Rare diseases day

Context: 28 February, 2019, Rare Disease Day is an observance held on the last day of February to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families.

What is a rare disease?

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. In Europe a disease or disorder is defined as rare when it affects less than 1 in 2000 citizens.
• 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.

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.

Sources: down to earth.