The last day of February is celebrated as ‘Rare Disease Day’ the world over to focus attention on rare diseases and highlight it as a public health emergency—but what are rare diseases? Though some countries have their own definitions of what makes a disease ‘rare,’ according to the World Health Organization (WHO), a rare disease is a medical condition with a specific pattern of clinical signs, symptoms, and findings that affects fewer than or equal to 1 in 2000 persons living in any WHO-defined region of the world.  

To date over 6000 rare diseases have been identified, and about 30 crore people are afflicted by such diseases. Some are widely recognized by name such as Cystic Fibrosis, while others, such as the cat eye syndrome, are not as well known. Other rare diseases include rare neurological and neuromuscular disorders, metabolic diseases, chromosomal disorders, metabolic diseases, rare diseases that affect the heart, blood, lungs, kidneys, and other body organs and systems. 

However, even as many of these diseases can be life threatening, chronic and draining, it is fraught with challenges owing to its rarity and difficulty in obtaining samples to rigorously study the diseases—difficulty in diagnosing, lack of curative treatment for some, need for lifelong treatment in others, and the high costs of some of the drugs used to treat these diseases, among others. While we lack conclusive data on the burden in India, some estimates show that there are about 7 crore people living with rare diseases in India, making it a matter of grave concern in our country as well.  

Rare diseases: the challenges 

The rare diseases landscape continues to evolve with newer health conditions being identified and reported in medical literature. With the exception of a few diseases that have witnessed significant progress, such as Cystic Fibrosis, the field is still nascent.  

For a long-time physicians, researchers and policy makers were not aware of rare diseases and until a couple of years ago, there was no real research or public health policy concerning issues pertaining to the field. 

This lack of awareness and research means that rare diseases are notoriously difficult to diagnose, and a definitive diagnosis may take years on end. The lack of adequate screening and diagnostic facilities also contribute to difficulty in early diagnosis.  

According to some reports it takes patients in the U.S. an average of 7.6 years and an average of 5.6 years for patients in the United Kingdom (U.K.) to receive an accurate diagnosis. This could involve as many as eight physicians (four primary care and another four specialists). While patients wait for an accurate diagnosis, they often have to deal with two or three inaccurate ones adding to the patient’s suffering.  

Traditional genetic testing cannot address all rare diseases. Hence, the diagnosis can be time consuming as it often requires next-generation sequencing based tests, or chromosomal microarray. The interpretation of the results of these tests is also a challenge. And most importantly, since 80% of rare diseases are the manifestation of faulty genes, previous technological limitations have hindered researchers’ understanding of genetic factors underlying the rare diseases. 

Challenges do not end with a diagnosis; availability and accessibility to medicines is also a significant challenge. Less than 5% of the known rare diseases have an available treatment. And even when there is treatment available, the cost of some of these drugs can be prohibitively high.  

In the U.S. development of drugs for are diseases is encouraged through the Orphan Drugs Act, which incentivises the drug manufacturing industry by way of tax incentives, market exclusivity among others. However, critics have raised concerns pertaining to drug manufacturers gaming the system to maximize monetary gains. In the European continent, the European joint programme on rare Disease mostly focuses on research. In Singapore, a fund—Rare Disease Fund—has been created to fund five medicines to treat three rare conditions. In Malaysia and Australia subsidised access for eligible patients for expensive and lifesaving drugs. 

In India, in the latest budget, the government had exempted multiple drugs from customs duty, including some that are prescribed for rare diseases. However, there are challenges that still persist 

The Indian Landscape on Rare Diseases 

In 2021, the Ministry of Health and family Welfare launched the National Policy for rare Diseases (NPRD) in March, 2021. Currently, a total of 63 diseases are included in the list of rare diseases on recommendations of a committee on rare diseases called the Central Technical Committee for rare Diseases (CTCRD).  

According to this 2021 policy document, data on the number of individuals that suffer from rare diseases is lacking in India. However, estimates by the Foundation for Research on Rare Diseases and Disorders, based on Census data, show that there are over 7 crore people living with rare diseases and disorders in India, with over a crore of these people coming from Uttar Pradesh. 

In India, the commonly reported rare diseases include immunodeficiency disorders which refers to a compromised immune response, and lysosomal storage disorders which are metabolic conditions that causes build-up of toxic substances in one’s body cells and potentially damage other cells and organs. Certain forms of Muscular Dystrophies, such as Duchenne Muscular Dystrophy, and spinal muscular atrophy (SMA)—both are types of progressive muscle weaknesses—are also classified as rare diseases. 

The government’s policy categorises rare diseases into three groups— those that have a one-time curative treatment, those that require lifelong/ long term treatment, but the cost of treatment is relatively low, and those that require very expensive long-term treatment. 

These costs are an added burden on patients. To help ease the burden, monetary assistance of up to INR 50 lakh per patient is provided at the 12 notified centres of excellence (CoE) for rare diseases. However, since the launch of the policy, only a total of one thousand one hundred and eighteen (1118) patients of rare diseases have availed benefits under the scheme. 

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