Being the last day in February, today marks the international observance of Rare Disease Day, which focuses global attention on the needs of patients and families affected by rare diseases. Rare Disease Day began in Europe in 2008, and has since grown to include over 60 countries. Lilly is one of more than 500 partnering companies, patient organizations, government entities, and research institutions that signed-on to support Rare Disease Day 2012. The National Organization for Rare Disorders sponsors the day in the United States.
It is fitting that this year's theme is "Rare but strong"--a disease is considered rare in the US if it affects fewer than 200,000 Americans. According to the National Institutes of Health, there are nearly 7,000 rare diseases, and studies estimate that it often takes five years or longer to accurately diagnose a rare disease. Living with a disease that affects less than 0.001 percent of the American public can be isolating and frustrating; Rare Disease Day in part focuses on showing support for patients and families.
Rare Disease Day is also about raising awareness and educating the public and policy makers on issues that affect patients with rare diseases. According to Peter L. Saltonstall, president and CEO or NORD, the challenges of living with a rare disease include: difficulty getting a timely and accurate diagnosis, too little research, too few treatments, issues affecting access to treatments, difficulty finding medical experts, and a sense of isolation.
Raising awareness, educating policymakers and the public and supporting patients and their families no doubt help the 30 million Americans living with a rare disease. Further, policies that bolster and sustain biomedical innovation, like the PDUFA V reauthorization or MODDERN Cures Act are vital to the discovery of future cures and treatments for these rare conditions.