India's first white paper on rare inherited disorders released

Paper asks government to improve diagnostic and treatment facilities for patients suffering from these disorders

By Jyotsna Singh
Published: Monday 02 March 2015

Mohammed Ahmed with his father at Delhi High Court. The boy is suffering from Gaucher's type-I which requires enzyme replacement therapy costing a few lakh rupees each month (photo by Chinky Shukla)

India needs to put in place a funding mechanism and adequate medical infrastructure to ensure timely diagnosis and treatment of patients suffering from rare diseases, recommends a white paper released by Delhi-based Lysosomal Storage Disorder Support Society (LSDSS).

The paper says patients are forced to rely on philanthropy and patient access programmes due to lack of support from the government. It also points to a dearth of authentic data, including prevalence of rare diseases in India. The shortage of diagnostic facilities and medical specialists has made misdiagnosis in the initial stages a norm.

I C Verma, director of Centre of Medical Genetics at Sir Ganga Ram Hospital, said, “Health budget planners at both the Central and state levels need to be sensitised to the severe burden that rare diseases place on the family and society. The families of rare disease patients have to go through a great deal of anguish and despair as they cannot afford to give life-saving treatment to their children.”

Lysosomal Storage Disorders (LSD) are a group of approximately 50 rare genetic diseases in which a particular enzyme is not formed in the body. Seven of them are now treatable with enzyme replacement therapy (ERT). These include Gaucher Type I, Fabry’s disease, Pompe disease, MPS I (Hurler disease), MPS II (Hunter disease), MPS IV A and MPS VI (Maroteaux-Lamy syndrome). These mainly affect children who are the main focus of this paper.

ERT in children costs a few lakh rupees per annum. The cost increases as a person gets older and sometimes, the treatment can run into a few crore. LSDs are found in about one in every 5,000 live births in the world.

The white paper is the outcome of a roundtable meeting organised by Society for Indian Academy of Medical Genetics and Indian Academy of Pediatrics with patients, physicians, hospitals and representatives from government and regulatory authorities.

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