A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.
Most rare diseases are genetic, and are present throughout a person’s entire life, even if symptoms do not immediately appear.
Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease. Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis.
The most common rare diseases recorded in India are 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.
While there is no universally accepted definition of rare diseases, countries typically arrive at their own descriptions, taking into consideration disease prevalence, its severity and the existence of alternative therapeutic options.
In the US, for instance, a rare disease is defined as a condition that affects fewer than 200,000 people.
The same definition is used by the National Organisation for Rare Disorders (NORD).
Concerns and challenges:
Rare diseases pose a significant challenge to health care systems because of the difficulty in collecting epidemiological data, which in turn impedes the process of arriving at a disease burden, calculating cost estimations and making correct and timely diagnoses, among other problems.
Many cases of rare diseases may be serious, chronic and life-threatening. In some cases, the affected individuals, mostly children, may also suffer from some form of a handicap.
As per the 2017 report, over 50 per cent of new cases are reported in children and these diseases are responsible for 35 per cent of deaths in those below the age of one, 10 per cent of deaths between the ages of one and five, and 12 per cent between five and 15.
Need of nationwide policy:
State has responsibility for providing affordable, accessible and reliable health-care services to every citizen. In fact constitution also mentions importance of health-care services under articles like 21, 38 and 47 and thus state cannot evade this responsibility under the pretext of non-justifiability of articles.
Given the low volumes at which the drugs needed to treat such diseases would be consumed, pharmaceutical companies have little commercial incentive to produce them. Thus, a nationwide policy on orphan drugs could incentivize these players.
Even if pharmaceutical companies are incentivized to develop drugs to treat rare diseases, pharmaceutical companies remain beholden to the laws of economics and, given the low demand for orphan drugs, price these drugs as high as they choose to. Hence there has to be regulation of the government in restricting the exorbitant prices of the drugs.
Although proportion of rare diseases is much less than the other diseases, it does not reduce the importance of the life of person affected by rare diseases. Thus national policy would remove this adverse distinction and would make government committed equally to all people.