The tragic death of 19-year-old child actress Suhani Bhatnagar from dermatomyositis, a rare disorder that causes inflammation in muscles, came in the same month as Rare Disease Day, which is marked today. The last day of February every year is consecrated to support crores of individuals who, because of their rare medical conditions, have long been neglected and stigmatised.
According to the World Health Organization, rare diseases afflict 1 or less per 1,000 population. Barely 5% of the over 7,000 known diseases worldwide are treatable. Most patients typically receive only basic treatment that alleviates symptoms. Some require exorbitantly priced antidotes and supportive medication throughout their lives, which they can’t afford. Suffering and death are the fate of many who are victims of rare diseases.
Rare diseases in India
India accounts for one-third of the global rare disease incidence, with over 450 identified diseases. These range from widely known ones such as Spinal Muscular Atrophy and Gaucher’s disease to lesser-known ones such as Mucopolysaccharidosis type 1 and Whipple’s disease. Though our country lacks a standard definition for rare diseases, a rough estimate suggests that about 8 crore-10 crore Indians suffer from one rare disease or another; over 75% are children. Yet these diseases are largely overlooked. Resource constraints apart, India languishes near the bottom on awareness, diagnosis, and drug development for rare diseases.
After many nudges from the courts, the Ministry of Health and Family Welfare formulated a national policy to treat rare diseases in 2017 but withdrew it in 2018 owing to “implementation challenges” and confusion regarding disease coverage, patient eligibility, and cost-sharing. A revised policy, the National Policy for Rare Diseases (NPRD), was announced in 2021, but problems persist. We still don’t define ‘rare diseases’, a failure the policy attributes to a lack of sufficient data, as if regular data collection and epidemiological assessments are not the government’s job.
Timely and accurate diagnosis is indispensable for the robust management of any disease, yet for rare disease patients, it takes an average of seven years for their conditions to be diagnosed (if at all). Physicians are generally unaware of how to interpret the signs and symptoms; healthcare professionals must be trained to improve their diagnostic accuracy. Expectant mothers with a history of rare diseases in their family must undergo mandatory pre-natal screening and post-natal diagnosis and care.
Less than 50% of the 450-odd rare diseases identified in India are treatable. Worse, treatments approved by the Drugs Controller General of India are available for just about 20 rare diseases and can be availed only from Centres of Excellence (CoEs). Since CoEs are few (12), unevenly distributed, and uncoordinated, late diagnosis, inadequate therapies and lack of timely availability are the norm.
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Funds are a major challenge too. The Budget’s allocation for rare diseases, although increasing over the years, remains low at ₹93 crore for 2023-2024, with previous years having seen reductions of up to 75% from the Budget Estimate stage to the Revised Estimates and an even worse reduction of 90% in actual expenditure. Under the NPRD guidelines, up to ₹50 lakh is allowed per patient, which will be disbursed to the concerned CoE. As chronic rare diseases usually require lifelong management and therapy, this amount is woefully inadequate. Consequently, the CoEs are wary of beginning any treatment that they may need to suspend later, leaving them vulnerable to judicial action from patients and their kin.
The confusion shows in the fund utilisation. For instance, more than ₹47 crore of the ₹71 crore financial assistance allocated to the 11 CoEs for the current year remains unused. There is no parity between CoEs, with Mumbai exhausting all its funds (while treating only 20 of 107 patients) and Delhi utilising less than 20%. And in a classic case of abdication of governmental responsibility, NPRD has urged the CoEs to crowdfund to treat rare disease patients. A portal with over 1,400 registered patients has collected less than ₹3 lakh in three years. Can crowdfunding ever be a sustainable national policy?
The way forward
Admittedly, the situation is not easy for the government, and to its credit, India has at least recognised rare diseases. However, the efforts are far from satisfactory. It is imperative for the Central government to frame a standard definition of rare diseases, increase budgetary outlays, dedicate funding for drug development and therapy, and increase the number of CoEs while also ensuring better coordination and responsible utilisation of funds. State governments must introduce social assistance programmes and develop satellite centres under the CoEs. Public and private companies could be co-opted for funding; CSR initiatives and partnerships can be leveraged to meet shortfalls.
Also read | NCP MP raises concern over rare diseases, says no patient has benefited from new policy
Finally, the issue of exorbitant drug prices and availability must be addressed. Last year, the government waived off GST and customs duty on medicines for rare diseases. But this exemption applies only to drugs which are to be “imported for personal use” and not to the ones commercially available in India. Given the exorbitant prices, how many patients can afford to import these life-saving drugs? Rare diseases cannot be left to market forces: there just aren’t enough market incentives for drug manufacturers. The government must incentivise domestic manufacturers under the Production-Linked Incentive Scheme, reduce clinical trial requirements in appropriate cases, and look into options such as repurposed drugs and bulk-import. But first, it must withdraw GST on life-saving drugs. While it is a race against borrowed time for most patients, February 29 reminds us that we can find a way around the rarest of problems.
Shashi Tharoor is third-term MP (Congress) for Thiruvananthapuram in the Lok Sabha and the Sahitya Akademi Award-winning author of 25 books; Shashank Shekhar is his Legislative and Legal Adviser
