A rare disease is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population. It is estimated that globally around 6000 to 8000 rare diseases exist with new rare-diseases being reported in the medical literature regularly.
WHO defines a rare-disease as often debilitating lifelong disease or disorder condition with a prevalence of 1 or less, per 1000 population. However, different countries have their own definitions to suit their specific requirements and in the context of their own population, the health care system and resources.
Rare Diseases as a public health issue in India:
- The field of rare-diseases is complex, heterogeneous, continuously evolving and suffers from a deficit of medical and scientific knowledge. So far about 450 rare-diseases have been recorded in India. Globally as well as in India, rare-diseases pose a significant challenge to public health systems in terms of – difficulty in collecting epidemiological data, which in turn impedes arriving at burden of diseases and cost estimations, difficulty in research and development, making correct and timely diagnosis, complex tertiary level management involving long term care and rehabilitation and unavailability and prohibitive cost of treatment.
- So far only about 450 diseases have been recorded in India from tertiary care hospitals that are globally considered as rare-diseases.
- The most commonly reported diseases include Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas and certain forms of muscular dystrophies.
Lysosomal Storage Disorders:
- Lysosomal storage disorder is an inherited metabolic disease that is characterized by an abnormal build-up of various toxic materials in the body’s cells as a result of enzyme deficiencies.
- It may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system.
- There is currently no approved treatment for many lysosomal storage diseases.
National Policy for Treatment of Rare Diseases, 2017:
- The policy highlights the measures and steps, both in the short as well as in the long term, that need to be taken to deal comprehensively with rare-diseases.
- The policy intends to constitute an Inter-ministerial Consultative Committee to coordinate and steer the initiatives of different ministries and departments on rare-diseases.
- It also mentions for the creation of a corpus fund at Central and State level for funding treatment of rare- diseases.
- The policy aims to create a patient registry for diseases housed in Indian Council of Medical Research (ICMR).
- However, recognizing the higher cost of treatment for rare-diseases, the policy also seeks to strike a balance between access to treatment with health system sustainability.
- It also aims to create awareness among health professionals, families of patients and the public in general, about rare-diseases.