Rare diseases are medical conditions that individually affect a small proportion of people but when seen collectively, show a massive global health concern. In fact, 1 in 20 Indians are impacted by rare diseases, so this is a matter close to Indians as much as it is for the rest of the world. More than 7,000 rare diseases have been reported across the world, spanning inherited cancers, autoimmune conditions, congenital malformations and metabolic diseases such as lysosomal storage disorders. A defining biological characteristic of these conditions is their genetic origin. Close to 80% of rare diseases are genetic, caused by mutations in a single gene, and around half are present at birth while the rest surface later in life.
A Silent Crisis in Our Neighbourhoods
Rare diseases affect an estimated 350 million people globally, with significant numbers in regions like the USA and EU. In the United States alone about 30 million people live with one or more rare conditions, and a similar number is estimated in Europe. As far as India's population is concerned, approximately 70 million are affected by rare diseases and a majority of them are children. These figures underline the high cumulative burden of rare diseases in India, further attributable to high degree of marriage within the same community or among close relatives, and genetic founder effects.
Why rare diseases are tough to diagnose
Irrespective of their prevalence, rare diseases pose formidable diagnostic challenges. Patients many times undergo years of uncertainty, consult multiple specialists and repeat tests before attaining the right diagnosis. Global patient surveys and organisational reports reveal that the average time to diagnosis is five to seven years, highlighting the pervasive problem of delayed recognition.
This "diagnostic odyssey" takes root from two related issues: the individual rarity of each condition and the lack of awareness about them among healthcare professionals. When clinicians encounter symptoms that do not fit common conditions, it extends uncertainty and at times leads to irreversible disease progression, often too late for early intervention in select few diseases. All these lead to high financial costs to families and to the healthcare delivery system.
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Therapeutic gaps and orphan drugs
Despite years of progress, treatment availability remains limited. There are only around 1300 approved designated orphan drugs worldwide, and over a thousand are currently in various phases of clinical development. However, studies show that only around 5% of rare diseases have an FDA-approved drug and up to 95% of rare diseases still have no specific approved treatment, underscoring the relative scarcity of approved treatments.
Costs and access barriers
The steep cost of specialised therapies compounds the problem of limited availability. Treatments such as enzyme replacement therapies for lysosomal storage disorders can amount to multiple lakhs of rupees per patient annually. While industry-supported charitable access programmes do enter the market for some patients, these are only partial solutions and are not widely available.
In India, patients with specific genetic conditions face similar barriers to treatment. Struggles among rare disease families to secure short-term and long-term therapy and treatment funding within existing public programmes or crowdfunding platforms continues till date.
Awareness as the first cure
Awareness, among clinicians, patients, policymakers and the public, is the most immediate and achievable intervention. Clinicians need to recognize the red flags such as developmental delays, regression of milestones, unusual physical features or chronic and unexplained symptoms. When clinicians understand the possibility of rare conditions in prior, they can recognize symptoms that do not fit the usual mold, and initiate suitable genetic tests and specialist referrals, in turn reducing the multi-year diagnostic delay.
Public awareness also plays a critical role in supporting patient advocacy, reducing stigma and encouraging systematic data collection.
At the policy level, knowing the scale and impact of rare diseases can speed up the development of sustainable funding models for basic and translational research and therapy, carrier screening and newborn screening programs, regulatory incentives and natural history of disease or basic rare disease registries. While scientific breakthroughs in therapies may evolve in time, awareness can improve diagnosis, care pathways and quality of life.
Rare diseases collectively affect millions of lives. In India alone, 1 in 20 people is estimated to live with a rare disease. This reality emphasises that awareness is important for improving outcomes, lessening time to diagnosis, and driving policy responses that can save lives.
(By Dr Sudheendra Rao N R, MBBS, PhD, Scientific Advisor, Organization for Rare Diseases India)
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