Awareness & Early diagnosis Critical for treating rare diseases in India

• In India, more than 70-100 million people are suffering from rare diseases, of which treatment options are available for ~450 conditions
  
• Rare Diseases disproportionately impact children: 50% of new cases are in children and are responsible for 35% of deaths before the age of 1 year

India is grappling with the challenges posed by rare diseases. The absence of a rare disease policy, low disease awareness amongst patients, and lack of accessibility to specialists are critical factors that make the rare disease patients furthermore vulnerable.

The most common rare diseases identified in India are Haemophilia, Thalassemia, Lysosomal Storage Disorders such as Gaucher Disease, Fabry Disease, Hunter Syndrome and Pompe’s Disease, Sickle-cell Anaemia, Primary Immuno Deficiency,

In Rajasthan, the awareness about rare diseases remains low with many medical centres not having proper facilities for diagnosis and treatment. In Jaipur, SMS hospital and J K Lone Hospitalhave diagnosis facility available.

According to Dr Ashok Gupta, Professor of Paediatrics and Incharge Rare Diseases, Superintendent J K Lon Hospital – SMS Medical College, Jaipursaid,“The number of rare diseases patients in the country is fairly large. There is an urgent need for early screening, early diagnosis, and timely intervention so that patients can lead a near-normal life. The restriction in the movement of individuals due to Covid-19 situation in the country have had an impact on rare diseases patients as they were not able to visit the treatment centres. The big hindrance in diagnosing the disease is due to lack of awareness. It is imperative to have screening of new borns for rare diseases.”

A Rare Disease is defined as a condition that affects fewer than one in 200,000 people. In India, an estimated 1 in 20 Indians suffers from a rare disease which makes more than 70 million people the patients rare diseases, 50% of whom are children. The top rare diseases identified in India are Gaucher, Fabry, Hunter, Haemophilia, Crohn’s disease, Ulcerative Colitis, and Pompe.