One step forward and two steps backwards – the foxtrot aptly summarises the gains from India’s rapidly evolving Rare Diseases Policy landscape.
Undeniably, the past year has highlighted the government’s best efforts towards providing an equitable and supportive institutional framework.
But basic gaps remain such as the lack of sustained support that impacts the momentum of treatment.
The country’s journey in addressing the needs of rare disease patients has seen some progress after the announcement of the National Policy for Rare Diseases (NPRD) 2021.
Earlier, the absence of a dedicated institutional framework posed huge challenges for patients with rare diseases and their caregivers.
However, the introduction of the NPRD and many positive developments to date mark a major milestone in recognising and addressing the unique healthcare needs of this vulnerable segment.
While the policy offers funding provisions under Group 1 and Group 2, ultra-rare disorders requiring chronic treatment with DCGI-approved (Drug Controller General of India) therapies are categorised in Group 3.
Notional Benefits Won’t Work
Significantly, NPRD has outlined a comprehensive blueprint for managing rare diseases in India. For better therapeutic outcomes, NPRD has prioritised institutional support for the treatment of diseases based on clinical evidence and outcomes.
During the initial period, the impetus for funding support for the treatment of all rare disease patients was missing.
However, in May 2022 the government took a major leap of faith and announced Rs 50 lakh funding support for the treatment of rare disease patients across 11 Centres of Excellence (CoEs) pan-India.
Finally, between February and May 2023, Rs 40 crore was released collectively to all CoEs for beginning the treatment of rare diseases.
Additionally, the NPRD stipulated crowdfunding to mobilise financial support from non-state entities for treating rare diseases. All CoEs were mandated to register eligible patients on the crowdfunding portal for treatment.
Presently, there are about 570 patients registered on this portal.
Of the approximately 570 Group 3 patients enlisted for treatment support, nearly 50 percent are suffering from treatable Group 3(a) disorders.
As per the NPRD 2021, Group 3(a) disorders have DCGI-approved therapies and clinical evidence of patients on therapy leading near-normal lives. These patients suffer from genetic disorders such as Gaucher, Pompe, Fabry and MPS I and II, among other conditions.
The importance of a sustained funding mechanism is essential to ensure that the treatment of these patients does not stop after the initial amount of Rs 50 lakh is exhausted.
These chronic disorders need lifelong management via Enzyme Replacement Therapy. It is only through continued monetary assistance from the government that such patients could hope for a brighter tomorrow.
Why Sustained Support Counts
Despite the disbursement of funds, these patients have been running from pillar to post because the CoEs are unwilling to commence treatment since there is no commitment from the government regarding the continuation of funding beyond Rs 50 lakh per patient.
The CoEs fear judicial action from patients once the Rs 50 lakh corpus is exhausted. Moreover, the CoEs are choosing only some diseases for treatment and turning away other eligible patients suffering from rare diseases not shortlisted by them.
Sadly, after having waited patiently for so long to welcome the policy announcement and the release of funds, the on-ground condition of patients remains unchanged as treatment is being withheld by the CoEs. In essence, these patients are waiting for the inevitable.
As per recently revealed data by the MoHFW in response to a question by Lok Sabha MP Dr Shashi Tharoor, it has been made known that of the Rs 109 crore disbursed by the Ministry to the 11 CoEs over a period of three years, only a little over 48 percent of this amount has been utilised for the intended purpose.
The remaining amount is still lying unused and can be used to save so many more lives, but sadly isn’t.
The criticality of sustained funding for rare disease treatment cannot be overemphasised. Since only a small section of the population is affected by rare diseases, it becomes difficult to attract investment from pharmaceutical companies and government agencies.
Yet, without sustained funding support from policymakers, patients with rare diseases will not have continued access to life-saving drugs and therapies.
In this scenario, only a sustained funding model can ensure that eligible patients receive continued treatment and care, which is critical for managing chronic conditions.
Extend Continual Support For Rare Disease Patients
To ascertain continued treatment for eligible rare disease patients in India, the government should establish a dedicated yearly fund to support the uninterrupted treatment of rare disorders.
While the Ministry of Health and Family Welfare (MoHFW) has not made any official statement about the extension of financial help, there have been indications and an intent to extend support on a year-on-year basis.
A team of specialists constituted by the MoHFW needs to examine each case of every rare disease patient and based on this examination, recommend a continuum of treatment to those showing improvement from the therapy administered by utilising the initial corpus of Rs 50 lakh.
The policy benefit must also be extended to more patients. For example, those not yet diagnosed and those still awaiting help.
Lack of access to proper medical care, steep treatment costs, and inadequate funding have led to a constant struggle for rare disease patients in India.
By establishing a predefined, viable, and sustained funding mechanism, the government can help these patients receive the much-needed treatment without facing financial hurdles. In turn, this would make the government’s efforts more meaningful.
It is high time the needs of rare disease patients are taken up on a war footing so that they receive the much-needed, long-overdue treatment they fully deserve.
All this being said, while there is no denying the fact that there have been advancements in the field of rare diseases in India, there is still a long way to go.
With the hope of a sustainable funding programme dedicated specifically to rare diseases to be announced soon, here’s hoping each eligible patient can focus on their healthy future rather than whether their next ERT session will happen on time or not.
(Dr Sunita Bijarnia is a genetic consultant based in New Delhi who offers counselling to patients or relatives at risk of inherited disorders. She is part of the Centre of Medical Genetics at the Sir Ganga Ram Hospital. This is an opinion article and the views expressed above are the author’s own. The Quint neither endorses nor is responsible for them.)
(At The Quint, we are answerable only to our audience. Play an active role in shaping our journalism by becoming a member. Because the truth is worth it.)