The Union Health Ministry has recently included six rare diseases into various groups of disorders under the National Policy for Rare Diseases (NPRD), 2021, enabling the patients of these diseases to avail financial assistance for the treatment of these diseases. Laron’s Syndrome, Wilson’s Disease, Hypophosphatemic rickets, Congenital Adrenal Hyperplasia (CAH), Neonatal Onset Multisystem Inflammatory Disease (NOMID) and Atypical Hemolytic Uremic Syndrome (AHUS) are the six rare diseases which have been included in the various groups of disorders under the National Policy for Rare Diseases (NPRD), 2021. Earlier in March 2021, the health ministry had released the NPRD for the treatment of rare disease patients and had categorised the rare diseases into three groups. In the policy, the patients have been categorized into three groups as disorders amenable to one-time curative treatments (Group I), diseases requiring long term or life-long treatments but the treatment cost is low (Group II), and diseases for which definitive treatment is available but the cost is very high and the treatment has to be life-long (Group III). A rare disease, often known as orphan disease, is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population. WHO defines rare disease as an often debilitating lifelong condition or disorder with a prevalence of one or less per 1,000 population. There are over 7,000 rare diseases globally and about 450 of them have been reported in India. The most common rare diseases reported in India include haemophilia, thalassemia, sickle-cell anaemia and primary immuno deficiency in children, auto-immune diseases, lysosomal storage disorders such as pompe disease, hirschsprung disease, Gaucher’s disease, cystic fibrosis, haemangiomas and certain forms of muscular dystrophies.
There are an estimated 300 million rare disease patients worldwide of which 70 million are in India. But, for most of these patients, no treatment or very limited treatment options are available. The field of rare diseases is very complex and heterogeneous and prevention, treatment and management of rare diseases have multiple challenges. Early diagnosis of rare diseases is a major challenge owing to a variety of factors that include lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities, etc. There are also fundamental challenges in the research and development for the majority of rare diseases as relatively little is known about the pathophysiology or the natural history of these diseases particularly in the Indian context. Rare diseases are also difficult to research upon as the patient pool is very small and it often results in inadequate clinical experience. Availability and access to medicines are important to reduce morbidity and mortality associated with rare diseases. Despite progress in recent years, effective or safe treatment is not available for most of the rare diseases. Hence, even when a correct diagnosis is made, there may not be an available therapy to treat the rare disease. There are between 7000-8000 rare diseases, but less than 5 per cent have therapies available to treat them. About 95 per cent rare diseases have no approved treatment and less than 1 in 10 patients receive disease specific treatment. Where drugs are available, they are prohibitively expensive, placing immense strain on resources. In the absence of insurance coverage or adequate financial support, this adds to the financial burden of the patients and their families. In such a background, the inclusion of six more rare diseases into various groups of disorders under NPRD is a welcome step. But, that is not sufficient, the ministry should bring more such diseases under NPRD as the drugs for these diseases are prohibitively expensive and beyond the reach of the people of the country.
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