The drug, Zolgensma, can only be administered to children below the age of two to arrest the progression of type 2 Spinal Muscular Atrophy (SMA).

Diya NandagopalDiya Nandagopal
news Pharma Monday, December 20, 2021 - 17:33

For weeks, Bhavana and Nandagopal had been exploring every avenue possible, including crowdfunding, after their daughter, 11-month-old Diya, was diagnosed with a genetic disease – type 2 Spinal Muscular Atrophy (SMA). On November 18, they received an unexpected call that informed the Bengaluru-based couple that Diya had won the Novartis ‘lottery’. Novartis manufactures Zolgensma, the Rs 16 crore drug that halts the progression of SMA. To say that the news that Diya would receive the drug for free came as a relief to her parents would be an understatement.

Diya received the drug, Zolgensma, through a programme that Novartis runs — the global Managed Access Program (MAP). Under this, 100 children are selected through the year to receive the drug at no cost.

For parents whose children are diagnosed with type 2 Spinal Muscular Atrophy, a giant barrier is procuring the Rs 16 crore drug, Zolgensma by Novartis, that halts the progress of the disease. Diya Nandagopal was officially diagnosed when she was seven months old. The drug can only be administered to children below the age of two and it is better when the child receives it as early as possible. 

Diya was diagnosed with SMA early as her mother, Bhavana, a paediatric physiotherapist, noticed that her baby had symptoms and brought her to an SMA specialist at Bengaluru’s Baptist Hospital. Three weeks after they gave the blood samples, on October 2, the parents got to know that Diya had SMA. Even if one was to pay for the drug, samples have to be sent to the Netherlands – to Novartis – to check whether the patient can receive the drug or if they will reject it. After receiving the report that Diya could receive the drug, her doctor sent her profile for MAP as well. Novartis doesn’t select the candidates on its own but sends it to a third party for blinded selection.

SMA is a rare genetic disease that leads to progressive muscle weakness, paralysis, and when left untreated in its most severe forms, permanent assisted ventilation or death occurs in 90% of cases by the age of two. SMA is caused by a lack of a functional survival motor neuron 1 (SMN1) gene, and in the most severe forms of the disease, results in the rapid and irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement.

Diya’s parents swung into action and started a crowdfunding campaign — while they hoped that she would get the drug through MAP, they had to prepare for the chance that she wouldn’t as well. Nandagopal, tells TNM that doctors had prepared them to keep funds ready, for hospitalisations and other incidents that may arise and cannot be predicted, and that pushed them towards the crowdfunding route. It is important to note that there are costs involved after children receive the drug as well.

Diya with her parents Bhavana and Nandagopal

Within 4-5 days of the campaign running, the couple had raised roughly Rs 2.7 crore towards the cost of the drug. On November 18, Diya’s doctors received news that she had been selected, and she received the drug on November 27.

The Baptist Hospital in Bengaluru has been an anchor for SMA treatment in the country, and this helped, says Bhavana. “They have their system in place. They have the people so they were able to guide us quite fast on how to get things done, and that was a big advantage,” she says.

Nandagopal acknowledges that there is a long journey ahead after the rollercoaster year they have had — from Diya’s birth in January to her receiving Zolgensma in November.

“We feel mighty relieved, and it's the biggest boon we could get. The fact is that in all the research we did, everybody said that this is a wonderful drug and it was really out of our reach,” Bhavana says.

In the little over two weeks that Diya has received the drug, Nandagopal says they have started noticing small changes. “For example, earlier, when she was on the bed and we would lift her legs, she wouldn’t be able to hold it up and used to just drop down. Today, she’s been able to hold it for a few seconds. As a parent of an SMA child, these small changes are big changes for us. We know when we carry her, she's become a lot firmer, so she's able to control her body. Earlier, after a few seconds, she will just fall onto you. She's become much louder as well. These small encouraging signs that we started noticing in the last two weeks,” he says. 

Now, since it’s gene therapy and Diya is immunocompromised, the parents are vigilant to ensure she doesn’t get any sort of infection. 

For this kind of rare infection, when asked what kind of support they would have liked to have received from the country’s healthcare system, Diya's parents had only one answer — insurance. “I think we need clarity from an insurance perspective that genetic diseases also should be covered,” he says, adding that right now, they are unsure if Diya will be covered by insurance even if she has something like a fracture. 

But for now, for Diya’s parents, how it all worked out seems a little unreal. 

Read: A drug that can save the lives of kids costs Rs 16 crore. What India can do