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Rare disease in India: An interview with Prasanna Shirol

On the heels of the Race for 7 event in Bengaluru, co-founder and director of the Organisation for Rare Diseases India (ORDI), Prasanna Shirol spoke to Health Issues India to offer his insight into the myriad of issues facing those suffering from rare diseases within the country in an exclusive interview.

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Thank you for agreeing to the interview. Firstly, would you like to discuss your position in the Organisation for Rare Diseases India and the work the Organisation does?

Thank you Nick. I am the co-founder and director of the ORDI. ORDI was founded in Feb 2014, set up as a section 25 non-profit company in India as a patient-centered organisation with the mission to improve the health of patients with rare diseases around India through awareness, advocacy, collaborations and information dissemination.

ORDI represents the millions of rare disease men, women and children in India. Through ORDI, we are targeting to make rare diseases a common word; a topic of concern and discussion amongst every citizen of this country. It is only then that we can collectively make a huge difference to the rare disease community with the help of the Government.

Given India’s vast population, the country is home to a significant number of people affected by conditions that fall under the banner of rare disease. Would you say India is uniquely affected by such diseases?

Yes, India is uniquely affected by rare diseases. 

There are many factors, the major one being marriages within close family, its consequences and the lack of medical awareness.

Lack of awareness among the medical fraternity, delayed diagnosis, social stigma, lack of healthcare facilities and community-based practices. Most people in the country still aren’t aware about the importance of prenatal screening or the importance of prompt diagnosis. They get carried away with the stigma and superstitions attached with a rare condition. Given all these challenges, we feel India is uniquely affected by rare diseases

The recent National Policy for Rare Diseases 2020 Bill has been heavily criticised for not including a number of rare diseases, as well as providing financial support that may not entirely cover the costs of treatment for those with rare disease. What are your opinions on the Bill?

I am actually proud of the Government to take the initiative and step forward in compiling a draft of the National Rare Disease Policy 2020 (NPRD).

The draft NPRD 2020 released last week comes up short on many counts. The vision of the document name itself is a concern. Earlier it was NPTRD [National Policy for Treatment of Rare Diseases] and now NPRD (National Policy for Rare Diseases).

While there are already existing definitions for rare disease in India in Orphan Drug Policy and as per the Indian Council of Medical Research (ICMR), this draft fails to define the definition of rare disease and inclusion of rare diseases are kept open ended.

“It’s a complete U-turn.” “There is no financial commitment and there is no seriousness towards rare diseases which we have been asking for.” Earlier, in 2017, the government had spoken of a Rs 100 crore central corpus fund (and similar corpus at the state level with a 60:40 ratio out of the central pool) to treat these diseases but that doesn’t figure anymore and there is no centre and state relationship.

For the third category — diseases requiring prohibitively expensive and lifelong therapy such as Gaucher disease, SMA [spinal muscular atrophy] and Pompe disease, the policy only talks of setting up a digital platform for voluntary individual and corporate donors to contribute to the treatment cost.

“How can a policy talk about crowdfunding? We are already using crowdfunding for our survival.” Some good news is that the policy’s emphasis on other approaches, such as high-risk screening, is a necessary step to tackle these debilitating conditions. On the whole, ‘washing its hands off’.

How would you suggest the Bill be improved?

Very simple. All treatable rare diseases must get treatment, life-long supportive care for non-treatable diseases and encouragement for research and development.

The Government has to reframe the policy by working together with patient support groups and other stakeholders. With this, we can create an inclusive policy that has clarity for patients as to what they are entitled, where they must go for support and what policies are being put in place to encourage domestic research, development and sale of affordable therapies and disease management options. 

This partnership with patient advocacy groups will only ensure that the government is able to put forth law and policy that tangibly protects the rights of persons living with rare diseases in India.

Do you think an increase in awareness for rare diseases could translate to better support from a political standpoint?

Yes, awareness among all stakeholders is key for 360-degree management of rare disease in India, and if you had noticed that is the mission we at ORDI are relentlessly working towards. The Government would only notice rare diseases if it is a national issue. We need the power of community voice to make a difference in the rare disease sector. Our Race for 7 is one of the unique initiatives in the world in this direction. 

The Organisation organises events to promote public awareness such as Race for 7,. Could you explain the aims of Race for 7 and its impact?

We conduct Race for 7 annually in lieu of International Rare Disease Day that occurs on 28th/29th February every year. The aim here is to primarily raise awareness about rare diseases, to empower patients and their families with access to national and international resources.

The impact is the transmission of the contagious energy and enthusiasm that comes with each Race for 7 event. Every year, with this euphoric event, we are able to build trust and knowledge about ORDI amongst the changemakers.  Our supporters give us immense hope and confidence to drive towards our end goal.

What other events does the Organisation arrange to promote public awareness of rare diseases? 

We conduct several programs with the aim to provide CME programmes for the medical fraternity, arranging conferences, patient interaction programmes, and medical camps, to sensitise the general public and presentations in corporate companies. 

While rare diseases cumulatively affect many millions of people, each individual disease affects a relatively small number. How would you suggest research into these conditions could be encouraged given the lack of financial incentive for private research companies? 

As far as India is concerned, with our population, even a small number is huge. Due to the discouragement of the medical fraternity that they are not treatable and no medicine, many such patients are [confined] within their house. For example there were thousands of DMD [Duchenne muscular dystrophy] patients in India but data was not available. Recently due to increased awareness and hope of clinical trials, they are all coming together and we can see the visibility of patients easily in thousands and lakhs across India. In fact three of the groups themselves have started research activity to find a cure. We saw similar activity in SMA as well.

Do you think public support from the government into research could be the best means of promoting research?

There are still thousands of diseases that need research activity and it has to be a hybrid model. Government first creates an environment and infrastructure support like it was done for startups (special incubators, funding, tax relief etc.)

Encouragement to individual and small organisations where we see a lot of potential specially for single gene and for bio similar, as incentive for investment into rare disease research etc.

Do you think schemes such as Ayushman Bharat have been of benefit to those with rare diseases?

Rare disease has different challenges when compared to other diseases. First, it can affect newborn to old age. They are progressive and hence need life-long support. Each patient’s clinical outcomes are different for the same diseases. 

These require various therapies at different stages and medical intervention regularly. This requires caregiver and family support also. All these cannot be addressed by a general healthcare scheme like Ayushman Bharat. 

How would you suggest adjusting such a health insurance scheme to better fit those with rare diseases?

It may be difficult to fit an insurance scheme for rare disease patients in the present scenario. However, the existing scheme should allow other claims during hospitalisation with a special rider or extra money. Currently, they are rejecting claims admitted for pneumonia also because the patient has a genetic condition. 

Thank you for your time, is there anything else you would like to add?

Yes. India needs a long-term, holistic approach towards management, relevant policy and funding. We need to focus on newborn screening to arrest and robust diagnostic support for early diagnostic and management. This will help family for better planning and adjusting to the changes required. To reduce burden on the society and to create better living conditions.    

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