Five-month-old with spinal muscular dystrophy could be saved with gene therapy

One in 10,000 babies worldwide are affected by spinal muscular dystrophy

child

Five-month-old Teera, placed on a ventilator in a suburban Mumbai hospital continues to battle for strength to breathe on her own, as father Mihir Kamat nervously fields calls from donors and altruists in the hope of crowdfunding her surgery. Teera suffers from Spinal Muscular Atrophy — a rare condition which has led to a complete breakdown of nerve cells in her brain and spinal cord thereby leaving her with no control over muscle movement in her body.

Her parents, Mihir and Priyanka Kamat have taken to social media to collect a mind-boggling amount of Rs 16 crores (Rs 10 crores have been raised so far) for the surgery which will give back their daughter the very 'gene' that went missing at the time of her birth, thereby leading to SMA. But time is passing by. "On February 14, she will complete six months and SMA babies are known for not surviving beyond six months," says an anxious Mihir, exhaustion evident in his voice. 

"In the past week, she's been having constant food reflux issues. Yesterday, before giving her anti-reflux medicine we heard her making a throaty, gargling sound. Within seconds her lips turned blue and then slowly, her face. No breathing sounds, no movement in the abdomen. After a desperate round of back-patting, chest massage and throat suctioning, we cleared her airway. She was pale white, looked ghastly and is now under round the clock intensive care," tweeted her mother, Priyanka Kamat, an illustrator by profession who invests all her time in care for her baby. The couple started their fundraising journey after they read an article about a Canadian family which successfully raised 2 million dollars for their daughter, for acquiring the same drug as Teera needs. Coincidentally, the day they read the story, was when they received their daughter's diagnosis for the very first time when she was barely two months.

"She was born perfectly healthy at 3 kilos. Only about two weeks later that we could see her first symptoms emerging, such as constant refluxes, choking, rapid weight loss," says Mihir, an IT professional who's taken to working from home ever since Tera was born. It was during her vaccinations when Kamat was asked to refer the child to a neurologist. "Unlike normal babies who would cry in pain when given injections, Teera never showed any reflexes. Instead, she kept smiling.” 

Later, a genetic test diagnosed her for SMA, Type 1— a genetic disease which affects the central nervous system, peripheral nervous system and voluntary muscle movement. As the disease progresses, children find it difficult to carry out basic activities like sitting, swallowing and even breathing. SMA is the biggest genetic cause of infant deaths worldwide, affecting one in 10,000 babies. "Now it is only a matter of time. We need to procure the drug as soon as possible for my baby to be able to live well. An unsettling fear that we are very close to losing her looms large, but there is also strong confidence that she will kick SMA's butt and win this fight," says a distraught Mihir. The drug is essentially a one-time gene replacement therapy, Zolgensma which replaces the function of the missing or the non-working survival motor neuron with a new one, thereby targeting the genetic root cause of SMA. "The problem now is of importing Zolgensma to India and doing it very quickly. I'm worried about the 23 per cent import duty and 12 per cent GST I'll have to bear for it," says Mihir. 

Globally, less than 500 children have been treated with Zolgensma so far. 

"It is heartbreaking to see her smile through a hospital ICU window. She should have been in our arms, playing cookie. We are going to make it happen," says Mihir, as tears well up in his eyes. The family still needs to raise about 6.25 crores and is urging every good samaritan to come to their aid.