Observed on the last day of February every year, Rare Disease Day aims to raise awareness among people, health representatives, researchers and decision-makers about relatively unknown diseases and their impact.
Though it started as a European event, by last year, 80 countries across the world had joined the campaign. According to the World Health Organisation, a disease that is found in less than 6.5 – 10 per 10,000 people is defined as rare.
Hemangiomas (blood vessels forming a birthmark), lupus (an inflammatory disease), cystic fibrosis (a genetic disorder affecting lungs and the digestive system), hirschsprung disease (blockage of the large intestine), lysosomal storage disorders (a group of inherited metabolic disorders), and muscular dystrophies (progressive weakness and degeneration of the muscles) are some of the rare diseases.
Key facts about rare diseases in India
According to data tabulated by rarediseasesindia.org, with over 11 million affected people, Uttar Pradesh has the maximum number of rare disease patients.Sikkim has the lowest with a little under 36,500 patients.
As per Indian Society for Clinical Research (ISCR):
* The number of people suffering from rare diseases is 70 million in India and 350 million around the world.
* 1 in 20 Indians is affected by a rare disease.
* There are 7,000 known rare diseases, most of which are progressive, life-threatening, and chronically debilitating conditions. Treatment is available for just 500.
* 80% of the rare diseases have a genetic origin.
* 50% rare diseases affect children, most of who do not live beyond five years.
Research is the way forward
ISCR says research can help save the situation, adding that it can lead to the identification of previously unknown diseases, can increase understanding of diseases, enable doctors to give a correct diagnosis, lead to the development of new innovative treatments and even reduce costs for healthcare systems and improve the quality of life of patients and their families.
“Lack of awareness and scientific knowledge often leads to misdiagnosis or late diagnosis and delayed treatment. There are still no known cures for most rare diseases, and the cost of treatment is extremely high. Clinical research will help us find better and more effective treatment,” Suneela Thatte, President of ISCR told PTI.
Need for awareness, common platform
“Rare disease patient communities need to come together on a common platform. We need to create more awareness about rare diseases and impress upon the government the need to focus on an Orphan Drug Policy for rare diseases,” Prasanna Shirol, co-founder of Organisation for Rare Diseases India (ORDI), told PTI.
(With inputs from PTI)
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