The last day of February each year is designated as worldwide “Rare Disease Day” to call attention to the public health issues associated with rare diseases, which affect nearly 30 million Americans and countless others around the world. This day is intended to bring together the patients and families with rare diseases to discuss the need for greater awareness, more research, and better access to diagnosis and treatment. The concept of Rare Disease Day was launched in Europe by the European Rare Disease Organization (EURORDIS). Rare Disease Day is now observed in over 90 countries.
More than 200 organizations, institutions, and companies have signed on as “Rare Disease Day Partners” in a U.S. coalition supporting the special observance. The coalition includes patient organizations, professional societies, government agencies, medical researchers, and pharmaceutical and biotechnology companies.
Rare Disease Day activities in the U.S. include a nationwide network of online videos, patient stories, and blogs. Communication campaigns are spread via newspaper, radio, and television reports; state and municipal proclamations; a Rare Disease Hall of Fame for researchers; and other activities designed to raise awareness of what it means to have a rare disease.
A Rare Disease is One that Affects Fewer than 200,000 Americans
According to the National Institutes of Health (NIH), there are nearly 7,000 such diseases affecting nearly 30 million Americans. People with rare diseases often face challenges that occur less frequently with more common diseases. These include a delay in getting an accurate diagnosis, few treatment options, and difficulty finding medical experts. Medical and social services may be denied insurance coverage because those making the decisions are not familiar with the diseases. Also, treatments for rare diseases tend to be more expensive than treatments for more common diseases.
In 1983, the Orphan Drug Act was passed by Congress to create financial incentives for companies to develop treatments for rare diseases. Since then, nearly 330 “orphan” (for rare diseases) drugs and biologics have been approved by the U.S. Food and Drug Administration (FDA). The FDA estimates that from 11 to 14 million Americans benefit from these products; however, that still leaves more than 15 million Americans with diseases for which there is no approved treatment.
Rare Disease Day also highlights the unique partnership that exists among the patient community, government entities such as the NIH Office of Rare Diseases and FDA Office of Orphan Products Development, medical professionals, researchers, and companies developing orphan products.