An estimated one in twenty Indians suffer from an illness classified as a “rare disease”. Fifty percent of these cases afflict children. Despite this, the illnesses remain neglected, both in terms of funding for research, as well as public awareness.
Rare disease day, aiming to spread awareness
February 28 marked International Rare Disease Day 2019. Though the day does not typically focus on any singular disease, efforts have been made by numerous groups within India to bring greater awareness to rare diseases as a whole.
Suno India launched India’s first podcast on rare diseases. Titled ‘1 in 20,000’, the podcast series will feature six episodes hosted by former journalist Avantika Shrivastava. Such broadcasts and publications will assist in bringing more knowledge to the public, potentially allowing people to better recognise and seek help for symptoms.
Other efforts to spread awareness have seen wider contributions from members of the public. ‘Race For 7’ is an initiative championed by the Organization for Rare Diseases India (ORDI). The race took place in Mumbai to raise awareness for rare disease patients. Race for 7 symbolically represents over 7,000 rare diseases with 7,000 people running for seven kilometers — the average number of years it takes to diagnose a rare disease.
The event was also held last year on February 25. Simultaneous seven-kilometre walks/runs were held in Bengaluru and Mumbai. Coinciding with the Indian races, there was also a walk in Washington, DC. Only around sixty attendees were present at the event in Washington, DC. The turnout in India was more impressive, with over 1,500 attendees in Mumbai, and around 3,500 in Bangalore.
Public awareness can only go so far
Despite positive contributions from the public and various organisations to spread awareness, this rise in public knowledge can only help to an extent. As the name implies, rare diseases are infrequent. Though they cumulatively affect millions of people, each disease within the classification has a low overall number.
Though the classification has no formal definition, it is loosely considered that those diseases that affect fewer than 5-7 people per 10,000 population are deemed “rare diseases”. Many of these diseases are genetic conditions with no known cure. The diseases are often highly expensive to treat (if treatable at all) due to targeted medications being limited.
The numbers reported by Down to Earth indicate the extent of the issue “there are 7,000–8,000 rare diseases, but less than 300 have therapies available to treat them. About 95 per cent rare diseases have no approved treatment and less than one in 10 patients receive disease specific treatment.”
Treatments are lacking due to the small degree of funding for research into each disease. As many can be very specific genetic conditions, there will be no cure, symptom management may take the form of very generalised pain management treatments. However, for many other diseases such as infectious diseases limited to small areas in sub-tropical regions, research into a cure will simply not be funded enough due to the disease only affecting a handful of people, making it low on the priority list of funding organisations.
“Shattered hopes” government funding delayed
The National Policy for Treatment of Rare Diseases (NPTRD) has been in the works since 2009. The bill was initially passed on May 25 of 2018. Under the policy, a potential ₹100 crore was to be allocated to the research and treatment of rare diseases. Last year, the Centre abruptly withdrew the policy.
A gazette notification issued on December 19, 2018 by the Union Ministry of Health and Family Welfare stated, “The central government has decided to review the policy in light of information and updates received for further improvement. It has been kept in abeyance till a revised policy is issued.”
Groups have appealed to the government, in many cases the temporary removal of funding leaves lives on the line. Mr. Manjit Singh, president, Lysosomal Storage Disorders Support Society said: “We appeal to the Central Government for their urgent intervention in honouring its commitment towards rare disease patients in India. We request the government to immediately revoke the ban on NPTRD and, as outlined in the policy, immediately release the corpus fund with initial amount of ₹100 crore towards funding treatment of rare diseases.”
With funding for healthcare in India stagnating, the budgetary allocation presents a situation where some areas will lose out. Funding is not available for all areas of healthcare.Unfortunately, rare diseases fall low on the priority list.