About Rare Diseases
There are about 7,000 rare diseases identified in the United States. About 80 percent of rare diseases are genetic in origin and about 50 percent affect children.
Rare diseases can be chronic, progressive, debilitating, disabling, severe and life-threatening. Information is often scarce and research is usually insufficient.
People affected face challenges such as delays in obtaining a diagnosis, misdiagnosis, psychological burden and lack of support services for the patient and family.