Prasanna Shirol co-founded ORDI (Organization for Rare Diseases in India), a national umbrella organization representing the collective voice of all patients with rare diseases in India. Its vision is to make rare diseases as easily diagnosed and treated as common diseases like Diabetes, Hypertension, TB, etc.
A rare disease is often a debilitating lifelong disease of low prevalence that affects a small number of people. 80 per cent of the rare diseases are genetic and affect children. Prasanna’s daughter, Nidhi, suffers from Pompe, a genetic disease so rare that it is estimated to affect only 6,000 to 8,000 people in the world, of which over 25 cases have been identified in India so far.
Prasanna says, “With Nidhi, rather early on we noticed that she could not do some things that other normal children her age were doing. She never managed to crawl and even to sit up would be a difficult task for her. Small things that one expects from children of her age were huge tasks for her.” The family did hundreds of tests across 35-40 hospitals across Indian in the next 7 years but nothing conclusive came out of it. The seven years spent in trying to diagnose the problem, according to Prasanna, was precious time lost. After years of ups and downs, Nidhi was finally diagnosed with Pompe, a rare disease. Shirol, who was the AVP at Sony, but trials and struggles to save his daughter made him quit his job to spend all his time and energy on getting the right treatment for Nidhi. Prasanna has moved heaven and earth to get his daughter better. While the treatment itself is very expensive, even the care that a patient needs is physically and emotionally draining for the caregivers, notes Prasanna.
“The amount of time and money that Nidhi’s treatment cost got me thinking about those in similar situations but unable to afford the high costs,” he says. He emphasises on the importance of early diagnosis so that the child can be treated from as early on as possible. “Despite being educated and having access to medical facilities, it took my wife and me so long to get the right diagnosis and the subsequent treatment, and that is when I started thinking of what the long-term solution to this would be,” he says.
Prasanna wanted to bring together families going through similar problems and help them by providing the right guidance. Recognising the need for an umbrella organisation in India to address rare diseases, he started ORDI, the Organisation of Rare Diseases India in 2014. "We have also set up a 24x7 helpline and have set up care coordination centres, where diseases are identified and treated. We wish to support rehab and end-of-life care. Some of this has been initiated."
His personal journey has made him aware of the hardships of other families. Shirol says in the last 10 years he has known of at least a few thousand patients who have died. "It's a part of my life," he shrugs.. Nidhi has been in a state of semi-coma for the last 2 years, but Shirol has continued his work to help other rare disease patients with even more motivation.
ORDI needs funds to provide proper diagnosis to thousands of patients who are yet to be diagnosed. The families cannot afford the costs of the innumerable tests required to arrive at the correct diagnosis. Without the correct diagnosis, the proper treatment of the child cannot be undertaken. Most of the rare diseases do not have a permanent cure. So after a proper diagnosis, the patients need supportive care and treatment to lead a better life. 80% of the rare diseases are neurological in a nature. Some patients require ventilators, wheelchairs, physiotherapy and drugs to stop further deterioration of their bodies.
In the last 5 years, ORDI has done correct diagnosis for almost 1000 rare disease patients. For many of them, they have provided required treatment through co-ordination with the government, by filing PILs in court and other forms. Hundreds of patients are provided with supportive care at different Rare Disease Coordination Centres at government hospital through ORDI. Such intervention by ORDI has helped in transforming the lives of many rare disease patients and provided the much need help for the struggling families.
Your support will ensure that Prasanna and his team at ORDI can continue to provide care and save lives of hundreds of rare disease patients.