Context

World Rare Disease Day is observed every year on the last day of February. This year, February 29, the rarest of days, is marked as the International Rare Disease Day.

About

• Rare Disease Day takes place on the last day of February each year. The main objective of Rare Disease Day is to raise awarenessamongst the general public and decision-makers about rare diseases and their impact on patients' lives.
• The first Rare Disease Day was celebrated in 2008 on 29 February, a ‘rare’ date that happens only once every four years.
• Ever since then, Rare Disease Day has taken place on the last day of February, a month is known for having a ‘rare’ number of days.

What is Rare Disease?

• A rare disease also referred to as an orphan disease, is any disease that affects a small percentage of the population.
• Over 300 million people are living with one or more of over 6,000 identified rare diseases around the world.
• Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms 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 and delaying treatment.
• Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.
• Each rare disease may only affect a handful of people, scattered around the world, but taken together with the number of people directly affected is equivalent to the population of the world’s third-largest country.

Items for Box: Rare diseases currently affect 3.5% - 5.9% of the worldwide population. In India, one in one lakh people suffer from some rare disease.  72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. 70% of those genetic rare diseases start in childhood.

What causes rare diseases?

• There are many different causes of rare diseases. The majority are thought to be genetic, directly caused by changes in genes or chromosomes.
• In some cases, genetic changes that cause disease are passed from one generation to the next.
• In other cases, they occur randomly in a person who is the first in a family to be diagnosed.
• Many rare diseases, including infections, some rare cancers, and some autoimmune diseases, are not inherited.
• The most common rare diseases identified in India are Haemophilia, Thalassemia, Sickle-cell Anaemia, Primary Immuno Deficiency, Lysosomal Storage Disorders such as Gaucher Disease, Fabry Disease, Hunter Syndrome and Pompe’s Disease. 

Challenges:

• Lack of knowledge: The lack of scientific knowledge and quality informationon the disease often results in a delay in diagnosis.
• Misdiagnosis: As mentioned, due to the broad diversity of disorders and relatively common symptoms which can hide underlying rare diseases, initial misdiagnosis is common. In addition, symptoms differ not only from disease to disease but also from patient to patient suffering from the same disease.
• Social and financial burden: Also the need for appropriate quality health care engenders inequalities and difficulties in access to treatment and care.This often results in heavy social and financial burdens on patients.

Building awareness of rare diseases is so important because 1 in 20 people will live with a rare disease at some point in their life. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision-makers to address the needs of those living with rare diseases.