Rare Disease Day Promotes Awareness, Research, Hope

By: Jennifer C. Yates

What do spinocerebellar ataxias, dystonia and porphyria have in common? They are among 7,000 rare diseases identified in the United States. About 80 percent of these diseases are genetic, and many affect children. 


Today marks Rare Disease Day, which was established in Europe in 2008 on Feb. 29. That date was chosen because it’s so rare – only happening once every four years. In the lack of a Leap Year, the day is commemorated on Feb. 28 and March 1.
Rare diseases in the U.S. are defined as any illness affecting less than 200,000 people, according to the National Organization for Rare Disorders.   Rare diseases can be a challenge to diagnose, and treatments and support are often limited for patients because so few people are affected. Rare diseases are often chronic, progressive, disabling and life threatening.
The National Institutes of Health’s Office of Rare Diseases Research was established to help raise awareness, bring together resources for patients and promote research into rare diseases.
Do you have a rare disease or know someone who does? Help raise awareness of the condition by sharing your story with us in the comments section below.