Recently, there were reports that some NGOs are bracing up to file a PIL in the Supreme Court to direct the state governments to implement the National Policy for Treatment of Rare Diseases released by the central government more than a year ago. The NGOs, who have been instrumental in prompting the government to frame the Policy, are apparently irked over the insensitivity being shown by the state governments in implementing a policy which is the last ray of hope for millions of people affected with rare diseases in the country. There are over 7000 rare diseases globally and about 450 of them have been reported in India. The most common rare diseases reported in India 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. A rare disease, often known as orphan disease, is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population. WHO defines rare disease as an often debilitating lifelong condition or disorder with a prevalence of one or less per 1,000 population. As the number of persons suffering from individual rare diseases is small, they do not constitute a significant market for drug companies to develop and to market such drugs. For them such investments cannot be a viable proposition. When they manufacture drugs to treat rare diseases, they sell them at prohibitively high costs, arguably to recover the research and development cost. At present, very few companies are manufacturing drugs for rare diseases globally and there are no domestic manufacturers in India. In such a situation, government intervention was necessary to provide the much needed relief to the millions of orphan disease patients.
Though there are an estimated over 70 million people affected with rare diseases, India remained without a public health policy to address challenges faced by the rare diseases community till last year. Though the central government came out with a rare disease policy last year at the behest of Delhi High Court, the policy largely remained on paper due to the reluctance of state governments to implement it, leaving millions of desperate patients in the lurch who have been pinning their hopes on treatment assistance stipulated by the national policy. Though the Organisation for Rare Diseases in India, an umbrella group focusing on improving the health of rare disease patients, had appealed to the state governments, and even had written letters to Chief Ministers and top officials of all the 29 states, to implement the policy, all these pleas so far fell on deaf ears. It is time the state governments shed their insensitivity and wholeheartedly support and implement the rare disease policy. As health is a state subject, state governments have a critical role to play in providing and organizing whatever support these patients require. Karnataka is emerging as a model state in this regard with the establishment of a rare disease care center of excellence at the Indira Gandhi Institute for Child Health (IGICH) in Bengaluru. Other states should follow this initiative to provide the much needed succour to these patients without wasting further time.