“You often hear of parents building their savings so their children can lead more comfortable lives in the long run. But, I didn’t have the long run to think about. I just had the present,” Prasanna Shirol takes me back to the day his daughter, Nidhi, made headlines, becoming India’s first reported Pompe patient.
The rare genetic disorder causes glycogen accumulation in the muscles, not sparing the vital organs either. With a prevalence of 1 in 40,000 to 1 in 3,00,000, Pompe pronounces its victims with a life sentence of two years, something Nidhi managed to outdo by 22 years. India had never diagnosed a Pompe patient before Nidhi; the fact that genetic testing was still in its infancy compounded the delay in diagnosis.
The first seven years of Nidhi’s life were a blur. Prasanna and his wife, Sharada, have only memories of hospital doors and batteries of tests from that period. “Right from when Nidhi was four months old, we started observing that she had problems with digestion. She suffered from frequent pneumonia. Even after one and a half years, she could not get up on her own. She had flat feet.” Prasanna says that as time progressed, the symptoms worsened.
Forty hospitals later, they had a diagnosis.
But, there is a silver lining, Prasanna, who is primed to look for one in every situation, shares. Following the diagnosis, the Netherlands’ International Pompe Association agreed to sponsor Nidhi’s treatment through their international charitable access programme. Though relieved, the ‘dad’ in Prasanna couldn’t help but wonder about the fate of families who weren’t as lucky.
Rare disease drugs (also called ‘orphan drugs’ due to their unprofitability for pharma companies to produce) cost crores. The disparity in access to medical treatment compelled Prasanna to start the Organization for Rare Diseases India (ORDI) in 2014, a platform for advocacy. “No one should have to face the uncertainty that we faced,” he says.
I think it is commendable that Nidhi’s passing hasn’t dimmed Prasanna’s mission and vision in the slightest. In a world where everyone is for themselves, we have stumbled upon a paradox. He explains, “If I had started this journey with the goal of ensuring my daughter received funding for her treatment, it probably would have ceased. But I started it to help other children with rare diseases and worried parents with no one to turn to for the answers.”
Creating and continuing hope: The Organization for Rare Diseases India
Considering the nature of Prasanna’s schedule, I’m lucky to secure an interview with him. His time is a juggle between the operations of ORDI and taking India’s rare disease advocacy to a global stage.
Last year saw Prasanna attend an APARDO (Asia Pacific Alliance of Rare Disease Organisations) meeting in Manila, Philippines, where he discussed the latest developments of rare diseases in India; meet with Dr Jan Klat of Merck Healthcare to discuss potential clinical trials that Indian patients could be a part of; and represent India at COLLABORATE Initiative at Prague, Czech Republic — the first-of-its-kind ‘multistakeholder initiative’ to identify the challenges faced by people with adult-onset rare diseases and possible opportunities for change.
But gratitude for this schedule lights up his face as he tells me about it. A decade ago, his life was very different. Prasanna had quit his job to start ORDI, he was spending a lakh and a half every month to finance his daughter’s treatment, and he was very close to losing hope. “I have no idea how I managed to run my home for those 12 years,” he recalls. But the kindness of the world kept him going, and today, through ORDI, he is attempting to be that beacon of hope for a parent who needs it.
While some clinch the argument that there isn’t a cure for rare diseases, Prasanna has a counter-rhetoric: “Give them relief then.” Through their work, ORDI is challenging the notion that the journey with rare diseases is a fight to be won. Instead, they emphasise making the battle less painful. One of their most significant strides has been ensuring access to court-approved medical funds for children with rare diseases.
Recalling the initial resistance he was met with while appealing to different governments for medical funding — “Thousands of children die of diarrhoea and malaria every year. Why should we give you money?” — he underlines the importance of not backing down. His tug-of-war with the bureaucracy lasted for six years from 2011 to 2017, culminating in a sweet victory in 2017 when Rs 100 crore was sanctioned under the National Rare Disease Fund (NRDF).
Through this, every patient with a rare disease (who qualifies based on the assessment criteria) would be entitled to Rs 50 lakh. The money would be directed to ‘centres of excellence’, spread across public hospitals in India, where patients would be able to access wherewithal for treatment.
