Science continually opens windows and doors, offering insight into diseases and conditions and how to cure or at least manage them. Pharmaceutical companies invest heavily in research, particularly for common diseases. Rare diseases are often neglected, to the point where they are also known as “orphan diseases.”
The last day of February – February 29, this year – is internationally recognized as Rare Disease Day. It marks the ninth year of efforts to raise awareness of rare or orphan diseases, and the people who live with them. The slogan this year is: Join us in making the voice of rare diseases heard. MaxorPlus is proud to support this initiative, educating people and helping the voice of patients be heard.
- In the U.S. a rare or orphan disease is defined as one that affects less than 200,000 people, but some affect only a handful of people.
- Estimates put the number of rare or orphan diseases at about 7,000
- About 250 new ones are identified each year, most of which affect only a handful of people (often described as ultra-rare diseases)
- An estimated 24 million to 30 million people in the U.S. – almost 1 in 10 – are living with a rare or orphan disease; many more live with someone who has one of these conditions
- Only about five percent of rare diseases have drugs that have been approved by the Food and Drug Administration as therapies
- 80% of orphan diseases have a genetic component
- 50% of rare diseases strike children
- In the U.S., it takes an average of 7.6 years for someone with a rare or orphan disease to be correctly diagnosed
The Orphan Drug Act was passed in 1983 to encourage pharmaceutical research into drugs to treat rare diseases and conditions. Knowledge about genetics and genetic markers exploded as a result of the Human Genome project, so conditions from Rheumatoid Arthritis to cancer are now seen as a collection of rare diseases instead of a single condition. But despite the designation of “orphan drugs” as candidates for expedited approval by the Food and Drug Administration, and the proliferation of FDA approval of actual new orphan drugs or existing drugs for new indications, many orphan diseases still have no treatment or cure.
Every case of an orphan disease is a patient whose life is challenging in ways that most people do not understand. Approximately one person in 10 in the U.S. has a rare or orphan disease, and it is not uncommon for some to struggle with prolonged lack of diagnosis or misdiagnosis of an orphan disease, or live with the side effects of therapy, if there is one.
As a pharmacy benefit manager (PBM), we listen to the voices of patients. We encourage everyone to do the same, on the last day of February and every day,