February 28 is celebrated as Rare Disease Day. A patient-led initiative, the day is a commemoration of action for the vulnerable population living with rare diseases, who require immediate and urgent attention. Despite the recognition of rare diseases as a significant public health challenge and India’s commitment to ensuring accessible healthcare, we grapple with fragmented policy responses.Story continues below this adRare diseases, though not identified with a uniform definition worldwide, are accepted as a health condition that affects a small number of people, as against diseases affecting the general population. Often the prevalence threshold of the disease is used by different countries to define and identify rare diseases. However, some countries also consider heritability, severity, available treatment options, and life-threatening nature to categorise them as rare diseases.In India, a policy on rare diseases was prompted in 2017 as a result of petitions by people with rare diseases before the High Court of Delhi. However, the policy faced criticisms, including lack of clarity, and transparency. One major hurdle in the implementation of the 2017 policy was the tension between the responsibility of the Centre and the states in responding to health measures which is identified as a State subject in the Indian Constitution. Recognising the challenges, the policy was kept in abeyance since.The Central government revised the policy, and a new policy was introduced in 2021, the National Policy for Rare Diseases (NPRD). It recognises the challenges in defining rare diseases and relies on the categorisation of the diseases by experts based on their clinical experience. The NPRD divides rare diseases into three different groups — diseases requiring one-time treatment; diseases requiring long-term treatment with established efficacy and relatively low cost; and diseases requiring long-term treatment with high costs and limited records regarding the efficacy of such treatment. While it acknowledges a range of rare diseases, the list is far from being comprehensive, thus excluding a substantial rare disease spectrum. The exclusion of other rare diseases from this list is aggravated by the lack of prevalence data that could inform the framing of a definition of rare diseases under it.Story continues below this adThe NPRD offers financial assistance of Rs 20 lakh (that was later increased to Rs 50 lakh) and seeks to improve the diagnosis, prevention and treatment of rare diseases by introducing accessible institutes acting as Centres of Excellence. This, however, is a far cry from the financial assistance available under the NPRD. For instance, the cost of treatment for Duchenne Muscular Dystrophy ranges from Rs 3 to 8 crore, while treatment for Spinal Muscular Atrophy could go up to Rs 18 crore.Despite the well-meaning efforts, the NPRD seems to be lacking. The gravity of the situation is evinced in the fact that the Delhi High Court itself was considering over 100 petitions filed by people suffering from varied rare diseases seeking access to treatment, even post the enforcement of the NPRD. In addition, similar petitions seeking access to drugs for rare diseases such as Spinal Muscular Atrophy and Gaucher disease have been filed before the High Courts of Kerala and Madhya Pradesh. To overcome the financial challenges, the central government has also set up a digital portal wherein patient’s cases and their details are routinely updated for voluntary donors to support such patients. Attempts were made to address financial challenges in 2023 by providing exemptions on customs duties on all drugs and food imported for personal use for the treatment of all rare diseases listed under the NPRD. However, as seen in the petitions before the courts, the crowdfunding and custom exemptions are not sufficient. At times, patients have lost lives awaiting sufficient funding to access treatment.Given the nature of treatment requirements, insurance plays a key role in aiding financial support. Towards this, the Insurance Regulatory and Development Authority (IRDA) issued a circular in 2020 stating that exclusions relating to “internal congenital diseases, genetic diseases or disorders” are disallowed in insurance policies. While this is a welcome step, the absence of explicit mention of rare diseases in the circular is exploited by the insurance companies to either refuse to issue a policy or charge a discriminatory premium to persons living with rare diseases.most readWhile legislative measures like compulsory licenses on patents and price capping of drugs related to rare diseases may be considered, the fundamental obstacle remains: To make the treatment available in India. Though some companies that own patents over rare disease drugs are making them available under the patient access program, these initiatives act only as an interim solution for a small number of affected populations.There is a need to incentivise indigenous innovation and the production of treatments for rare diseases. Further, policymakers should ensure that treatment is not only available but also affordable. The onus should also lie with the pharmaceutical companies to work with governments in formulating strategies to allow expedited and timely access to treatment. Such collaboration will perhaps align with the level of care that persons with rare diseases are entitled to.Priyam Lizmary Cherian is a lawyer and Saraswathy Vaidyanathan is an Assistant Professor, School of Law at BML Munjal University