There are approximately 25 to 30 million individuals in the United States living with a rare disease. This amounts to almost 8% to 10% of the population, or 1 of every 10 to 12 persons.
Although many are aware of the term “rare disease,” few know there is a legal and regulatory definition. In the United States, a rare disease is a disease that affects fewer than 200,000 individuals (approximately 6.4 in 10,000). In Europe, however, a rare disease is defined as one that affects fewer than 5 in every 10,000 individuals. Definitions vary in other world regions, as well.
Feeling Alone in a Community of 30 Million Individuals
Collectively, there are 25 to 30 million Americans with a rare disease which represents one of the largest patient communities in the country. However, at any given time, an individual in that community can feel isolated because there are 6000 to 7000 known rare diseases. A clinician may also not know what to do with a particular patient. For most conditions, there are no treatments, guidelines, or (very small) advocacy groups to assist patients and clinicians in disease management. Fortunately, the scenario is changing as more and more orphan drugs are developed and approved each year.
Since the Orphan Drug Act became law in 1983, about 500 orphan drugs have been approved for a rare condition by the FDA, and 3500 drugs have been given an orphan designation (not approved, but being investigated). In 2014, the FDA approved a record 46 orphan drugs.
Fortunately, the rare disease community is a very passionate one. The many advocacy groups that have sprung up over the years have made a significant impact in getting legislation passed to help patients who have rare diseases by providing research grants to clinicians and scientists wanting to conduct clinical or pre-clinical studies and educating patients, families, and clinicians on how to best manage specific rare conditions.
Interestingly, the rare disease community—even though it encompasses 6000 to 7000 diseases—is very close. The result is a wealth of resources available to help clinicians manage patients with orphan conditions. This guide is designed to provide information to medical professionals about some of these resources they can use to help manage patients more efficiently.