Health ministry plans policy for rare diseases’ treatment

NEWDELHI: The 20-year-old daughter of Prasanna Shirol, founder of the Organization for Rare Disease India (ORDI), has been in a coma for nearly two-and-a-half years, needing ₹1.2 crore annually to stay alive.

She is the first diagnosed case in India of Pompe disease- a rare inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells that damages muscles and nerves and causes other complications.

“It took nearly seven years for doctors to diagnose my daughter as suffering from the rare Pompe disease,” said Shirol.

Since cost of treatment for such patients can be exorbitantly high, these patients mostly rely on humanitarian grants.

“My daughter’s medicine cost is borne by a pharmaceutical company on humanitarian grounds. If I had to pay from my pocket, it would have been impossible. It’s not just the case with me, as the treatment cost for rare diseases is usually exorbitantly high and we look at the government to offer some relief,” he added.

In order to provide relief to millions of patients that are estimated to be suffering from rare disorders in India, the health ministry has been working on a draft National Policy for Treatment of Rare Diseases that will soon be made public for feedback from stakeholders such as state governments, advocacy groups, patients etc.

“Yes, the ministry is finalising the draft policy and it should soon be out for public consultation,” confirmed Preeti Sudan, secretary (health), government of India.

There is no universally accepted definition of rare disease; however, the World Health Organisation defines rare disease as an often debilitating lifelong disease or disorder with a prevalence of 1 or less per 1,000 population.

Different countries have their own definitions to suit their specific requirements, and according to the Indian Council of Medical Research (ICMR), it is one in 2,500 people or less.

Since India doesn’t know the exact disease burden, it is estimated, by the government applying global standards, that about 6-8% of country’s population (72-96 million) is affected by a rare disease.

The draft policy aims to address the unmet needs of patients suffering from rare diseases as high prices of drugs (a few crore rupees annually) keep them out of reach for most.

“At our centre, we see about 5,000-6,000 rare disease patients annually that are new, old and follow-up cases,” said Dr Ratna Puri, chairperson, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital.

ICMR is currently working on a registry of rare disease in India to get a fix on the disease burden.

Rare diseases include genetic diseases, rare cancers, infectious tropical diseases and degenerative diseases.

THE WHO DEFINES RARE DISEASE AS AN OFTEN DEBILITATING LIFELONG DISEASE OR DISORDER WITH A PREVALENCE OF 1 OR LESS PER 1,000 POPULATION