‘He is like God to me’
Rekha K (30) was featured on a TV show in 2011 where she spoke about her battle with Mucopolysaccharidosis type IV (MPS IV), a rare genetic condition that causes bone growth abnormalities. Prasanna happened to be watching the show that day. When he heard Rekha detail the hassle of accessing the right treatment modality, he reached out to the show, requested to be put in touch with her, and told her about ORDI.
“At the time ORDI was just a small group,” Rekha shares. But, her entry marked the start of a life-long bond with ‘Prasanna uncle’. “He continues to amaze me,” she adds. Rekha isn’t accessing treatment under the NRDF but, a rare disease patient’s needs span beyond just funds, she says. “Whether it’s counselling, medical help or any kind of assistance, Prasanna uncle is always the first one to step in and help me and my brother, who is also battling a rare disease. We owe our current jobs to him as well.”
Rekha shares that she and her brother were keen on securing jobs in the same company but had to decline campus placements as they did not match this preference. Seeing their situation, Prasanna tapped into his network to assist them. “Having two children with rare diseases isn’t easy, and so we wanted to make it easier on our mom. Prasanna uncle helped us,” she says.
While ORDI provides non-medical help in Rekha’s case, beneficiaries of the funds can access the Rare Diseases Care Coordination Centre (RDCCC) at the Indira Gandhi Institute of Child Health in Bengaluru (one of the ‘centres of excellence’ approved by the government). It has been designed to fill the gaps that Prasanna and his wife observed during Nidhi’s treatment sessions. The enzyme-replacement therapy she was prescribed necessitated an infusion of drugs every fortnight, meaning 12 hours of enduring multiple pricks as the nurse attempted to find her vein.
“Motivating a child for never-ending, long, and dreary hospital visits is a task,” Prasanna points out. Having a new nurse perform the testing and therapy each time adds to the ordeal. At the RDCCC, you’ll find that the staff is constant. Every time a child comes for treatment, they have a familiar face to look for. In addition to this, the beautiful child-friendly environment, complete with a comfortable waiting area makes it a pleasant experience for both the parent and child. The centre, which has seen a patient turnout of 275, has become a template for the rest of the country.
While the Bengaluru centre is managed by them, there are ORDI coordinators stationed at the other centres of excellence too, to coordinate with hassled patients and parents and help them navigate the treatment process right from admission to fund access.
Through its role as a single-point destination for multidisciplinary expertise and specialised care for rare diseases in children, ORDI connects patients with rare disease healthcare providers, medical experts, recognised diagnostic centres, genetic counsellors, caregivers, treatment options, national and international clinical trials, and funding options where feasible.
It is attempting to bridge the gap between patients and medical professionals — thereby reducing diagnosis time, improving access to care and treatment and encouraging the enactment of equitable rare disease health policies.
Putting rare disease advocacy on the public health radar
‘Chances are you know someone with a rare disease’ reads the headline of an article in John Hopkins. Statistically, it could be true. With 70 million people in India battling a rare disease of some kind, Prasanna realised the need to double down on policy frameworks. While most of his work, through ORDI, was previously centred on raising awareness of rare diseases to change outdated perceptions, there has been a shift in the goalposts. Now, he wants to make these conversations commonplace in society.
Elaborating on how they did this, he talks about the Racefor7 marathon, wherein people across 20 cities are encouraged to run for the cause of rare diseases. This year, you could be a part of it too. The marathon is set to take place on 23 February at 7 am sharp across these 20 cities.
In addition to this, ORDI has set up the first nationwide rare disease helpline (+91 8892 555 000) to provide information and advice to patients with rare diseases seeking medical or non-medical assistance. The team assists hassled parents not just with ventilator and test support but also emotional assistance, even going on to speak to their employers in some cases to increase their empathy.
In 2018, Prasnna was named Ashoka Fellow and in 2019, he was awarded ‘RARE Champion of Hope’. The award honours and recognises true champions for rare diseases who have made a significant impact in advocacy, industry, and research.
But I can gauge that the real win lies in his phone messages, which he excitedly points to when I ask him what makes his day. “When a parent sends me a picture of their child undergoing therapy at RDCCC and tells me that they are relieved because of me, it makes me happy.” These moments validate the goal he set out with — to ensure that all the ‘Nidhis’ and ‘Prasannas’ of the world do not have to deal with pain.
Register here to participate in this year’s marathon.
Edited by Khushi Arora; All images courtesy Prasanna Shirol
