Much of our conversation about health leads to the talk of a few common ailments that afflict several of our acquaintances — diabetes probably tops this list. Yet, for each of the few ailments that preoccupy us, there are many that occur only rarely, but whose effects can be devastating to the sufferers and their families.
The most common definition of a rare disease is a prevalence rate of one case in a population of 10,000 people. The term orphan disease is apt for many reasons. Rarity made them difficult to diagnose, because young medical practitioners may not have seen even one case. For the same reason, not much research was carried out in these areas, because of which treatments often did not exist.
This situation has undergone a change as awareness of the diseases, and genomic technologies to diagnose them, has spread. In many countries, regulatory bodies offer incentives to promote investments in the development of pharmaceuticals for neglected illnesses. Expectedly, such moves have heightened interest in “orphan drugs”. Between 2009 and 2014, half of all approvals made by the FDA were for rare ailments and cancers. However, the costs of these therapies are prohibitive, especially from an Indian viewpoint. Estimates put these costs between Rs.1 million and Rs.20 million per year.
