Rare diseases are not so rare – why India needs better public health policies


With more than 70 million people in India suffering from rare disorders, it’s imperative to create awareness and ensure that patients get the right diagnosis and treatment.

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Health is one of the essential aspects that enables people to live with dignity; this is the fundamental principle on which the issue of right to health is based. If we consider the international definition, right to health is the right for all people to have equal opportunities for access to quality healthcare.

As I understand from this, one of the primary aspects of this definition includes assuring non-discriminatory treatment to all, regardless of the disease condition. Taking this as the premise, it would be worthwhile to focus on the subject of rare diseases, which have been off the radar of all stake holders, including policy makers, pharmaceutical companies, and researchers, for too long now.

Rare diseases are usually defined as disorders that occur rarely and do not affect a large number of people. However, when we look at estimates, there are around 350 million patients worldwide suffering from rare diseases, and the majority of them are children. In India alone, over 70 million people suffer from such disorders. These numbers clearly indicate that even though these diseases are rare, the patients suffering from them are not. Thus it becomes imperative to recognise rare diseases as a public health issue and put them on the national health agenda.

To understand why rare diseases should be treated as a public health priority, it is vital to understand the challenges related to these disorders. Firstly, rare diseases are severe and chronic, and are often life-threatening. They are disabling wherein the quality of life of a patient is compromised dramatically and they are unable to do even simple daily tasks. Furthermore, a majority of common symptoms can be the underlying causes of certain rare conditions, which might lead to a delay in diagnosis.

Compounding the problem is the fact that there are some rare diseases like Gaucher, MPS, Pompe, Duchenne Muscular Dystrophy, Spinal Muscular Atrophy etc., for which treatment is available but is unaffordable due to exorbitant costs. In many cases, the treatment has been seen to drastically improve the quality of life of a patient. The high cost of treatment, thus, increases inequality with respect to access to treatment for rare disease patients.

In terms of treatment options available, there has been limited research in the field of rare disease drug development because they are not a public health priority. Moreover, due to lack of awareness and knowledge about rare diseases - even among healthcare professionals - there is a lack of proper referral of patients to qualified doctors. There is also a debate wherein some argue that the diagnosis of rare diseases loses relevance when treatment is unavailable. These are some of the few challenges which make it extremely difficult for patients of rare diseases to have access to treatment. This is why it becomes indispensable to give rare diseases precedence in the public health domain.

Fortunately, over the past few years, rare diseases have started getting some attention. This has been primarily attributed to the relentless work of patient organisations and the healthcare fraternity. They have highlighted the plight of the patients and showcased the urgency of providing timely treatment. Until recently, policy makers and public health authorities had no or minimum awareness about these conditions. However, today, we can see a shift in public opinion, which has resulted in the execution of certain noteworthy actions.

A case in point is the National Policy for Treatment of Rare Diseases, which has been finalised by the Ministry of Health & Family Welfare (MoH&FW). This has allocated a Rs 100 crore corpus for these conditions. The task at hand now is to implement it in the most efficacious way and on an immediate basis so that patients do not lose any time in getting the right diagnosis and treatment.

Although the actual carrying out of all recommendations will take some time, a few urgent measures need to be taken to ensure treatment for diagnosed patients. Moreover, to have an overall impact, the states (as per recommendation of the national policy) must also recognise rare diseases as a health priority and come up with their individual state rare disease policies. It is worthwhile to note that none of the existing state health policies cover rare diseases.

Having a comprehensive national approach for rare diseases can certainly help us arrive at sustainable solutions. With the national policy in place, we are surely moving towards the right direction.

However, this is not going to be enough as still there are a lot of gaps which need to be narrowed. For this, the coverage provided by the public health care system needs to be increased adequately. In addition, in order to develop robust infrastructure for diagnosis and treatment, strong support from public health authorities would be helpful. They should also take initiatives to provide on-the-job training and educating healthcare workers, specifically in Tier II and III cities regarding rare diseases and their diagnosis, thereby creating conducive environments for patients in remote localities. The states should also look at using modern technology to reach the masses.

In a nutshell, developing an evidence-based long-term plan of action will help in overcoming the existing inequalities and achieve equality of health status. I would like to emphasise that a rare disease not only affects a patient but the whole family, and makes them mentally, physiologically, and economically vulnerable. Given the progress that has been made, the time is now right for policymakers and public health experts to realise that rare diseases are a critical health issue for 70 million people in the country.

(Disclaimer: The views and opinions expressed in this article are those of the author and do not necessarily reflect the views of YourStory.)