Tot with 3 years to live saved by world's most expensive £1.79million treatment now on NHS

The squeaky toy, the hand waves and words of gentle encouragement – every parent has done it to usher in that landmark moment where their baby sits unaided.

For six-month-old Tora Patgiri, the exercise had a lethal undercurrent. Sit up independently for 10 seconds and she would be admitted to a clinical trial for a revolutionary gene therapy; fail and she would be at the mercy of a devastating condition.

Tora was born with severe spinal muscular atrophy (SMA), a genetic disorder that causes irreversible muscle wastage and comes with a two-to-three-year life expectancy.

Her lifeline to the new treatment depended on her holding that pose to meet strict trial entry criteria. Parents Rajdeep and Taisiya had spent hours coaxing her to sit but when the clinicians started the stopwatch she could only manage three seconds before using her hands for balance, so a place on the trial was denied.

It was another setback on the family’s quest to save their precious daughter with access to a gene therapy that costs £1.79million per patient – the most expensive drug in the world. It led the family to move from the UK to the US before they secured treatment nearly two years ago.

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Tora is now almost three years old and speaks three languages – English, Russian and Assamese. There are still some issues with her physical development but they won’t stop her from going to school or getting a job, having a family and living a full life – every parent’s dream.

“It is incredible. This drug is a miracle,” says 41-year-old Rajdeep, who transferred jobs to the US, moving from London to Ohio after Tora did not meet the criteria for another trial at Great Ormond Street Hospital.

“We are so happy, and relieved, and we can now watch Tora grow and thrive.

“We had to consider the worst as 95 per cent of children born with SMA do not survive beyond two years. Now we can talk about her future.”

The drug, Zolgensma, is part of a new wave of treatments where a patient’s faulty gene mechanisms are corrected by replacement genetic material engineered in a laboratory. The innovative nature of the drug and its sky-high cost meant it was only available on clinical trials in the UK until the NHS approved it this year.

For Tora, that decision would have been too late.

“She was losing physical abilities every day and we could not wait,” adds Rajdeep who has now moved his family back to Kingston, South West London, where Tora has just started nursery school.

“The cost to the healthcare budget is high but it is a one-off treatment that will last Tora’s lifetime. It is amazing that other families in the UK will now benefit from it too.”

The first signs that her development was off track came at three months when she was reluctant to spend time on her tummy and the movements in her arms and legs were significantly less than other babies.

“The alarm bells really went off when my wife took a video of her with another baby and their range of movements were vastly different,” says Rajdeep. “We took her to hospital and a series of assessments followed. We worried it was cerebral palsy and then they mentioned SMA and we ­discovered the prognosis was dire.

“My mind went blank. My wife started crying and we were in a state of shock. I don’t remember anything that happened from there until the next day. We were faced with the prospect of having to say goodbye to her at some point soon. Our life was turned upside down.”

With Zolgensma yet to be licensed, the family applied for a trial at Great Ormond Street Hospital, but Tora did not qualify. The refusal prompted Rajdeep to ask his company for a transfer to America. US medical authorities had approved the ­treatment for children up to the age of two, which made Tora eligible through Rajdeep’s company insurance.

“We would do anything to help our daughter, just like all parents, and were hugely fortunate enough to get her treatment before it was too late,” adds Rajdeep, a financial trader.

SMA, which affects about 80 babies and children a year, is a hereditary genetic mutation triggered when both parents are carriers. It causes the motor neurons that are responsible for muscle movement to die. As they do not regenerate, people with SMA suffer progressive muscle weakening and generally die of pneumonia as their lungs fail.

The gene therapy, given as a one-time infusion, works by delivering replacement genes into the ­bloodstream which cause the motor neurons to work normally.

“SMA is so awful because you cannot recover the damage already done. But you can stop the damage ­continuing,” said Sally-Anne Tsangarides, of Novartis Gene Therapy that developed the drug.

“It is difficult to spot as a baby starts sitting unsupported from about three months and then develops other motor skills up to ninemonths.

“It is vital therefore to get an early diagnosis. If we could treat a baby at two weeks old with gene therapy they will have suffered much less damage than at nine months. We really need to be considering adding SMA to the baby heel prick test.”

The landmarks for Tora may be different, but they will come.

“She can walk a few steps with a walker but we have been told not to focus on specific milestones,” adds Rajdeep. “The cost of this treatment is very high but it is a gift of life.

“Tora now has a future – at one stage she would have been unable to survive. We are so thankful.”