Why diagnosis, treatment, drugs are hard to come by for patients of rare diseases

India's health sector is confronting the monumental challenge of diagnosing and treating rare diseases despite a national policy identifying 63 such diseases for financial support.

The National Policy for Rare Diseases (NPRD), which promises up to Rs 50 lakh per patient for treatment at centres of excellence, falls short for many, especially children with lysosomal storage disorders including Gaucher, Pompe and Niemann-Pick diseases.

Challenges in diagnosis, medication

A study by Lancet, titled 'Landscape for Rare Diseases in 2024', highlights the genetic roots of approximately 80 per cent of the rare diseases, with a significant 70 per cent manifesting in childhood itself.

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Despite this, nearly 95 per cent of these diseases do not have approved treatments and diagnosis can take from four to eight years. Alarmingly, 30 per cent of affected children do not live past the age of five.

The Institute of Child Health in Tamil Nadu stands as the sole hub providing the much-needed treatment for rare diseases in children. However, challenges persist in diagnosis, medication availability, research funding and the overarching financial burdens faced by families of the ill children.

Lifesaving drugs crisis

Sivaraj, an electrician, shared his harrowing experience of trying to secure treatment for his two-and-a-half-year-old son diagnosed with spinal muscular atrophy (SMA).

The required medicine, Zolgensma, is not available in India, and costs Rs 16 crore in the US, far beyond the reach of the government grant and crowdfunding efforts.

The Tamil Nadu government has appealed to the Union government to cut customs duty and GST for lifesaving drugs related to rare diseases which are not available domestically.

Additionally, the absence of a rare diseases registry in hospitals has been flagged as a critical gap in the management and understanding of these conditions.

The concern of unavailability of drugs also roots from the absence of a registry of rare diseases in the hospitals attending and treating such cases.

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"There is a need for a registry for rare diseases to understand the prevalence and to streamline genetic testing, medications and therapy for the same," said Dr S Srinivasan, a former state neonatal intensive care unit coordinator of Tamil Nadu.

Orphan drugs

The policy on rare diseases seems to have offered a hope for those struggling to fund the medications but the grant is also delayed in most cases.

Dr Srinivasan said there were new drugs that can be more affordable but they were not being procured in the country.

"The drugs are either not available or are not sustained for a long time in the market because they are orphan drugs, i.e. drugs used for the treatment of a small group of diseases and the demand is limited," he added.

Crowdfunding portal

A concerning aspect brought to light by experts is the limitation of the allocated budget. With Rs 118.82 crore allocated for 2024-25 and Rs 255.59 crore for 2025-26, affordability remains a dire issue as treatment costs can spiral up to Rs 10-16 crore per person.

To address these challenges, the Union Health Ministry introduced a portal for philanthropic contributions and underlined the continual need for enzyme or drug therapy for patients, which, given the financial constraints, is often discontinued when costs exceed Rs 50 lakh.

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Genetic labs

Experts have also emphasised the importance of primary and secondary prevention, including neonatal testing to identify risks early.

The Tamil Nadu government's initiative to establish genetic labs in Madurai and Coimbatore reflects a move towards bolstering testing of newborns and pregnant women for any rare diseases.

However, the cost of genetic testing, along with the challenges of follow-ups, false positives/negatives and treatment unavailability, deter many families from opting for it.

Required reforms

Dr Sheetal Sharda from the Neuberg Centre for Genomic Medicine advocates genetic screening and prenatal diagnosis to pre-emptively manage the risk of rare diseases, highlighting the potential of newborn screening to alleviate financial and emotional burdens on families.

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While NPRD offers a glimmer of hope, its implementation is riddled with challenges, emphasising the need for enhanced funding, research and accessible treatment to truly make a difference in the lives of those afflicted by rare diseases.