Wednesday, February 28, 2018

Rare Disease Day

The last day of February every year is observed as Rare Disease Day. A Rare Disease is defined as one that affects fewer than 1 in 1,500 to 2,000 people. There are estimated to be about 7,000 rare diseases. There are about 300 million people living worldwide that have a rare disease.

The trouble with rare diseases is that often they do not get much attention as the number of people affected by each disease is very small. This means that very few companies would consider developing treatments for a rare disease. When a treatment is discovered or developed, the pricing must be high enough for it to make economic sense for those investing money in it since the number of patients that could potentially be treated is very low.

Many rare diseases are of genetic origin and appear early in life. About 30% of children affected with a rare disease die before they turn five years old.

My primary disease Atypical Hemolytic Uremic Syndrome (aHUS) is classified as an ultra-rare disease. A disease is defined as an ultra-rare disease if it affects fewer than 20 per million population. aHUS is estimated to affect 2-3 people per million population. The problems that exist with rare diseases are often compounded with ultra rare diseases.

Currently, most Indian rare disease and ultra-rare disease patients do not have access to what is considered the standard of care in developed countries as the Indian population cannot afford the extremely expensive treatments that are available elsewhere in the world. What Indian patients hope for this Rare Disease Day is to be given a fair shot at a normal life, to get access to a life-saving treatment that is available elsewhere in the world and we are denied because of two accidents - one of genetics and the other of geography.

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