Rare but not invisible: Why thousands of Indians living with NF1 need urgent policy action

Rare should never mean invisible. Yet for thousands of families living with Neurofibromatosis Type 1 (NF1), a rare genetic disorder affecting an estimated one in 2,500–3,300 births in India, invisibility remains part of the experience, from delayed diagnosis to fragmented care pathways. As India strengthens its health care ambitions, rare diseases must move from the margins of policy discussion to the centre of action.

What is NF1?

Also known as von Recklinghausen disease, it is caused by a mutation in the NF1 gene, which encodes a protein called neurofibromin. This protein is responsible for regulating cell division, and its disruption can lead to uncontrollable growth of cells, resulting in tumours along various nerves in the body. While half of NF cases are inherited, the other half happen spontaneously. 

These tumours are usually non-cancerous, but their location and growth can cause a multisystemic impact, affecting the skin, skeleton, and nervous system. Beyond the characteristic café-au-lait (brownish) spots, patients may face complications such as optic gliomas (tumours on the visual pathway), bone deformities, and cognitive challenges like learning disabilities. 

The unpredictable nature of the disease often leads to social isolation and significant emotional distress. Research indicates that adults with NF1 are at a substantially higher risk for clinical depression, with one study finding a 55 per cent prevalence. Because it is a progressive, lifelong condition that varies in severity, NF1 demands a coordinated, multidisciplinary approach to care. 

Policy progress and future roadmap

The Government of India has laid a robust foundation through the National Policy for Rare Diseases (NPRD) 2021. The expansion of financial support to ₹50 lakhs for all rare disease categories is a monumental shift. Additionally, the increase in the number of Centres of Excellence (CoEs) to 15 provides the necessary infrastructure for tertiary care. 

While NF1 is currently outside the list of conditions eligible for financial support, its inclusion could help bridge an important policy-to-practice gap and provide much-needed clarity and support for affected families. Building on existing health care and rare disease frameworks, there is an opportunity to advance patient-centric solutions through the following potential approaches. Hence, to move the needle, the government can adopt several actionable strategies:

Building on the UMMID platform

The UMMID initiative by the Department of Biotechnology has laid a strong foundation for improving access to diagnosis and care for inherited metabolic disorders, including through Nidan Kendras and training programmes in genetic diagnostics for clinicians and faculty from public medical institutions.

There is scope to build further on this progress by improving access to advanced genetic testing for conditions such as NF1. Making such services more widely available across district-level health systems could help families receive earlier diagnoses, reduce dependence on high-cost private testing, and enable more timely clinical intervention.

Strengthening rare disease awareness among health care providers

Greater exposure to rare disease recognition within medical education and clinical training could support earlier identification of conditions such as NF1.

Frontline clinicians, especially paediatricians and physicians in smaller cities and district settings, can play an important role in recognising early signs and guiding families toward appropriate specialist care. Alongside this, awareness initiatives featuring patient experiences and clinical voices may help improve public understanding and move rare diseases from being poorly recognised to better understood within the broader health system.

Creating clearer pathways for approved therapies

For rare diseases where therapies have already received approval from the Drug Controller General of India, their consideration within the National Policy for Rare Diseases framework could help create a more consistent and predictable access pathway.

Linking policy-level inclusion with established regulatory approvals may support timely patient access, improve alignment across decision-making processes, and help ensure that approved innovations are appropriately reflected within India’s rare disease care framework.

Deepening the national rare disease data ecosystem

The ICMR Rare Disease Registry represents an important step toward understanding the burden and diversity of rare diseases in India. Further development of disease-specific, longitudinal data for conditions such as NF1 could provide valuable insights into disease patterns, progression, treatment needs, and the Indian patient experience.

Integration with digital health platforms under the Ayushman Bharat Digital Mission could also support continuity of care, improve patient follow-up, and help identify individuals who may be suitable for clinical trials or emerging treatment options.

Exploring sustainable models for long-term care

Conditions such as NF1 often require ongoing monitoring and multidisciplinary management rather than a single episode of treatment. While existing financial assistance can be valuable for immediate or high-cost interventions, many families continue to face recurring needs such as periodic imaging, specialist consultations, complication management, and supportive care.

A long-term rare disease care model, supported through collaborative financing approaches and public-private engagement, could help improve continuity, affordability, and sustainability of care.

Supporting families beyond clinical treatment

Families affected by rare diseases often need support that goes beyond diagnosis and medical intervention. Integrating genetic counselling, psychosocial support, caregiver education, and navigation assistance into public health services could help families manage the broader impact of NF1 more effectively.

Engagement with patient organisations can further strengthen awareness, reduce stigma, promote peer support, and ensure that patient and caregiver perspectives remain central to rare disease care planning.

If rare should not mean invisible, then the response cannot remain passive. The time has come to move NF1 and similar conditions from the margins of health care discourse to the centre of policy action.

This means bridging the gap between intent and implementation, through formal recognition within the NPRD, stronger diagnostic pathways, a multidisciplinary CoE, and sustained support for affected families. 

India has the opportunity to redefine what equitable health care truly means by ensuring that even those with the rarest conditions are seen, supported, and treated with urgency.

(Dr Sandeep Arora is the Medical Director, Biopharmaceuticals (BBU) & Rare Disease Business Units (RDBU), AstraZeneca India, and Dr Sankar V. H. is a Professor, Department of Medical Genetics, SAT Hospital, Government Medical College, Trivandrum, Kerala)

The opinions expressed in this article are those of the author and do not purport to reflect the opinions or views of THE WEEK.