In India, parents of children with rare disease seek help online

ELURU, India — When her baby started having trouble breathing, Stella Praveen had a terrible feeling that something was terribly wrong with her 14-month-old daughter, Ellen.

She ran barefoot to a nearby clinic, but doctors said the child needed to see a specialist immediately. Without an ambulance, she jumped on the back of a motorbike and rode 35 miles to a children’s hospital in another city, where Ellen remained in intensive care for 12 days.

Two weeks later, Ms Praveen learned that her daughter, who had never been able to raise her neck or turn around, suffered from spinal muscular atrophy, a rare and often fatal condition when she was 2 years old.

“We hadn’t even heard of this disease,” Ms Praveen said as tears streamed down her face. “She was misdiagnosed on several occasions.”

The Praveen family were momentarily comforted when they learned that a promising gene therapy treatment was available, but were quickly discouraged when they heard the cost: $2.1 million.

In India, and in many of the world’s poorest countries, the latest advances in the pharmaceutical industry for rare diseases are often woefully out of reach, unaffordable for almost all but the wealthiest families, and not covered by health care. ‘Health Insurance.

In desperation – and encouraged by occasional success – families are taking to social media to raise funds.

Every morning, Ellen’s father, Rayapudi Praveen, sends hundreds of emails to five crowdfunding sites like ImpactGuru and GoFundMe, asking people to contribute money to save his daughter’s life.

“Dear Sir, my daughter Ellen is in pain,” begins each email. “Can you help us?”

With just four months to go until Ellen turns 2, time is running out – and the family is still a long way from their goal.

Spinal muscular atrophy is an inherited neuromuscular disease that kills more infants worldwide than any other genetic disease. In India, a study estimated its prevalence at one in 7,744 live births, or about 3,200 Indian babies each year.

Symptoms of the four types of the disease appear at different stages. Infants like Ellen with type 1, the most severe, show symptoms during the first six months of life: they have trouble moving their limbs, swallowing, suckling and possibly breathing. They usually do not live beyond 2 years.

Across India, pediatric neurologists have said, increased parental awareness of the disease is leading to more patients being identified.

In recent years, India has earned a reputation as a low-cost manufacturing hub for multinational pharmaceutical companies, and drugs made here are often significantly cheaper than imported ones, thanks in part to government price caps.

But therapies for many rare diseases are still largely imported, forcing patients and parents to face an agonizing truth: India’s status as a rising pharmaceutical superpower is not helping them.

In 2019, the United States Food and Drug Administration approved the Zolgensma gene therapy, which alters the underlying genetic cause of spinal muscular atrophy and can permanently halt disease progression.

At $2.1 million, pharmaceutical company Novartis’ Zolgensma therapy is said to be the highest price ever for a single treatment.

Spinraza, another drug, costs $750,000 the first year and $375,000 per year thereafter, and must be taken for life.

Neither Zolgensma nor Spinraza, made by Biogen, are made in India or approved for use here, so parents import them with the help of their doctors, a process that involves special government approvals.

The only drug approved for the condition in India is Evrysdi, manufactured by Roche. It’s the cheapest of the three treatments, but still costs between $53,000 and $80,000 a year, and it’s a discounted price for India, negotiated with Roche by the government.

None of these drugs are covered by insurance in India, so families are faced with a heartbreaking choice: collect the necessary money or watch their children wither away.

So far, the Praveens have raised just over $100,000 for Ellen’s treatment, but they aren’t losing hope, and their optimism isn’t entirely unfounded.

Since May 2019, when Zolgensma was introduced, parents of at least 10 children have successfully raised $2.1 million through crowdfunding.

Yogesh Gupta launched a crowdfunding campaign last year and emailed everyone he knew asking for help for his son, Ayaansh, who has type 1. Soon, a team of 125 friends, colleagues and relatives started messaging politicians and Bollywood stars on social media platforms. Moved by the plight of the child, officials and celebrities not only donated money themselves, but also helped spread the word.

After three and a half months, Mr. Gupta said he had raised $2.1 million.

“There is a lot of improvement,” Mr. Gupta said of his son after receiving the Zolgensma treatment. “He can lift his legs slightly and the neck control is much better.”

Raman Nagumantri is more than halfway there, having raised $1.6 million for his 19-month-old daughter, Khyati.

“We can’t remember a day when we slept through the night since she was diagnosed,” Mr Nagumantri said. “But we are close, and I can do anything, anything, to get the funds needed in these four months.”

For nearly all of the world’s children with type 1, their best chance of survival may lie with the Global Managed Access Program, or gMAP, which provides Zolgensma free of charge to a select number of eligible patients under age 2 in countries where the gene therapy has not received regulatory approval or is not covered by insurance.

Novartis representatives said more than 250 children around the world received the therapy for free through gMAP.

Novartis declined to share the total number of Indian patients, but Dr Ann Mathew, a leading pediatric neurologist who has more than 400 patients with spinal muscular atrophy, said 40 children had received the treatment during the past year across India, the majority via gMAP. . Nineteen of his patients have taken Zolgensma in the past 13 months, 16 free and three paid.

Biogen said 200 patients in India received Spinraza for free.

Patient advocacy groups are pushing for the government to step in to negotiate better prices with pharmaceutical companies.

“When the government intervenes, prices automatically go down,” said Alpana Sharma, co-founder of Cure SMA, a parent-led advocacy group. “That’s what happened with cancer and other rare diseases like haemophilia.”

While parents of children with type 1 face an extremely short period of time to recover, treatments for type 2, which has debilitating effects but is usually not fatal until adulthood, are also far beyond the means of most caregivers.

In the coastal state of Goa, Ruby Borges and her husband, Benedict Borges, were devastated when their 5-year-old son, Dylan, was diagnosed three years ago with SMA-Type 2. In most cases, the Type 2 symptoms occur between six and 18 months, and children with them cannot walk.

At the time of Dylan’s diagnosis, Spinraza was the only treatment available.

After he didn’t participate in the humanitarian access program, his parents turned to crowdfunding. Months of appeals through faith groups in their community raised $57,000. At this rate, it would take years to find the money to pay Spinraza, and in the meantime, Dylan is weakening as his muscles atrophy.

Doctors advised Dylan’s parents to put him on Evrysdi. They managed to buy enough of this drug to last until the end of the year. Dylan’s mum thinks the drugs and intense physiotherapy are helping, and she said she’s seen a 20 per cent improvement in his condition. But she worries about how long she can continue to rely on the generosity of strangers to keep her son alive.

“People laugh when they hear the price of the drug,” Ms Borges said. “They’re wondering if I’m going to spend it on a car or a big house.”

Ellen’s parents need even more money and have even less time.

One recent afternoon, his father took a dirt road to a nearby highway, where he hitchhiked to the town of Vijayawada. A few hours later, he arrived at the big house of a businessman-philanthropist whom he hoped he could help.

But it was not to be.

“Accept your fate and move on,” the businessman told him.

Mr Praveen looked through a window onto the businessman’s sprawling lawn and vowed not to give up.

“I will fight until my last breath,” he said.

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