosing rare diseases.
The financial incentives for pharmaceutical companies aren’t distributed equally. There’s a good reason why we see plenty of commercials for Viagra but none for a drug treating rare diseases. Due to the extraordinary costs required for research and development of drugs, which have a high bar to pass before it can go out into the market – the payout needs to be proportionately high for companies to want to develop drugs – and the market isn’t there for rare diseases to justify the costs under normal conditions.
Public funding and political intervention are required to incentivize pharmaceutical companies in this regard. For example, most countries have an Orphan Drug policy designed to fund drugs that treat rare diseases. Nonetheless, the cost is still a serious problem. Real patients can find themselves in dire situations even in a country with Universal Health Care,4 mainly for treatment costs.
Genetics and Severity
Most rare diseases are genetic in origin, and therefore, the symptoms often show up in childhood. Many of these genetic problems cause serious illness. Tragically, many young patients die before the age of 5 due to rare cancer linked to genetics.5 When genetics are involved, the symptoms tend to be chronic.
Show Your Support
Show your support for rare disease day on February 28th this year. Many smaller organizations are gathering together in a united front to raise awareness, which is critical to support the many patients who live with rare diseases and promote public funding and awareness, which is crucial.
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3Su, Francis E., et al. “Medical Tests, and Bayes’ Theorem.” Math Fun Facts. Put simply, a medical test that spits out a false positive only 1% of the time is usually not a big deal but essentially useless when you’re trying to diagnose a condition that affects 1 in 10,000 people since it’s *still* much more likely that the test is simply wrong even when it tells you that you have the condition.