September 1, 2025, 8:35:12 AM IST (Published)
CNBC-TV18 

Why India’s rare disease crisis demands a collaborative response
Given that half of all rare diseases manifest at birth, the argument for a robust, nationwide
newborn screening program is undeniable, notes Prasanna Shirol, Co-Founder & Executive
Director at Organization for Rare Diseases India.  –By Prasanna Shirol

Though individually uncommon, rare diseases collectively impact 70 million people in India. These conditions, numbering over 7,000, are often genetic (80%) and manifest at birth in half of all cases, leading to severe disability and premature death. They rob countless children of their developmental milestones, their
childhoods, and ultimately, their futures While the government’s National Rare Disease Policy is a good start, major challenges persist.

Core challenges on the ground

Diagnosis: The journey to an accurate diagnosis is a major obstacle, taking families an average of five to seven years. At ORDI, we regularly meet parents who
have spent years knocking on every possible door. This critical delay often leads to irreversible damage by preventing timely access to treatment.

Treatment and supportive care:
Even after a diagnosis, safe and evidence-backed treatments are often not available. Beyond the immense physical toll, patients and their families face significant psychosocial burdens, including isolation and stigma. This highlights the need for a dual approach of pursuing innovative treatments while providing comprehensive supportive care to manage non-medical challenges. While treatments can be expensive and may not be covered by insurance, affordability must never compromise patient safety.

Newborn screening:
Given that half of all rare diseases manifest at birth, the argument for a robust, nationwide newborn screening program is undeniable. Early detection is the key to unlocking timely  intervention, preventing irreversible harm, and giving these children the best possible start in life. For those with rare and life-threatening diseases, every single day matters.

Prioritizing safe and effective therapies
As we push for new and innovative drugs, a fundamental question must guide every decision, “Can one say ‘yes’ to a treatment when the science behind it is still a ‘maybe’?” This question is especially critical when dealing with children, as hope without evidence can do more harm than good. It is essential to prioritise treatments backed by rigorous science and clinical validation.

Children, in particular, are not just ‘small adults’ and require age-appropriate medications supported by solid clinical data. A USFDA study revealed that many ‘orphan drugs’ are used in children without being adequately studied for them. Making decisions based on cost rather than evidence can lead to poor outcomes and erode trust in the healthcare system. Every treatment must be scientifically proven to be safe and effective to ensure a better quality of life. Our fundamental responsibility to patient safety and scientific validation must always come first.

United path forward
The World Health Assembly (WHA) Resolution on Rare Diseases ,adopted in May 2025, marks a milestone in global health policy. Through sustained engagement with policymakers, evidence-driven advocacy, and coalition-building with patient groups and experts, patient advocacy groups (PAGs) played a pivotal role in shaping India’s position as a co-sponsor of the resolution, transforming patient advocacy into tangible policy change. There solution amplifies the voice of millions living with rare diseases and paves the way for accelerated national actions on equitable access to timely diagnosis, patient-centered care, and evidence-based treatments.

While these patient advocacy groups are committed to translating this global mandate into concrete, measurable action within India by actively working with multiple stakeholders to develop a comprehensive National Rare Disease Plan aligned with the WHA resolution. In this mission, key priorities include strengthening diagnostic infrastructure, expanding access to affordable treatments, integrating rare diseases into public health programs, and ensuring sustainable funding mechanisms. By bridging global commitments with local implementation, these organizations aim to ensure that the WHA resolution becomes a lived reality for every patient.

This is a heartfelt call to action for a cohesive, collaborative effort. The National Rare Disease Policy by the Government of India is a step in the right direction, with the National Consortium for Research and Development on Therapeutics for Rare Diseases driving the study of rare diseases towards better diagnosis and therapy.

Some judicial intervention has also taken place. The Delhi High Court’s judgment directed the Union Government to allocate₹974 crore to the National Fund for Rare Diseases (NFRD), and mandated specific functions for the National Rare Diseases Committee (NRDC). This decision aims to uphold the state’s responsibility under Article 21 of the Constitution to provide life-saving treatments for rare conditions.

Patient advocacy groups are also uniting the community and championing the cause with a clear, unified voice. They must be supported by industry through research, clinical trials, and sustainable pricing. Policymakers must create frameworks that encourage research and mandate post-market surveillance, with healthcare providers being trained for rare disease diagnosis and management.
Finally, government, corporations, and civil society must share responsibility for funding to make high-cost treatments accessible. The goal is twofold, to provide effective treatments when possible and compassionate supportive care when not, ensuring every child has the best chance at a full life.

—The author, Prasanna Shirol, is Co-Founder & Executive Director at Organization for Rare Diseases India (ORDI), a patient advocacy group. The views are personal.

*This is copied from from CNBC TV18 Access