India has over 7 crore patients with a rare disease, 95% of which are incurable. This Rare Disease Day, Prasanna Kumar Shirol, co-founder of Organization of Rare Diseases India, talks about the challenges and the way forward.
Prasanna Shirol: You don’t find too many patients with a rare disease in society. One in 20 Indians suffers from a rare disease. This is why such individuals aren’t studied much. Their diseases are dubbed orphan diseases with a negligible number of scientists, hospitals, and pharmaceutical companies working on their condition.
Eighty percent of rare diseases have a genetic origin. They can affect anyone at any time. However, their prevalence is higher in children, who form about 50 percent of the cases. Thirty percent of these children do not survive beyond the age of five.
Adults are less affected. The recent demise of Dangal actor Suhani Bhatnagar was due to a rare disease called dermatomyositis.
Most rare diseases are chronic. It affects multiple organs, sensory capacities and physical abilities. They are progressive, meaning their initial effects may not be noticeable. This is what makes it difficult to understand and diagnose the condition.
Prasanna Shirol: Worldwide even today the average diagnosis period for a rare disease is seven years. Early diagnosis is very important. In most cases, you cannot undo the damage done to the person.
There are over 7,000 rare diseases, and 95 percent of them do not have a treatment available. Only five percent of the diseases have an FDA (US Food and Drug Administration) approved treatment. These are so costly that even a millionaire would find it difficult to afford them.
The overall cost is also dependent on factors such as the weight of the person’s body. If treatment of a child weighing 10 kg costs Rs 50 lakh, it would be Rs one crore for a child weighing 20 kg. Just imagine the cost of treatment for a person weighing 70 kg.
The average treatment for a rare disease may cost anywhere between Rs 10 lakh to a few crores per patient per year. For instance, one injection for a patient suffering from spinal muscular atrophy (SMA) costs Rs 17 crore.
In addition to this, there are other costs associated with supporting the patient as well. A patient suffering from a rare disease requires constant monitoring, surgeries, other procedures and medical devices.
Prasanna Shirol: My daughter was the first person to be diagnosed with a rare disease called Pompe in 2007. It took seven years and going to over 40 hospitals for the condition to be diagnosed. Pompe is a progressive disease caused due to an enzyme deficiency. The deficiency hardens the muscles and affects the heart and lung function of the patient.
She was on a ventilator for 16 years and went to her school and college with three machines. Getting admission into a school was also extremely difficult. I was fortunate enough to get access to a drug that costs Rs 1.5 crore per year through a US company for free. She performed very well in pre-university college and got admission to a B.Com programme.
When she was in college her ventilator failed once because of its limited battery backup. The reboot took time which resulted in cardiac arrest and hypoxic injury. She was in the semi-coma stage for six years and we lost her last November.
Her diagnostic journey, and my own struggle, raised three questions in my mind. One, for how long will the drug company provide us the medicine for free? Secondly, if they stop, how will I earn Rs 1.5 crore a year? And third, despite my economic privilege and support system, if I am struggling so much, what happens to those who are poor, uneducated, and living in rural areas?
This led me to decide that I should do something not just for my daughter but for society as well. In 2008, no one in India was working in this area.
I realised that every county has an umbrella organisation dedicated to rare diseases. India did not have one. So I joined forces with others to start ORDI in 2013. It was officially registered in 2014.
Prasanna Shirol: One of our key interventions is continuous awareness of the general public and the medical fraternity. We organise a Race For 7 which is a mass awareness programme symbolically representing the 7,000 rare diseases, the seven-year diagnosis period, and 7 crore estimated patients in India. We started with Bengaluru and this year we organised it in 15 cities.
When thousands of people come together, it sends a strong message to policymakers.
Karnataka became the first state to support rare disease-afflicted patients in 2016. Today more than 200 rare disease patients avail treatment in Karnataka.
Based on a court case filed by a rickshaw puller in the Delhi High Court, the central government was directed to come up with a policy. The national policy was put in place in 2007. While the policy itself was good, it was never implemented.
Finally, in 2021, a new policy called the National Policy for Rare Diseases was instituted. It announced a one-time assistance of Rs 50 lakh per patient. While it is sufficient for some conditions, for many it is not.
We also do advocacy of various kinds and assist in clinical trials and research and development.
For several reasons, India is not a destination for clinical trials. For instance, we don’t have patient registries maintained by the government. If I want to develop a drug for a particular rare disease, there is no way to find out the exact number of patients in India.
The only long-term solution is local, cheap drug development. We try to bring all stakeholders – patients, doctors, scientists and funding agencies – for better collaboration and coordination.
For the last 10 years, we have also been running a rare disease helpline. Not just patients, but doctors too reach out to us with queries.
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Lead illustration by H Ko (Shutterstock)
