'Need govt support, genetic testing to save our kids'

Alpana Sharma and Nishant Kumar, the founders of CureSMA Foundation that has started the awareness campaign, with their only son, Arav, 8, who was dianosed with SMA2 when he was 14 months old

Two infants, one aged six months and another 11 months from Mumbai, have succumbed to the rare genetic disorder Spinal Muscular Atrophy (SMA) over the past few weeks. They both suffered from type 1 of the neuromuscular disorder and passed away waiting for the treatment, which is not just expensive but also very hard to get.

Names of both the children were shortlisted for a global lottery -- one for gene therapy and another for oral therapy. As part of corporate social responsibility (CSR), three companies of Global Pharmaceuticals pick four names every month from the list of global infant patients fighting SMA to provide their most expensive therapy free of cost. Both the infants were picked up in the lottery, but it was too late.

Over 450 young parents across the country have one thing in common -- their child has been diagnosed with different types (1 to 3) of SMA. One among them is three-month-old Teera. mid-day had, under the title "Baby with genetic disorder needs R16 crore therapy to live", reported on December 11 about the struggles of her parents -- Mihir, 35, and Priyanka, 33, -- in getting treatment for her.

In an effort to make the treatment readily available, the parents of SMA patients have now come together and started a new campaign through 'CureSMA Foundation of India'. The aim is to spread awareness on the ailment. They are now working on making the first-of-its-kind registry for SMA patients in the country. 'CureSMA Foundation of India' is the brainchild of Kharghar-based couple -- Alpana, 38, and Nishant Kumar, 39, whose only son Arav, 8, was diagnosed with SMA type-2 when he was only 14 months old. He is currently studying in Std III.

"We were shell-shocked and numb. The more we learnt about the disease, the more our world crumbled. Grief and tears began to choke me. Children suffering from SMA are born with a death sentence. It's a progressive, life threatening, debilitating condition causing multiple complications. My head would pound and throb with questions. Why me? Why my child? Cursing myself," said Alpana.

"Parents of a child born with SMA live in a constant fear because a simple cold and flu can turn into pneumonia and be fatal. Every day counts as we see our child being pushed towards death. SMA1 patients don't see their first or second birthday. Those with SMA2 neither die nor live due to severe scoliosis, rapid disease progression, confined to wheelchair, constant bracing, severely compromised lung function, aspiration pneumonia, frequent hospitalisation, extreme deformities," she said.

Alpana said three FDA-approved therapies for SMA have existed since 2019. "However, very few patients in India have access to these life-saving treatments available through managed and compassionate access programs run at the mercy of pharmaceuticals. Early intervention can save lives. The sooner the children receive the treatment the better it is."

"It's a race against the time for parents whose children are diagnosed with this condition. It's like someone has tied a time bomb on our back and we are running with the clock tickling and the bomb can blast anytime," she added. "My brother, who lives in California, told us about a conference being held there on SMA and coaxed us to attend it. It was the annual conference of ‘Cure SMA' -- the largest SMA conference in the world attended by doctors, scientists, researchers, affected families and communities. It was an eye-opener," she recalled.

Launched support group
"We came back to India a changed person with a positive mindset. I began looking for an SMA organisation, but realized there was none. So I decided to set up a support community for families with children suffering from SMA and named it 'CureSMA Foundation of India' [www.curesmaindia.org]. It started as a Facebook page with 10 members and has grown into an organisation with 450 members within a few years," Alpana said.

The ray of hope
The SMA world has changed with new promising therapeutic options. Spinraza, Zolgensma and Evrysdi. The recently approved Evrysdi, the first oral take home medicine for SMA developed by Roche Pharma. Due to strong and continuous advocacy of CureSMA India with Roche Pharma, they have agreed to bring Evrysdi to India. Its price in India is expected to be low. Roche has already provided Evrysdi to a small number of critically ill SMA patients under compassionate use program.

We need assistance
CureSMA India is committed to Indian SMA community and it has been our endeavour to bring the treatment to India. But the huge cost of these medicines is the barrier to access and we need assistance from the government to save SMA patients. It is our humble request to kindly look into the matter to provide some financial support to help save the life of our dying children. The disease is like a poison spreading slowly in their bodies. It's absolutely heart-breaking for us to see our children wasting away in front of our eyes despite the fact that there is a promising medicine available. Just because of lack of funds, our children are dying.

Mihir and Priyanka have also become members of the foundation and the NGO has registered their daughter Teera for the lottery. "Contribute your time. We are in for the long haul in our fight against this deadly disease. The best course of action is to raise awareness and get the necessary infrastructure set up in India. Only time and continuous lobbying will contribute to long lasting change," they appealed.

They added that the treatments available are not "affordable, so please donate with your heart so we can save Teera's life." They also called for spreading the word on genetic testing. "Healthy parents could have a baby with genetic issues. Genetic testing in India is in a nascent stage, with limited labs and clinics for diagnosis. We need to tell others about genetic testing, so this becomes a common practice just like it is western countries like the US and Canada, where genetic screening is part of postnatal care."

In their appeal to the policy makers and government authorities, they said, "Many parents, like us, are already fighting this rare and terrible disease and are watching their babies wither in their arms. We ask that such life-saving treatments be made available in India at a reasonable and affordable cost, and made available without families having to burden themselves through time consuming fundraising, extensive paperwork, and customs and import costs/formalities. Please work with the pharmaceutical and insurance companies to make these treatments available and affordable."

Experts, academician speak
Dr Shekar Patil, consulting paediatric neurologist, said, "SMA is one of the many neurological disorders for which we have no definite cure other than providing supportive care. This is among the rarest of rare disorders seen in 1:8,000 infants. Early diagnosis of SMA during initial few weeks of delivery is very crucial, as it will at least help in understanding the type of SMA and provide supportive care. The need of the hour is to have a parent's support group."

Dr Wiqar Shaikh, professor of medicine at Grant Medical College and Sir JJ Group of Hospitals, said, "This was a topic in ‘neurology' subject which I have been teaching to my students of final year MBBS and MD for the past three decades. And even in the early days, though there was no treatment for SMA, the topic was very much a part of the curriculum, as it was one of the neurological disorders, for which there was no cure and from the student academic point of view, this topic could not have been ignored. The irony is that even in the 21st century, we have no headway into such neurological disorders, despite intensive research done at various international platforms."

Dr Shaikh said zolgensma is a gene therapy medication developed by Swiss pharma company Novartis and is used to treat SMA. "It was approved for treatment of children aged below two years in 2019 and is a one-time injection. But the real problem is zolgensma's cost which is $2.1 million (approximately Rs 16 crore). The official website of this drug clearly mentions that ‘zolgensma is not a cure and cannot reverse damage already caused by SMA before treatment. Your child may continue to show signs and symptoms of SMA now or in future. Additional therapies, accommodations and support may be needed to help manage your child's SMA and guide his or her ongoing development'."

"One wonders, therefore, whether this drug should be considered, given its cost. The Rs 16 crore label is bound to put zolgensma out of reach of patients in the poor, underdeveloped and developing countries, and government support will certainly be needed if this drug has to reach the common man," said Dr Shaikh. Genetic disorders are common even in the Indian population. Dr Shaikh believes that prevention is better than cure and mass genetic testing is the need of the hour and this is what will help detect gene abnormalities in couples and prevent genetic disorders manifesting in children.

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