From diagnostic odyssey to zero bleeds: Experts urge systemic reform in rare disease care

Following February’s Rare Disease Day, medical experts renewed calls for urgent reforms to address India’s rare disease challenges, including hemophilia prophylaxis as standard care, national MS registries, genomic diagnostics and holistic management to curb disability and economic hardship.

While each rare condition affects a relatively small number of individuals, collectively they impact millions of families worldwide. In India, specialists say, delayed diagnosis, limited awareness and high out-of-pocket expenses have compounded the challenge.

Hemophilia: From reactive care to prevention

Dr. S P Verma, Additional Professor and Head of Clinical Hematology at KGMU (Lucknow) highlighted hemophilia as a significant example. Hemophilia is a rare, inherited bleeding disorder in which the blood fails to clot normally due to deficiency of clotting factors. Even minor injuries can lead to prolonged bleeding, and severe cases may result in spontaneous internal bleeds, particularly in joints, leading to chronic pain, disability and diminished quality of life.

India is home to the world’s second-largest population of persons with hemophilia, underscoring the scale of the issue. The socio-economic burden, Dr. Verma said, extends beyond medical complications, affecting schooling, employment and financial stability for families.

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Dr. Verma emphasised a paradigm shift in care from on-demand therapy, administered after a bleed occurs to prophylactic treatment involving regular replacement therapy to prevent bleeding episodes. According to Dr. Verma, prophylaxis protects joints, reduces disability and can lower long-term healthcare costs. Innovative therapies, including subcutaneous options with flexible dosing intervals of up to four weeks, are further transforming outcomes.

“A life with zero bleeds is no longer aspirational—it is achievable for many with appropriate access,” he said, urging India to adopt prophylaxis as the standard of care.

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Multiple Sclerosis: Invisible disability, visible gaps

Dr. Rajiv Anand, Principal Director of Neurology at BLK Max Super Speciality Hospital, pointed to Multiple Sclerosis (MS) as another major concern. MS is a chronic autoimmune neurological disorder affecting the central nervous system and predominantly impacts women aged 20 to 40 years, the most productive years of life.

India’s MS prevalence is estimated at 11 per 100,000 people, translating to roughly 165,000 patients. Yet, experts say it remains underserved under existing policies. Delays in diagnosis and access to high-efficacy, disease-modifying therapies can result in disease progression and irreversible disability—much of which is preventable with timely intervention.

Dr. Anand called for a national registry for MS to ensure reliable prevalence data and facilitate its recognition within rare disease frameworks. He also flagged concerns under the Rights of Persons with Disabilities Act, 2016, where eligibility for benefits is tied to a 40% disability benchmark. Given MS’s fluctuating and often invisible symptoms such as severe fatigue, cognitive impairment, visual disturbances and muscle spasms—many patients struggle to qualify for support despite substantial functional impairment.

He warned that rigid thresholds risk excluding deserving individuals from financial aid, workplace accommodations and social protection schemes.

Diagnostic odyssey and the promise of genomics

Dr. Arpna Bansal, Consultant in General Paediatrics at Paras Health Panchkula, explained that many rare diseases stem from genetic mutations and often begin in childhood. Because symptoms can mimic common illnesses or remain hidden, patients frequently endure a prolonged “diagnostic odyssey,” consulting multiple doctors over years before receiving an accurate diagnosis.

Systemic barriers including lack of awareness among primary care providers, inadequate genetic testing facilities, high costs and limited new born screening further delay intervention.

However, advances in genomic medicine are offering renewed hope. Technologies such as next-generation sequencing (NGS), whole exome sequencing (WES) and whole genome sequencing (WGS) now enable faster and more precise identification of underlying genetic causes. Early genetic diagnosis facilitates targeted management, reproductive counselling and, in select cases, access to precision therapies.

The integration of genomics in neonatal and paediatric intensive care units has already improved diagnostic accuracy and shortened time to treatment, she noted.

Gene therapy and multidisciplinary care

Modern medical advances, particularly gene therapy, are changing the treatment landscape for certain rare genetic disorders. Unlike conventional treatments that manage symptoms, gene therapy aims to correct or replace defective genes. Some therapies have already received regulatory approval globally for conditions such as spinal muscular atrophy and inherited eye and blood disorders.

However, eligibility depends on confirmed genetic diagnosis, disease stage, age, organ health and regulatory approvals. High costs remain a significant hurdle, particularly in low- and middle-income countries.

Dr. Bansal stressed that rare diseases require a holistic, multidisciplinary approach involving paediatricians, neurologists, geneticists, rehabilitation experts, psychologists and social workers. Long-term follow-up is critical not only to monitor disease progression and treatment response but also to support psychosocial well-being and caregiver resilience.

A call for systemic reform

Experts collectively emphasised that rare diseases are not isolated clinical challenges but a broader public health concern. They called on policymakers to prioritise rare and autoimmune disorders within the national health agenda through dedicated schemes, improved diagnostic pathways, sustainable access to innovative therapies and more inclusive disability assessments.

As India observes Rare Diseases Day, clinicians say the goal must shift from merely managing complications to preventing them, ensuring dignity, productivity and a better quality of life for millions affected by rare conditions.