A rare disease is a health condition which has a low prevalence and affects a small percentage of the population. Rare diseases include inherited cancers, auto-immune disorders, congenital malformations, and infectious diseases Some common Rare Diseases are Hemangiomas, Hirschsprung disease, Gaucher disease, Cystic Fibrosis, Muscular Dystrophies and Lysosomal Storage Disorders.
In India, as an estimated over 70 million people are believed to be suffering from some kind of rare disorder. These numbers clearly indicate that even though these diseases are rare, the patients suffering from them are not.
rare diseases are severe and chronic, and are often life-threatening. They are disabling wherein the quality of life of a patient is compromised dramatically and they are unable to do even simple daily tasks. Rare diseases are difficult to diagnose because in their early stages, symptoms may be absent or masked or misunderstood or confused with other diseases.