On the last day of February, people around the world living with rare diseases or disorders shine a light on the rare diseases they deal with every day.
We see pink ribbons on everything from car magnets to KFC buckets (yes, really!) to increase awareness about breast cancer. Rubber wristbands became the rage after the “Live Strong” campaign from Lance Armstrong’s foundation got media attention.
Rare diseases do not get the same attention – or funding – because they are, well, rare. Without enough patients to comprise a big enough “market” it is difficult to get a strong message heard amidst all the chatter. Did I mention that it’s also difficult for people with the same rare condition to find each other, much less gather the energy and resources to organize huge public awareness campaigns?
The beauty of Rare Disease Day is that it opens up opportunities for new conversations at all levels around the world. This is the fourth year of RDD in the United States.
So what makes a disease or disorder “rare”?
The US definition is a disease or disorder that affects fewer than 200,000 people (as defined by the Orphan Drug Act of 1983). With this definition, there are approximately 7,000 rare diseases active in the US. Almost 30 million Americans (10%) are living with a rare disease.
The European definition of a “rare disease or disorder” is one that affects fewer than 1 in 2,000 people.
Rare diseases/disorders are often life-threatening or chronically debilitating. Many of these diseases tend to change over time, degenerating the patient’s quality of life and ability to work, live independently, and enjoy many of life’s simple pleasures. Some people are asymptomatic for years before the disease progresses.
Rare diseases/disorders are difficult to diagnose because they share symptoms common to other ailments and the symptoms also may vary from one patient to another. Many patients are first misdiagnosed and live with inadequate treatment until the true disease state is discovered.
My diagnosis of Polycythemia Vera, a Myeloproliferative Neoplasm (MPN), was given in the fall of 2009 — two years AFTER the triple vein thromboses which almost took my life. At the time of the thromboses and ensuing ischemic bowel, peritonitis, and organ distress, I was diagnosed with Factor XII and Protein C deficiencies. It took another “close call” event to occur before I received the full diagnosis and began appropriate treatment in 2009.
The diagnosis of Behcet’s Disease, an auto-immune illness, was made after a lot of pain and many tests by my internist, gynecologist, and infectious disease doctor in 2009-2010. The first rheumatologist said he didn’t believe one patient could have two rare diseases. This one continues to be a real roller coaster, but my rheumatologist is excellent about keeping up on the latest (albeit limited) literature, studies, and practices concerning Behcet’s.
What’s a NORD?
I encourage anyone with a Rare Disease to register with the National Organization for Rare Diseases (NORD) or EURORDIS (Rare Diseases in Europe). When you register, you can opt to be notified to participate in on-line surveys, clinical trials, and learn when new findings about the disease are made available. It’s free and it’s a way to contribute to better science.