A rare disease and a family’s story

In India where basic healthcare is still not accessible, some citizens are calling attention to disorders with low prevalence. Prasanna Shirol shares what this journey looks like. His daughter was India’s first Pompe patient.

Everybody was shocked when I turned up to give opening remarks at a drug development conference in Bengaluru last November. No one was expecting me. It had only been two weeks since I lost Nidhi, my 24-year-old daughter, my only child. She had been battling a rare disease and had spent the last six years in a semi-comatose state at home.

With Nidhi’s passing, some people thought I would stop the advocacy work for rare disease patients in India which I plunged into 17 years ago. Nidhi was India’s first Pompe patient. It causes progressive weakness in the heart and skeletal muscles.

Yes, there’s a vacuum in my life and my wife Sharada’s. For 24 years, our conversations began and ended with Nidhi — Did she blink? Has her weight gone up? Is her ventilator working? But we are not grief-stricken. We did everything in our capacity to give her a good life. We have no regrets. We now want to take forward the cause that Nidhi opened our eyes to.

There is a dire need. In a country where basic healthcare is still not accessible to many, we are in the minority — 95% of rare diseases have no treatment. The cost of what is available can pinch even the well-off. Since these diseases affect fewer people, sometimes 1 in a population of 2 lakh, pharma companies have little commercial incentive for R&D.

I am the cofounder and executive director of Organization of Rare Diseases India (ORDI). It is an umbrella organisation for patient support and advocacy groups. The story of how I got here, leaving behind a thriving career in business development,
started a year after our marriage. 

Hospital runs

Nidhi was born in 1999 in Hubballi. On the ninth day, we noticed that the shape of her feet looked odd. Then came indigestion and bouts of pneumonia. Something’s wrong with the mother’s milk, our families complained. ‘Massage her well’ came the suggestion. Nidhi could have a glycogen storage disease (GSD), a neurologist in Nimhans, Bengaluru, suspected. Nidhi might be bedridden, she warned. Pinning our hopes on big city hospitals, we moved to Bengaluru. Nidhi was five. She could walk to school but could not run or jump. 

Two years went by but doctors could not accurately diagnose Nidhi’s condition. A junior paediatrician suggested I meet a ‘good but moody’ doctor in Davanagere. I immediately sought a transfer to Davanagere. I showed up at his clinic after my first day at work. He refused to meet me. I returned every evening and sat until 10 pm for a week like that. On the eighth day, he called me in. In his defence, he said genetic cases involve a lot of money and families don’t follow up, so he didn’t want
to waste his time on our case!

His team sent Nidhi’s blood sample to Sir Ganga Ram Hospital in Delhi, to the department headed by the ‘father of genetics in India’, Dr I C Verma. After consulting 40 hospitals across three states over seven years, we had an answer. Nidhi had Pompe, a GSD Type 2 disease. Such patients struggle with breathing, eating and gaining weight. Some can die before their second birthday if not treated.

Around the same time, my wife became pregnant. Our second baby also had Pompe, a prenatal screening flagged. We terminated the pregnancy.

Costly affair

Rare diseases affect children disproportionately. Early diagnosis is key in preventing irreversible damage. We got to the diagnosis a bit late but to our luck, the US had just approved Pompe’s first treatment. The catch? It would cost us Rs 45 lakh a year and more as Nidhi’s weight increased. Insurance in India does not cover rare diseases unlike in the US, Japan and some European countries. 

To our luck again, Sharada’s friend in the US knew about the International Pompe Association, a patient support group based in The Netherlands. She wrote them an email on our behalf. They connected me to Priya Kishnani who had led the research and clinical trial for the Pompe drug. She referred our case to the drug manufacturer and they put Nidhi on their charitable access programme. They were to send the drug — for enzyme replacement therapy (ERT) — over for free, a first in India. Now Nidhi had to visit the hospital every 15 days for ERT.

She continued her schooling, using a wheelchair loaded with a portable ventilator and UPS, and with Sharada in tow. She was improving. She scored 95% in Class 12.

