A Hindi movie in 2009 depicted the poignant story of a child suffering from a genetic condition, Progeria , that causes premature ageing. The subsequent year, another movie showed the life of a person living with an autism disorder that causes difficulty in communication and social interaction called Asperger Syndrome .
Both these conditions have been categorised as “rare, complex life-threatening diseases” that affect less than 0.1 per cent of the population. It is estimated that one in 20 Indians is affected by one of the 7,000 diseases listed “rare diseases.” Nearly 3.7 million of the 70 million Indians suffering from rare diseases are from Karnataka.
Noticing an increase in the incidence of these rare diseases, especially among children, the recent State Budget has proposed to set up a special treatment unit in the city-based Indira Gandhi Institute of Child Health. February 28 is observed as World Rare Disease Day.
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The prevalence rates are believed to be much higher in India compared with Western countries due to consanguineous marriages, say researchers and experts in the field of clinical genetics.
The most common rare diseases include Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas and certain forms of muscular dystrophies.
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A group of eminent healthcare leaders, NGOs, doctors and government bodies have come together under the banner of Organisation for Rare Diseases’ in India (ORDI).
Vijay Chandru, founding member of ORDI, told The Hindu that the organisation hoped to become the first point of contact for families affected with rare diseases. “With limited or no access to proper diagnosis, medical treatment or cure, mortality rate among patients suffering from rare diseases is high,” he says.
Prasanna Kumar Shiroli from Hubli, whose 15-year-old daughter was diagnosed with Pompe disease — an enzyme deficiency that causes build up of excess glycogen within muscle cells — in 2006, says lack of awareness about rare diseases has created a dearth of resources and clinical care for patients. Preveen Ramamoorthy, a clinical diagnostics expert with Strand Genomics, says because of the lack of awareness, there are many patients who are still waiting for diagnosis, let alone treatment.
Genetic originThese experts say there is a genetic origin for at least 80 per cent of rare diseases and in 50 per cent of cases the onset occurs in childhood.
About half of the rare diseases affect children, causing significant social and economic burden, while the remaining manifest in adulthood.
According to Suneela Thatte, president of the Indian Society for Clinical Research, there is a need to have a conducive environment to take up clinical research on rare diseases.