Rare Disease Day

 February 28th is Rare Disease Day. Yeah, it's technically February 29th, but that's, well, rare, so we celebrate it on the 28th on those years that don't have a 29th! Between 3.5% to 5.9% of the World's population live with a rare disease. Why the range? Well, the numbers aren't really accurate. In Western countries where healthcare is readily available, it is still difficult to receive a diagnosis. The average Ehlers-Danlos Syndromes diagnosis takes 12 years. I didn't get diagnosed until I was 43 although I started showing symptoms at a very young age. But when it comes to developing nations, health care is an entirely different story. Even if you get to see a doctor, the odds of them recognizing that you have a rare disease is pretty unlikely. And then, if they do diagnose you, it's unlikely that your case will be counted by a national agency of some type. So, they make their best guess!

According to this report:

 There are over 6,000 rare diseases, many of which are chronic, progressive, degenerative, disabling, and often life-threatening. Due to the rarity of each disease and scattered populations, expertise and information are scarce. In health and support systems designed for common diseases, those with a rare disease face inequities in accessing diagnosis, care and treatments.

  There's been a lot of talk about equity around me recently. I talked more about it in this post. But when it comes to rare diseases, it's a real issue. If you get pink eye (Conjunctivitis), your doctor will likely recognize it right away and be able to give you an appropriate treatment, which is not all that expensive. According to this article:

However, due to increased awareness and advances in screening, treatment, and management, death rates from breast cancer decreased by 40%Trusted Source between 1989 and 2017. This equates to 375,900 deaths prevented within that time frame.

 Breast cancer treatment and outcome has improved dramatically due to research, education, and awareness. With rare diseases, we have little or none of this. Johnson and Johnson shared that:

What makes a disease rare is how prevalent it is—that is, the number of individuals living with it. In the United States, a rare disease is one that fewer than 200,000 people live with. (In other words, 60 per 100,000 individuals.) 

 So what's the big deal? So a few people don't have access to great healthcare?

 Turns out that each rare disease has only a few people with it, but there are a lot of them!

 So, when you put it all together:

 The fewer people that have a disease, the less money there is in researching cures and making vaccinations and medications to treat it. Let's face it, we live in a capitalist society, in many ways a capitalist world, and if there's no money to be made there is very little going to be done about it. Coming back to equity, when considering the following infographic, think of the blond man as Breast Cancer, the girl as Ehlers-Danlos Syndromes (EDS), and the little boy as an Intraventricular Adult Pilocytic Astrocytoma (the type of brain tumor I have). 

The prevalence rate of breast cancer in America is currently 1 in 8 women, or about 13% of the population. With EDS we see a prevalence rate of about 1 in 3,100 – 5,000 for my type (hEDS). With the brain tumor it gets a little more complicated. According to this study published in 2020, there were only two known cases of Intraventricular Adult Pilocytic Astrocytomas (IAPA) in the literature so far, including theirs. That's not two per year, that's two ever. I found a little more literature suggesting there might be a few more out there, but not much. So, guess how much research there is on hEDS and IAPAs? Not much. The Ehlers-Danlos Society has championed some fabulous research which is bearing fruit, but it is mostly privately funded, particularly by those with the condition. In order for people like me with EDS or an IAPA to receive an equal level of health care to someone with breast cancer, we need A LOT of extra help (maybe even more than the two boxes above 😕). 

Here's the Thing: Equity and equality are different. If I was looking for equality, I'd be asking for $580,6000,000 from the National Cancer Institute (the government funding for cancer research) for Intraventricular Adult Pilocyctic Astrocytomas. That's how much they spent in 2022 on Breast Cancer Research. Obviously, that's not reasonable. But, recognizing that there are MUCH fewer resources out there for people like me experiencing rare disease, it sure would be nice if someone would give me a boost so I could see over the fence too!