In the field of rare diseases, in India, what did not happen for 20 years, was dramatically hustled through over the last couple of years. Consider this: the first National Policy on Rare Diseases was issued in March 2021, providing a comprehensive national approach to the prevention and management of rare diseases. It was nearly a dream come true for patients living with rare diseases and their families – the policy also factors in ways to lower the exorbitant cost of treatment, and boost indigenous research. The policy also envisages the creation of a national hospital-based registry of rare diseases, an intervention as crucial as funding for treatment itself, as it will provide rich epidemiological data to define the extent of the problem in India and decide optimal funding for research in rare diseases too. The Rare Diseases Policy also focuses on the creation of Nidan Kendras for early screening and prevention, as well as plans to strengthen extant secondary and tertiary health facilities at Centres of Excellence.
And yet, this World Rare Diseases Day (February 29) does give us occasion for pause; despite the stupendous pace of development in the recent past, it is important to periodically evaluate the needs in the community, and tailor requirements to meet those demands. It is also important to evaluate policy against implementation, to see if the goals are being achieved and the target groups benefiting from the intended gains.
An event held to create public awareness on rare diseases, in Mysuru on February 25, 2024. | Photo Credit: SRIRAM MA
What is a rare disease?
But first, a bird’s eye view of the rare diseases scenario here: In India, it is estimated that there are between 7000 - 8000 rare diseases, but less than 5% have therapies available to treat them. But, taken as a whole, rare diseases affect nearly 1/5th of India’s population, educated extrapolations indicate. A rare disease is one that is loosely defined as occurring infrequently in the population, and as such, what constitutes a rare disease varies from nation to nation. The World Health Organisation defines rare disease as an often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population.
However, different countries have their own definitions to suit their specific requirements and in the context of their own population, health care system and resources. For instance, in the US, rare diseases are defined as a disease or condition that affects fewer than 200,000 patients in the country (6.4 in 10,000 people). The European Union has its own definition - affecting no more than 5 in 10,000 people. India currently does not have a standard definition - but the Organisation of Rare Diseases - India, has suggested that a disease is to be defined as rare if it affects 1 in 5,000 people or less. The National Policy statement itself lays out: The landscape of rare diseases is constantly changing, as there are new rare diseases and conditions being identified and reported regularly in medical literature. Apart from a few rare diseases, where significant progress has been made, the field is still at a nascent stage.
Notwithstanding the rather significant developments, and a number of patients benefiting, the progress on the field still is at an infantile stage. The Union Government in May 2022 had allocated ₹50 lakh per patient for the treatment of all rare diseases across the country. How well was that utilised? We did not know until recently when Sashi Tharoor, Member of Parliament raised a question in the Lok Sabha, during the budget session, about the number of Rare Diseases patients enrolled with the Centres of Excellence across the country, and the details of the allocation and utilisation of funds by the different Centres of Excellence across the country during the last three years and till date, year-wise. The answer was quite disappointing. As per the data shared in response to the question, the Ministry of Health and Family Welfare disbursed to all the CEntres of Excellence a sum of approximatey ₹109 crore in the last three years. However, the total funds utilised so far is only approximately ₹53 crore. A whopping 51.3 % of the total funds allocated are still sitting pretty, while patients are losing lives with no access to treatment. There are now 12 Centres of Excellence, and of the 11 centres that data is available for, only three CoEs have utilised over 90 % of the funds allotted to them, and one Centre in the honourable mention, late 80 percentile mark.
Underutilisation of funds
Clearly the CoEs are not compelled by the sense of urgency that patients desperately seeking avenues for funding life-saving treatment are. Manjit singh, founder and president of the Lysosomal Storage Disorder Support Society says: “The underutilisation of allocated funds and the plight of patients who have exhausted their treatment allocations underscores the critical need for action. By advocating for these key initiatives, we aim to catalyse change, driving the CoEs to prioritise rare disease treatment and securing long-term funding support from the government for those in need.”
Speaking on behalf of patients, he adds: “We are driven by a dual mandate - to build urgency among Centers of Excellence (CoEs) for the immediate treatment of all eligible patients and to demand sustainable funding for Group 3 conditions. We believe that every rare disease patient deserves timely access to life-saving treatments, and we are committed to ensuring that this becomes a reality. Our efforts are not just about improving access to care; they are about saving lives and empowering individuals to lead fulfilling, meaningful lives despite the challenges posed by rare diseases. Also, the state governments need to pitch in here through budgetary allocations specifically for the treatment of eligible rare disease patients.”
The key asks of rare diseases patient advocacy groups, among the strongest lobbies in the health care sector now, are to build urgency on the part of the CoEs to start treatment of all eligible patients and build a continuum of care with sustainable funding support for conditions that necessitate long term care and treatment, classified by the National Policy as Group 3 diseases. There are, reportedly, 10 patients, children, from across the country who have already exhausted their Rs. 50 lakh allotment, and are currently running from pillar to post seeking continuation of their treatment. These patients need sustainable funding and continued treatment support to survive and lead normal lives.
Screening for disease
S. Suresh, managing director of Mediscan, is a senior radiologist who pioneered the argument for genetic testing for rare diseases, with a rare, nearly evangelical zeal. Two decades ago, he had made the point that it was important to set up pre-natal scan centres in the public health set up, to take the possibility of early detection, already available in the private sector, to the larger public. He acknowledges with relief that finally, an epidemiological transition might have happened. The change came with awareness generation and really hard work by advocacy groups. Organisations and parents put effort and energy into this, taking the battles to the courts and the streets. Gynaecologists and paediatricians are more aware about rare diseases, and people have started looking at birth defects, doing gene testing etc, besides vastly improved neonatal intensive care unit services in hospitals across the country leading to earlier and more accurate detection. What’s left, is to take care of the patient, he adds.
Not just that. Dr. Suresh has also been advocating for a national registry that people can report rare diseases to. “ The list of rare diseases needs to be really clarified. But, to say that is a tall order, we possibly will never be able to put all rare diseases inside. The most common ones, which are reported periodically, should be there in the list. But the registry would be a starting point at least.” It will have a registered cohort of rare diseases detected across the country and will be able to provide an idea of the geographic distribution of rare diseases. In addition to this, he is pushing the envelope on setting up a single centralised laboratory for detection of rare diseases for the entire country that will be able to perform enzyme assays and molecular genetic testing.
“The knowledge we will gain from this will be top class, even of inestimable value,” Dr. Suresh says. While a hospital-based National Registry for Rare Diseases has been initiated by the Indian Council for Medical Research by involving centres that are involved in diagnosis and management of rare diseases, it needs to be pushed through and actualised, he adds.
Through example, he is also trying to promote another model for delivery of care for children suffering from rare diseases. At the Voluntary Health Services hospital, in Chennai, which he heads, plans are afoot to establish a comprehensive centre with multiple experts to take care of the child for a few days at a stretch, so that the primary care giver can have some downtime. “Once there is a child with a rare disease, one of the parents is completely tied to the child. In most cases, it is the mother. It is only fair that we give them some respite for a day or two, so that someone else, can take over the care of the child for those days. We are trying to establish such a centre at VHS, we already have a rehabilitation centre, paediatric palliative care unit, and along with that, we want to build capacity for a multi-speciality clinic that can provide this respite to the mothers. Besides, it will also help forming a support group among parents, and be one centre where we can examine the patients and chart up plans tailored to each child’s (and caregivers’) requirements,” he says.
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