Get Involved: Rare Diseases Day

Rare Diseases Are Hard to Overcome

It would be scary enough for you to receive a diagnosis of diabetes or heart disease. Both are very common conditions in the United States and receive ample media attention. But imagine if you were diagnosed with something you’ve never heard of – like myasthenia gravis.

Your first thought may be, “Myasthenia what?

For some, myasthenia gravis is just a long, hard-to-pronounce word. For others it is a  neuromuscular disease that makes it harder for you to use your muscles, causing progressive weakness without treatment. It’s not very common. There are between 36,000 and 60,000 people with the illness in the United States alone. It may sound like a big number, but not when you compare it to the 25.8 million people with diabetes.

Having a rare disease comes with its own challenges. Not many people can understand what you’re going through, there are fewer support groups, and there are less available research funds that go toward finding new treatments or cures. With these challenges, many feel that those with these rare afflictions need an advocate who can speak up for them – like how Rosie O’Donnell is an advocate for desmoid tumors.

That’s where Rare Diseases Day comes in, which is now always the last day in February. It helps to raise awareness of rare diseases among the general public.

There are over 7,000 rare diseases, including epidermolysis bullosa, sarcoidosis, dysmelia, gaucher disease, fabry disease, scleroderma, hemophilia, or osteogenesis imperfecta. Many of these diseases are rare genetic disorders that affect young children.

The Office of Rare Diseases, a subsidiary of the National Institutes of Health (NIH), also hopes to use this special day to strengthen the voices of patients and patient advocacy groups for rare diseases.

By bringing smaller organizations and groups together, they can coordinate policy actions in the United States and other countries. For example, in the UK, there is no government funding for research into myasthenia gravis. By pooling resources, myasthenia gravis organizations can lobby the government. In the US, the Rare Diseases Clinical Research Network coordinates information from smaller organizations and works to improve availability of rare disease information, treatment, clinical studies, and general awareness of rare diseases.

The first Rare Diseases Day took place in Europe on February 29, 2008 and was sponsored by EURORDIS, a European rare diseases advocacy group that represents 561 different disease organizations. Though European based, their work spans 51 countries. The specific day was chosen because February 29 occurs rarely, just like the diseases it represents.

Today, think about those in your family or your community who are suffering from a rare illness. You can visit Rare Disease Day 2013’s official website to find out how you can get involved.