In India, parents of children with rare diseases apply for help online

ILLURU, India – When her baby began to have trouble breathing, Stella Pravin had a terrible feeling that something had gone wrong with her 14-month-old daughter, Ellen.

He rushed to a nearby clinic barefoot, but doctors there said the baby needed to see a specialist right now. Without an ambulance, he jumped on the back of a motorcycle and rode 35 miles to a children’s hospital in another town, where Ellen was in intensive care for 12 days.

Two weeks later, Mrs. Praveen learned that her daughter, who had never been able to lift or roll her neck, was suffering from spinal muscle atrophy, a rare condition that often became fatal by age 2.

“We haven’t even heard of the disease,” Mrs. Praveen said with tears streaming down her face. “He misdiagnosed many times.”

The elderly family rejoiced for a moment when they learned that a promised gene therapy treatment was available, but were quickly disappointed when they heard it: 2.1 million.

In India, and in many of the world’s poorest countries, recent advances in the pharmaceutical industry for rare diseases are often painfully out of reach, impossible for almost everyone except wealthy families, and not covered by health insurance.

Frustrated – and sometimes inspired by success stories – families are turning to social media for fundraising.

Every morning, Ellen’s father, Raipudi Veteran, sends hundreds of emails to five crowdfunding websites, including ImpactGuru and GoFundMe, urging people to help save money for her daughter’s life.

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

With only four months left before Ellen turns 2, time is running out – and the family is still far from her goal.

Spinal muscle atrophy is an inherited neuromuscular disease that kills more children worldwide than any other genetic disorder. In India, one in 7,744 live births, or about 3,200 Indian babies per year, is prevalent in one study.

The symptoms of all four types of conditions arise at different stages. Babies like Ellen with type 1, the most severe, show symptoms in the first six months of their lives: they have to struggle to move their limbs, swallow, suck and finally breathe. They usually do not live after 2.

Across India, pediatric neurologists say growing awareness among parents about the disease is leading to more patients being identified.

In recent years, India has established a reputation as a low-cost manufacturing hub for multinational pharmaceuticals, and the drugs manufactured here are often significantly cheaper than imported drugs, thanks to official price caps.

But therapies for many rare diseases are still commonly imported, forcing patients and parents to face a grim truth: India’s position as a growing pharmaceutical superpower does them no good.

In 2019, the US Food and Drug Administration has approved gene therapy Zolgenesma, which can alter the underlying genetic cause of spinal muscle atrophy and permanently stop the progression of the disease.

At 2. 2.1 million, the pharmaceutical firm Novartis’ Jolgensma therapy is considered the highest price for one-time treatment.

Another drug called SpinRaja costs $ 750,000 in the first year and $ 375,000 in the following year, and for life.

Both Zolgensma and Spinraza made by Biogen 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 approval.

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

None of these drugs are insured in India, so families face a bad choice: raise money or watch their children go bankrupt.

So far, the Elders have raised only $ 100,000 for Ellen’s treatment, but they are not giving up hope, and their hopes are not entirely unfounded.

Since May 2019, when Zolgensma was launched, parents of at least 10 children have managed to raise $ 2.1 million through crowdfunding.

Last year, Yogesh Gupta started a crowdfunding campaign and emailed someone he knew to help out for Type 1 son Ayanash. Soon a group of 125 friends, colleagues and relatives started sending messages to politicians and social media platforms. Bollywood stars. Inspired by 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 1 2.1 million.

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

Raman Nagumantri has raised 1.6 million to raise his 19-month-old daughter.

“We don’t remember a day when we slept through the night after he was diagnosed with the disease,” said Mr Nagumantri. “But we’re close, and I can do anything to get the funding I need in these four months.”

For almost all children in the world affected by type 1, their best chance of survival may be in the Global Managed Access Program, or GMAP, which provides free Jolgensma to a select number of eligible patients under 2 years of age for gene therapy. Regulators are not approved or covered by insurance.

Representatives from Novartis say more than 250 children from around the world have received free therapy through GMAP.

Novartis declined to share the total number of patients from India, but Dr Ann Matthews, a leading pediatric neurologist with more than 400 spinal atrophy patients, said 40 children had been treated across India last year, mostly through gMAP. Nineteen of his patients have taken Zolgensma in the last 13 months, 16 free and three have paid.

Biogen says 200 patients in India have received free SpinRaja.

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

“When the government intervenes, prices fall automatically,” said Alpana Sharma, co-founder of Cure SMA, a parent-led advocacy group. “It happened in cases of other rare diseases like cancer and hemophilia.”

Parents of children with type 1 have a very short time to recover, and treatment for type 2, which has debilitating effects but is not usually fatal before adulthood, is beyond the reach 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, contracted SMA-type 2 three years ago. In most cases, type 2 symptoms appear within six. And 18 months, and affected children cannot walk.

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

After he did not attend the sympathetic access program, his parents turned to crowdfunding. Applying for a few months through their community church group helped raise $ 57,000. At that rate, it would take years for the Spinner to find a source of income, and in the meantime, Dylan was weakening as his muscles were eroded.

Doctors advised Dylan’s parents to start him on Evrisd. They were able to buy a substantial supply of those drugs by the end of the year. Dylan’s mother believes medication and acute physiotherapy are helping, and she says she has seen a 20 percent improvement in her condition. But she is worried about how long she will be able to rely on the generosity of strangers to keep her son alive.

“People laugh when they hear about the price of drugs,” said Mrs. Borges. “They think I’m going to spend it on a car or a big house.”

Ellen’s parents need more money and less time.

On a recent afternoon, his father was walking along a dirt road on a nearby highway, where he rode in the town of Vijayawada. A few hours later, he arrived at the big house of a businessman-philanthropist who he hoped could help.

But it wasn’t happening.

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

Mr. Praveen looked out of the window at the merchant’s spacious lawn and vowed not to give up.

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

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