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 Rs 1.2 crore annually to stay alive.
She suffered a cardiac arrest and slipped into coma after her portable ventilator that she was on failed while she was in college in Bengaluru.
Since then the girl has been bedridden in a comatose state at home in Bengaluru.
Shirol’s daughter is the first diagnosed casein 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.
She would suffer from frequent infections, indigestion and had delayed milestones by the time she reached six months of age.
She had to be hospitalized for a while after diagnosis , and was later put on portable ventilator to ensure she is able to remain up and about,” 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 born 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 Union health ministry plans policy for rare diseases treatment that will soon be made public for feedback from stakeholders such as state governments, advocacy groups, patients etc.
“Yes, the ministry is finalizing the draft policy for rare diseases treatment 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 estimatedby the governmentapplying international standards that about 6-8% of country’s population (72-96 million) is affected by a rare disease.
The draft policy for rare diseases treatment aims to address the unmet needs of patients suffering from rare diseases as high prices of rare disease drugs (running up to a few crore rupees annually) keep them out of reach of almost all patients.
In most cases the illness is serious, chronic, debilitating and life-threatening, often requiring long-term and specialised treatment.
“At our centre we see about 5,000-6,000 rare disease patients annually that are new, old and follow-up cases. It’s an absolutely unmet need, and individually they may be rare but collectively they aren’t so rare. There’s treatment but just because they are born in India there isn’t adequate access to treatment,” said Dr Ratna Puri, chairperson, Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital.
Having a national policy for rare diseases treatment will help in devising a targeted approach to tackle rare diseases comprehensively, with the main focus on arriving at a standard definition, generating epidemiological data to estimate exact disease burden and treatment cost estimation. ICMR is currently working on a registry of rare disease in India to get a fix on the disease burden.
While an estimated 6,000 to 8,000 rare diseases exist globally, about 80% of all rare disease patients are affected by around 350 rare diseases.
Rare diseases include genetic diseases, rare cancers, infectious tropical diseases and degenerative diseases. About 80% of rare diseases are genetic in origin, and tend to largely impact childrPompe disease