The last day of every February is dedicated to Rare Disease Day. I have to admit, having myalgic encephalomyelitis (ME), I unknowingly thought that this day may be related to my illness. However, the more I thought about it, the more I realized that my disease isn’t rare, 17-24 million people around the world have this disease. It’s not rare at all, it’s just ignored by most (nearly all) in the medical field. But that’s another story…
Today is Rare Disease Day; a day that cannot be given enough attention. This day is dedicated to raising awareness among the general public, policy makers, public authorities, industry representatives, researchers, and healthcare professionals about rare diseases.
Okay, so let's start with the basics. What's considered a rare disease? How rare is rare?? In researching it just a bit I discovered that it’s defined a bit differently depending upon the source you rely on but generally speaking in Europe a disease or disorder is defined as rare when it affects fewer than 1 in 2000 people. In the United States, it’s defined as rare when it affects fewer than 200,000 Americans at any given time. There are 7000+ rare diseases. A shocking 50% of them affect children. Ouch!
Here's one of the real challenges with these rare diseases. Unfortunately, the relatively common symptoms of many of them can hide the actual underlying rare disease, leading to misdiagnosis and delaying treatment. The fact that there often is no existing effective cure then adds to the high level of pain and suffering endured by these patients and their families.
Being a bit new to this day, this is just an outsider's guess but I imagine another one of their big challenges is gaining the attention of those that can help fund, research for a cure, and also provide appropriate medical care and support for these diseases. I do appreciate the counterargument that we have diseases that affect much larger population pools and therefore those diseases should be the focus – there are thousands of diseases much more pervasive. One could argue though that many of those diseases have global, national, and state level organizations that support and fund them to a large degree, especially relatively speaking. While I certainly wouldn’t ever advocate taking any money dedicated to curing these diseases, I think it is worth noting this fact. I say this even as someone with ME; if my disease was given funding, I certainly wouldn’t want it taken away, but I do also see the need to dedicate funds where funding can’t be as easily be found from other sources. Lastly, when you see the hardships and challenges up close and personal of someone who has a rare disease you can’t help but advocate for more, for better, and for a cure them.
The great news is the enormous progress is being made every day. The ongoing implementation of a stronger, more comprehensive approach to rare diseases has led to the development of more robust public health policies. In addition, gains are being made with the increase of international cooperation in the field of clinical and scientific research as well as the sharing of scientific knowledge about all rare diseases, not only the most “recurrent” ones. Both of these advances have led to the development of new diagnostic and therapeutic procedures. But much more is needed to eradicate these diseases from our population.
So back to Rare Disease Day… What happens on this day? Well, the campaign started as a European event and has progressively become a global event, with the United States joining in 2009 and participation in over 90 countries all over the world in both 2017 and 2018. Hundreds of cities are focused on taking part in this day today, hopefully expanding the reach of this focus even further and increasing worldwide awareness of these conditions and the need for additional attention to them.
If you are interested in learning more about the types of diseases that fall under this category, here is a list of rare diseases. Many of these diseases have their own foundations; there are also many foundations that assist patients with a variety of such diseases. For example, one such foundation is the Leukemia and Lymphoma Society. They provide financial assistance directly to patients in need, helping to cover out-of-pocket costs. Please consider donating to this organization or one of the many related to the diseases on the list. They would appreciate any dollar you can spare.