Rare disease day was established in Europe in 2008, and first celebrated in the US the following year. This day is sponsored by EURORDIS (the European rare disease organization) and by NORD (National Organization of Rare Diseases, USA). The goal of both organizations is to "support policies and practices that promote innovative research and the development of new treatments, provide access to the highest standard of diagnosis and care, encourage more patient-centered health care systems, offer a higher quality of information, and help break the isolation of the people living with rare diseases." ***
Some people may think it is odd to have a whole day for rare diseases, believing that fighting a rare disease is not that much different than fighting a more common disease. While suffering is still suffering, regardless of how common a disease is, after over twenty years of a rare illness I can tell you that there are definitely special challenges that come with living with a rare disease.
The first challenge is just getting a diagnosis. When you have a rare disease, most doctors you run into have little to no experience with your particular illness. If they don't know anything about your disease, they don't recognize the symptoms or even know how to look for it and therefore just getting a diagnosis is tough.
I went at least two years without a diagnosis. My first doctor ignored my complaints, while my next doctor felt there was something wrong but didn't know what. I went to her for quite awhile until finally my mom asked her to watch me rise from the floor. Because my muscles were so weak, I had to compensate and get up in a really strange way. It was much more difficult than what a nine year old should do. After I did that, it suddenly occurred to her what I might have, as she had encountered a patient with a similar disease before. She then knew what type of doctor to refer me to for a diagnosis, but had she not been aware of my illness at all, I might have spent many more years searching for help. Had my illness been more common, I might have gotten an earlier diagnosis, and therefore earlier treatment, and earlier treatment is believed to have higher remission rates. We will never know how much the lack of diagnosis in the early days played into the severity of my illness.
The complications don't end with the diagnosis. There are still many problems you encounter in the medical field when having a rare disease. It's hard to find a doctor who is well informed enough to take your case. Some doctors won't even see you, and others don't have the expertise but attempt to treat you anyway, which in the long run can make things much worse! If you do find a doctor with a lot of experience treating your disease, they may only have a few treatment options available to give you. Less people affected means less money for research. Less money for research means less research studies. Even when you do find the funds, there are less people to research on, which means less data to base treatment plans on. All medicine is more or less experimental, but having a rare disease greatly enhances the guessing game. On top of that, the same disease may vary greatly in two differently individuals, making it even harder to decipher a successful therapy.
As if the challenges we face in getting the correct treatment aren't enough, it doesn't end there. One of the hardest things about having a rare disease is the lack of awareness in the day to day life. While I know many people who fight stigmas and ignorance about even common diseases, at least other people have heard of those illnesses! There are times I've told people I have "Dermatomyositis" and felt as if they believed I just made it up because they've never heard of it. The name of my illness is actually very explanatory of my illness--"derma" means skin, "myo" means muscle, and "itis" means sickness. It makes complete sense why a disease that affects mostly skin and muscle tissue would be named dermatomyositis but without breaking it down, most people don't really know what it means, and therefore wrongly drawn the conclusion that I somehow made it up! (FYI, many important things in your body, like major organs, consist of muscle and skin cells! Which means much of my body can be affected by this illness!)
Another thing I've noticed is that people seem to believe if it was really bad, they'd hear about it more. I can't even count the times I've tried to tell people more about it just to get the feeling that they believe I am exaggerating. Even the "easiest" case of dermatomyositis can be tough; but having a chronic and severe form is downright scary sometimes. At my worst, things literally got harder and harder to do until I eventually lost a great majority of my abilities. I'm not talking about great athletic feats here; I'm talking about simple things like getting in and out of the bed or rising from a chair. By the grace of God I am getting stronger, but there are still daily tasks I'm struggling to relearn that most people are able to do without even trying. Just because dermatomyositis isn't well known, doesn't mean it's easy; it just means it is rare!
So why is it important to support rare diseases? It is important because people fighting rare diseases are important and valuable to God. Our suffering is still suffering, regardless of how many other people in this world happen to share a diagnosis, and we need and appreciate those who choose to share the burden with us. We are called to love and support one another, but many people don't take the time to slow down and care for the sick. One of the hardest things about any chronic illness is the isolation one feels; having a rare chronic illness makes it all the more isolating. So next time you have an opportunity to meet someone "rare," take the time to learn about the disease they are fighting. It may not seem like a lot, but it means more than you know!
***http://rarediseaseday.us/about/history/
