Today is one of my favorite days of the year: Rare Disease Day. Held annually on the last day of February, it is a day to celebrate those living with rare diseases, and also to raise awareness for the many different types of rare diseases that exist in the world. And there are many.
I consider it to be one of my favorite days, not because I enjoy having a rare disease (let’s be serious!) but because it brings out all the wonderful feelings that make life so meaningful – love, community, passion – just to name a few. What you won’t find, however, is pity – just the opposite, in fact. Rare disease patients don’t want you to feel sorry for them, just to understand what it’s like to walk a mile in their shoes.
All diseases have their passionate advocates, but rare disease patients are especially zealous. When you are diagnosed with a disease that has only a handful of confirmed cases, and is not well-known in the public arena, you become so much more than a patient. You learn to wear many different hats out of necessity. Although many diseases have their own foundations, that doesn’t diminish the need for you to become a vocal advocate. In time, you also will become a counselor to new patients, a fundraiser, a public speaker, maybe even a government lobbyist. You will most certainly become a scientific expert. Oftentimes you will find yourself educating your doctor about your disease, not vice-versa.
Living with a rare disease can be a lonely feeling. If you’re lucky, you might find other patients through forums and Facebook groups, but there are many diseases where this isn’t the case. Some diseases have less than 100 patients worldwide. And that is likely just an estimate, considering only a handful have received a proper diagnosis.
Given the rarity of so many of these diseases, the state of drug discovery is, to put it kindly, less than ideal. Oftentimes, researchers and drug companies overlook rare diseases, either because it isn’t profitable to invest money in research that may only benefit a small subset of patients, or they don’t even know about the disease to begin with. This is why continued patient advocacy is so crucial – the more awareness we can bring to these diseases, the more likely our governments will create the incentives and funding mechanisms necessary to encourage investment. The more patients who tell their stories to the world, the more likely researchers and companies will be moved to act. This is one of many reasons why having a day like Rare Disease Day is so crucial.
Although our symptoms are different, it is a refreshing feeling to meet others who can relate to the emotional aspects of living with a rare disease. With my own disease, Miyoshi Myopathy/Limb Girdle Muscular Dystrophy Type 2B, the incidence is around 5 per million. It is staggering to think about. But add up all the people in the world with rare diseases, and we come out to around 1 in 20. That means, chances are, you know someone in your life who has one.
Today is a day to celebrate and educate, but also to reflect. We have come a long way since the first Rare Disease Day was held in Europe in 2008, but it is also apparent that we still have a long way to go in adequately diagnosing and treating rare diseases.
Until then, we will continue living our lives, juggling our many hats with perseverance and passion.