Expenses on a rare disease journey are incremental and we were paying for sudden hospitalisations, upgrading the ICU setup at home, and buying bigger wheelchairs. I have spent upwards of Rs 4 crore, and borrowed as much from family and friends, telling them upfront I may never be able to repay them. A friend transferred Rs 10,000 every month for a year. One of Sharada’s friends in the US saved up every month and sent us a lump sum once a year until Nidhi’s passing. She also mobilised tens of lakhs by way of donations from Kannada Sanghas abroad. On two occasions, I received Rs 2 lakh from a stranger. A builder waived Rs 15 lakh I owed him as part of a flat I had purchased from him. Doctors gave a 50 per cent discount on treatments and even donated money.

I asked shamelessly. I urge parents in my situation not to hesitate to seek help. The most testing time was when my telecom distribution business shut down the day Nidhi’s spinal surgery was announced. I had a week to pay Rs 25 lakh to vendors and arrange Rs 15 lakh for the surgery. That night, I wrote a plea to 10 friends to donate. By 4 pm the next day, I had Rs 12 lakh in my account. I sold my plot in Hubballi to pay the rest.

I don’t see such swift donations on online crowdfunding today. Has the trust eroded? Advocacy organisations like ours are struggling to raise funds.

While the free drug was a godsend, deep down, I was worried. What if they stopped the free drug? Will I be able to afford it? What about patients from poorer and uneducated families?

I moved from a full-time job. I started a business so I could be around for Nidhi more and do advocacy work.

Strength in numbers

In 2009, I started the Pompe Foundation in Bengaluru (now defunct), where we now live. A year later, seven parents and I founded the Lysosomal Storage Disorders Support Society in Delhi. Parents like me, who were doing advocacy in silos, started discovering each other through doctors, media and conferences. Then came the thought of a pan-India group cutting across 7,000+ rare diseases. I started ORDI in Bengaluru with six allies.

Different parents are leading different campaigns and that helps the larger cause. Ravdeep Singh Anand has founded a research lab in Bengaluru to find affordable treatment for Duchenne Muscular Dystrophy (DMD) patients like his son.

Vikas and Poonam Bhatia from Jaipur are campaigning for policy for newborn screening and early treatment. They had lost three children to IEM (inborn errors of metabolism). 

Pic 2 Prasanna Shirol visits patients at the rare disease free treatment ward at Indira Gandhi Institute of Child Health, Bengaluru

Pooja Joshi Bhadrige from Mumbai runs a foundation for children with Angelman Syndrome like her son and their caregivers. Fellow Mumbaikar Ganesh Pawar is rallying for medical insurance coverage. He is a parent of an epidermolysis bullosa patient. 

Remember Mohammed Ahmed? The seven-year-old son of a rickshaw puller who moved the Delhi High Court for Gaucher treatment. He had lost four siblings to the condition. With a strongly worded message, ‘Because someone is poor, the state cannot allow him to die’, the court directed AIIMS Delhi to provide free treatment. It set the tone for a national policy, which was our unanimous demand. Interestingly, Karnataka passed a state policy for free treatment of rare diseases in 2015, before the Centre did. 

ORDI helped the state government set up India’s first rare disease ward in Bengaluru. Over 200 patients are getting treatment here.

I guess our efforts are paying off. Patients have gone on to complete schooling, pursue MBBS, and become scientists and software engineers on wheelchairs. A Bengaluru couple has adopted a boy with Treacher Collins Syndrome, which causes facial deformities. A Pompe patient has delivered a healthy baby.

Home truths

Although heartening, these stories are too few. Most parents tire out quickly. It is understandable. Some patients need weekly injections, some need to eat starch every four hours. Can a single parent making Rs 10,000 a month afford an ambulance to take his child to a city for treatment regularly?

Recently, a mother wanted to abandon her infant at a hospital. Some time ago, a man warned me to stop calling his wife, who had secretly approached me for their baby’s treatment. Husbands walk out on their wives and vice-versa to remarry. Couples leave children with their old parents. Forget this child and plan another, some
elders say. I don’t judge them but I share success stories to instil hope.

