At the tender ages of 10 and 12, respectively, the siblings, Mayuri and Harshith, face struggles very different from those of other children their age. Each day, they endure challenges that most cannot imagine as they suffer from Gaucher disease, a rare genetic disorder that causes painful swellings, bone complications, and organ damage. Their treatment and well-being depend entirely on Enzyme Replacement Therapy, making it an essential — lifelong — necessity.
In India, an estimated 70-96 million people are living with rare diseases — conditions that affect a small percentage of the population but have a huge impact on those diagnosed. Around 80% of these diseases are genetic, and nearly 70% begin in childhood, often leading to severe disability or even early death. For families like Mayuri’s and Harshith’s, life revolves around hospital visits, painful symptoms, and lifelong treatments.
Some of the most observed rare diseases are Lysosomal Storage Disorders, such as Gaucher disease, Pompe disease, and Fabry disease. While LSDs can manifest at various ages, many cases in India are identified during infancy or early childhood — the average age of onset is approximately 3.5 years, with cases ranging from as early as 6 months to 13 years.
The National Policy for Rare Diseases was initially formulated in 2017 but came into effect in March 2021. The policy categorises rare diseases into three categories — Group 1: Disorders amenable to one-time curative treatment through bone marrow transplant or organ transplantation; Group 2: diseases requiring long-term treatment but with relatively lower cost of treatment; and Group 3: diseases for which treatment is costly and requires lifelong therapies. The policy aims to enhance access to timely diagnosis and treatment, promote research, and provide financial support to patients with rare diseases (financial assistance of up to Rs 50 lakh per patient), especially those from economically weaker sections.
The major challenges are faced by the patients suffering from Group 3A rare diseases as they require lifelong treatment such as ERT that can cost over Rs 25 lakh per year for a regimen requiring 26 vials, depending on the patient’s body weight. The current cap of Rs 50 lakh by the government is insufficient for these conditions. Thus, it is essential that the government establishes a sustainable funding mechanism for these patients to ensure continued medical treatment and support, upholding the rights of rare diseases patients.
The policy further outlines the establishment of designated Centres of Excellence across the country and includes provisions for crowdfunding to support treatment costs. However, currently, India has only 13 CoEs, which is insufficient given the burden and the growing number of rare disease patients across the country.
Moreover, the existing CoEs face several infrastructural and technical challenges that hinder their ability to be fully patient-centric. There is a lack of coordination and standardisation across these centres, leading to inconsistencies in treatment protocols. This makes it difficult for patients to stay informed about their diagnosis, treatment status, or timelines, often resulting in delays and prolonged waiting periods for essential medical care.
A major concern is the limited public awareness about these centres. Many patients and families are unaware of where to seek help or how to access the necessary support. To address this gap, the government, non-governmental organisations working in this field, and other private entities must collaborate to promote awareness about rare diseases. Such collaboration would ensure early diagnosis and timely treatment, particularly crucial for young children, who represent a significant portion of those affected by rare diseases.
Last year in October, the Delhi High Court directed the Centre to set up a Rs 974 crore National Fund for Rare Diseases for the fiscal years, 2024-25 and 2025-26. However, despite these judicial directives, there has been little or no progress on this front, leaving many patients and families in despair and concern.
One of the urgent requirements for patients with rare diseases is centres where they could be timely diagnosed and treated. India needs the immediate establishment of CoEs in each state. Despite this being in the plans of the government, there has been very slow movement on this crucial necessity.
Kerala has been the first state in India to provide children under the age of 12 suffering from Spinal Muscular Atrophy, another form of rare diseases under Group 3 B, with free medicines through a special scheme of the state government. Other states should acknowledge this development and also find means and funds to support children till the time the national policy starts to be effectively implemented in India.
Another aspect that should be explored is creating hub-and-spoke models in different states. This approach will increase access to specialised care for patients in geographically dispersed locations and enhance the quality of treatment and care, reducing unnecessary travel and hospitalisation of patients and, most importantly, provide optimised use of resources by centralising specialised services and distributing routine care.
Health being a state subject, the states must also proactively understand the importance of this issue and work towards providing comprehensive support to the patients. Most importantly, patient advocacy groups should be meaningfully included in policy-making decisions.
There should be continuous and strong coordination between the Central and state governments and health institutions. Currently, this is missing. Through close coordination and effective functioning among the Centre, patient advocacy organisations, and state governments, patients suffering from rare diseases can receive timely diagnosis and treatment, thereby offering hope and improved quality of life.
Prasanna Shirol is Co-founder and Executive Director, Organization for Rare Diseases India (ORDI). Gunjan Sharma is Manager, Public Policy, Chase Advisors