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

ELURU, India – When her baby started struggling to breathe, Stella Praveen had a terrible feeling that something was seriously wrong with her 14-month-old daughter, Elaine.

I ran barefoot to a nearby clinic, but the doctors there said that the child needed to see a specialist right away. Without an ambulance, I jumped on the back of a motorbike and rode 35 miles to a children’s hospital in another town, where Eileen stayed in intensive care for 12 days.

Two weeks later, Ms Praveen learned that her daughter, who was unable to lift her neck or roll, had spinal muscular atrophy, a rare condition that is often fatal at age two.

We haven’t even heard of this disease,” said Mrs. Praveen as tears rolled down her face. “She was misdiagnosed many times.”

Praveen’s family was momentarily delighted to learn that a promising gene therapy was available, but quickly backed down when they heard the cost: $2.1 million.

In India, and in many of the world’s poorest countries, recent developments in the pharmaceutical industry for rare diseases are often painfully elusive, nearly impossible for all families, except the wealthiest, to afford and not covered by health insurance.

In desperation – and backed by the episodic success story – families are turning to social media to raise money.

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

Each email begins with “Dear sir, my daughter Elaine is suffering.” “Can you help us?”

With only four months left before Ellen turns two, time is running out – and the family is still a long way from its target.

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

Symptoms of all four types of conditions appear at different stages. Infants like Ellen have type 1, which is the most severe, during the first six months of life: they struggle to move their limbs, swallow, suck, and eventually breathe. They usually do not live beyond 2.

Pediatric neurologists across India said that increasing awareness among parents about the disease is leading to more patients being identified.

In recent years, India has gained a reputation as a low-cost manufacturing hub for multinational pharmaceuticals, and medicines made here are often much cheaper than imported ones, thanks in part to government price caps.

But treatments for many rare diseases are still typically imported, forcing patients and parents to confront a painful reality: India’s status as a rising pharmaceutical superpower isn’t helping them.

In 2019, the US Food and Drug Administration approved the Zolgensma gene therapy, which changes the underlying genetic cause of spinal muscular atrophy and may permanently stop the progression of the disease.

At $2.1 million, drug company Novartis’ Zolgensma treatment is believed to be the highest price ever set for a one-time treatment.

Spinraza, another drug, costs $750,000 the first year and $375,000 a year after that, and needs to be taken for life.

Made by Biogen, Zolgensma and Spinraza are not 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 approved drug for this condition in India is Evrysdi, which is manufactured by Roche. It’s the cheapest of the three treatments, but still costs $53,000 to $80,000 a year, a discounted rate for India, which the government has negotiated with Roche.

Insurance does not cover any of these drugs in India, so families are faced with a painful choice: raise the necessary funds or see their children go to waste.

So far, the Bravens family has raised just over $100,000 for Ellen’s treatment, but they haven’t given up hope, and their optimism isn’t entirely unfounded.

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

Last year Yogesh Gupta started a crowdfunding campaign and sent emails to anyone he knew asking for help for his son Ayaansh, who suffers from type 1. Bollywood stars. Because of the child’s plight, officials and celebrities not only donated money themselves but also helped spread the word.

Three and a half months later, Mr. Gupta said he had raised $2.1 million.

“There is a lot of improvement,” Mr. Gupta said of his son after he received the Zolgensma treatment. “He can raise his legs a little bit and control his neck a lot better.”

Raman Nagumantri is more than halfway there, raising $1.6 million for his 19-month-old daughter, Khiati.

“We don’t remember a day we slept through the night since she was diagnosed,” Nagumantri said. “But we’re close, and I can do anything, anything, to get that money that’s needed in these four months.”

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

Representatives from Novartis said that more than 250 children from around the world have received treatment free of charge through the gMAP programme.

Novartis declined to share the total number of patients from India, but Dr Ann Matthew, a leading pediatric neurologist, who has more than 400 spinal muscular atrophy patients, said 40 children were treated in the past year across India, mostly through gMAP . Nineteen of her patients have taken Zolgensma in the past 13 months, 16 of them free and three of them paid.

Biogen said 200 patients in India received Spinraza for free.

Patient advocacy groups are pushing for government intervention to negotiate better prices with drug companies.

“When the government steps in, 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 hemophilia.”

While parents of children with type 1 face an alarmingly short period of time to treatment, type 2 treatments, which have debilitating but not usually fatal effects before puberty, are also beyond most caregivers’ capabilities.

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 type 2 SMA. In most cases, type 2 symptoms are between six years old. and 18 months, and babies with it can’t walk.

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

After he did not get into the Compassionate Access Program, his parents turned to crowdfunding. Months of appeals conducted through church groups in their community helped raise $57,000. At this rate, it could take years to get the money to pay for Spinraza, and in the meantime, Dylan was getting weaker as his muscles atrophied.

Doctors advised Dylan’s parents to start his treatment on Eversde. They managed to buy a sufficient amount of this drug until the end of the year. Dylan’s mother feels medication and intense physical therapy are helping, and said she has seen a 20 percent 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,” said Ms. Borges. “They wonder if I’m going to spend it on a car or a big house.”

Eileen’s parents need more money and have less time.

One afternoon, her father walked down a dirt road towards a nearby highway, taking his way to Vijayawada City. Hours later, he arrived at the large home of a businessman and philanthropist who had hoped to help him.

But it was not to be.

The businessman said to him: “Accept your fate and move on.”

Mr. Praveen looked out a window at the businessman’s sprawling garden and vowed not to give up.

“I will fight to her last breath,” he said.

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