Lalith Kumar Seetharaman was a heartbroken father when I met him. Doctors hadn’t been able to diagnose what was wrong with his children, born two years apart. I begged him to let me intervene once. It was mucopolysaccharidosis, we found out. While he has lost one of his sons, he has joined ORDI as director. A couple in IT is raising funds for rare disease patients since we found them a Gaucher specialist for their son.

Our journey was rooted in acceptance. Sharada and I told ourselves and Nidhi that our lives are different. We need to be brave and look for the silver lining. In 2007, my wife and I rushed out of our home to see fireworks on New Year’s Eve leaving behind a weak Nidhi on the bed. When we returned, she asked us when she could go out. The next day, I bought a bigger car to load her wheelchair, ventilator, suction machine and UPS. From that day on, we hopped to malls, temples and hotels like ‘3 idiots’. People found us strange but we couldn’t care less.

We would go on a family date following Nidhi’s hospital visit every fortnight. The anticipation of pizza and burgers reduced her fear of injections. So much so that she started joking about it, saying “Papa, today, they found my vein in just four pricks”.

Some days were crushing and I would cry in the shower and Sharada in the kitchen. When Nidhi’s classmates from high school did not turn up for her birthday, she cried. I felt the children were afraid of the machines she was strapped to.

When I was once abroad, Sharada called up to say there was no power supply in our area for 12 hours and it would take 12 hours to be restored. The UPS was dying and the ventilator could switch off anytime. We rushed a friend’s friend to help Sharada charge the ventilator using the car battery.

Life was looking up for Nidhi in college in 2017. She was pursuing BCom. Her friends would sneak her out for pani puris. She wanted to travel 8 km from Malleswaram to Brigade Road in Bengaluru in her motorised wheelchair! She enjoyed painting and nail art. She dressed up in lehenga-choli for ‘Ethnic Day’ in college. The mood was upbeat. Perhaps she lost track of time. Her ventilator ran out of battery. She suffered a cardiac arrest. Her oxygen level crashed.
She fell into a coma.

Change so far

Seventeen years since Nidhi’s diagnosis, we have a National Policy for Rare Diseases. The manufacturing of 13 indigenous drugs has been approved. Drug import is duty-free. The Indian Council of Medical Research has started a patient registry. Centres of Excellence have been identified in 11 states. There are clinics for individual disorders. A company may soon provide free therapy for a kidney disorder. Government committees seek opinions from parents like me. There was a time when clerks in government offices would mock me as ‘That ventilator case’. The ball is rolling.

Still, every day, parents call up ORDI, asking ‘How can I procure this drug from the US?’, ‘How does one enrol for a clinical trial in the UK?’, ‘Who will look after our child when we die?’, ‘We are planning a second child. Is it safe?’ and ‘How do I arrange Rs 30 lakh?’. These include daily wage workers, techies and even bureaucrats. How can I stop on this journey?

Expert speaks

Dr Meenakshi Bhat is associate director, Centre for Human Genetics, Bengaluru. She is chairperson, Centre of Excellence for Rare Disorders, Karnataka.

* Rare disease affects fewer than 2 lakh persons in the US and 1 in 2,000 persons in Europe. India hasn’t arrived at a definition yet.

* There are 6,000-8,000 rare disorders worldwide. About 80% are genetic. Half of them affect children. Around a third of untreated children do not survive beyond
infancy. Of the 350 million patients globally, 1/5th are in India.

* Diagnosis is possible during early pregnancy. Around 5% of rare diseases have a definite but long-term treatment — costs go from a few lakhs to several crores.
Supportive therapy can prolong life in absence of treatment. 

* Parental advocacy groups like Unique, and International Gaucher Alliance have helped in raising awareness and shaping policies globally. India’s National Policy for
Rare Diseases 2021 came through partly because of parents.

* India’s policy provides up to Rs 50 lakh for treatment of every eligible patient. But we lack a national programme for screening of newborns for treatable disorders.
We have fewer than 250 trained clinical geneticists for the job

ORDI helpline - 88925 55000 (10 am to 6 pm)

(As told to Barkha Kumari)

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