“I have no diagnosis, no prognosis and no pain medication,” says Kathy Panas Zabel. For more than 30 years, she’s been trying to figure out why she experiences pain throughout her body. Doctors couldn’t help her or didn’t want to take her on as a patient because of her complex medical background, so she started compiling research and medical records on her own, trying to find some answers. Some hope came in 2009 when she found out she had been accepted to Dr. William Gahl’s Undiagnosed Diseases Program at the National Institutes of Health (NIH). Applicants to the program have to submit medical records and undergo testing including genome sequencing, but less than half of patients actually receive a diagnosis. In the world of rare diseases, Zabel is truly rare. She might be the only one with her condition. However, not all rare diseases are that rare. And as a class, they’re barely rare at all. The NIH’s definition of a “rare disease” is just one that affects less than 200,000 Americans. Only a few people may be affected by each, but there are estimated to be thousands of these conditions, meaning that: An estimated one in 12 Americans lives with a rare disease. |