About Rare Diseases

There are about 7000 rare diseases identified in the United States. About 80% of rare diseases are genetic in origin and about 75% 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.