By Fauzia Khan
Rare diseases are complex genetic disorders that specifically impact children – almost 50% of the new cases occur among them – causing 35% of deaths before age 1, 10% between ages 1 and 5 and 12% between 5 and 15 years. As a complex, heterogeneous field, the diagnosis and treatment of rare disorders needs a sustainable support mechanism. Serious, chronic, debilitating (sometimes causing severe handicap) and fatal, the disorders often need long-term, specialized treatments/management.
Although more than 450 rare diseases have been identified in the country, less than 50% are treatable. The DCGI (Drugs Controller General of India) approved treatment is currently available for only around 12-15 of them, including LSDs (Lysosomal Storage Disorders) such as Gaucher disease, Pompe disease, Fabry disease and MPS I.
The health expenditure incurred on these diseases runs so high it eventually impoverishes patients’ families. Requiring a life-long, therapeutic approach to management, the only available treatment for LSDs – classified as Group 3(a) rare diseases in India – is through Enzyme Replacement Therapy (ERT).
Institutional Funding the Need of the Hour
India’s National Policy for Rare Diseases was finalised and notified by the Ministry of Health and Family Welfare on 30 March 2021. Subsequently, a voluntary crowdfunding digital platform was launched, seeking contributions from individuals and corporate donors for treating the life-threatening genetic conditions that disproportionately affect children.
Currently, 237 patients (mostly children) are awaiting treatment support via crowdfunding. But the Centre has only managed to mobilise a meagre amount of INR 1.15 lakh, which is inadequate for treatment. Therefore, no patients have been treated.
Conversely, 96% of Rashtriya Arogya Nidhi’s allocation meant for treating Group 1 Disorders remains unspent in recent years. This amply demonstrates the government’s lack of commitment to treating these patients. Without institutional funding, several patients have already lost lives and numerous more are at stake. Since 2018-19, the Centre had allocated INR 184 crore for rare diseases. Regrettably, only INR 7.2 crore has been utilized to date. An additional amount of INR 3 crore has been set aside for treatment of LSD patients in Karnataka after a high court order, which was subsequently ratified by the Supreme Court.
The adage, ‘Where there is a will, there is a way’, holds true for states in Southern India, which have risen to the occasion by developing a proof of concept in treating rare disease patients. Whereas Karnataka is running this programme for almost five years, Kerala and Tamil Nadu have allocated funds from the State Exchequer to provide lifesaving therapies to some of these children. Karnataka has reportedly spent approximately INR 40 crore on providing treatment and other life support to patients diagnosed with rare disorders.
The health departments of these three states have also written to the Centre to assist the initiative by providing a matching grant to sustain the programme, besides expanding treatment support to other eligible patients awaiting funding for a long time.
Immediate Call to Action
Without government support for treatment, several patients – mostly children – have already lost their lives in the interim. Lack of immediate funding support for the treatment of eligible patients with treatable conditions may result in the death of many others. According to conservative estimates, nearly 45 patients have passed away while awaiting treatment.
There are rising cases across several states, including eight children from Maharashtra and two from Rajasthan, who have lost their lives while awaiting treatment support. Given that crores of funds for the treatment of rare disorders is lying unused in the Central coffer, this is an appalling state of affairs.
Several countries – including developing economies such as Brazil, Argentina, Algeria and Egypt – have robust reimbursement mechanisms (often 100%) for treating rare diseases or have earmarked funds in their healthcare budgets specifically for these purposes.
The Centre must develop a holistic approach to implement its National Policy for Rare Diseases. This also means addressing areas left unattended, including the provision of sustainable treatment support for treatable disorders. A group of Parliamentarians has taken up these issues with Union Minister for Health and Family Welfare Mansukh Mandaviya, who is positive about addressing the challenges.
During the ongoing Budget Session of the Parliament, a group of senior MPs submitted a memorandum to Union Health Minister Mansukh Mandaviya seeking immediate intervention by the Centre. The memorandum proposed a four-point agenda for sustainable treatment support for rare diseases patients, including a National Program on Rare Diseases with a budgetary allocation of a minimum of INR 100 crore.
Now, the Centre needs to urgently display its resolve in helping children and other patients with rare diseases – who have limited time left, if untreated – to begin their lifesaving treatment.
(The author is a Rajya Sabha member from Maharashtra. The article is for informational purposes only. Please consult medical experts and health professionals before starting any therapy, medication and/or remedy. Views expressed are personal and do not reflect the official position or policy of the Financial Express Online.)
