Sheffield Children's Hospital: Baby 'doing OK' after SMA drug first

A two-month-old baby is "doing OK" after becoming one of the first patients in England to be treated with a potentially life-saving drug.

Baby Markuss, who has Type 1 spinal muscular atrophy (SMA), was treated at Sheffield Children's Hospital.

The drug has a list price of £1.79m per dose and was made available on the NHS after a deal with the manufacturers.

The British Medical Journal previously called it "the most expensive drug course of treatment ever" .

Babies born with Type 1 SMA experience progressive muscle weakness, loss of movement, difficulty breathing and have a life expectancy of two years.

The one-hour intravenous infusion works by providing a copy of the gene known as SMN1, which the body needs to make a protein essential for the normal functioning of nerves which control muscle movement.

Mother Gunita, from York, said: "The health visitor noticed that something was wrong soon after he was born.

"Markuss was tested at our local hospital, where they told me that he had Type 1 SMA - that was when he had just turned two months old.

"We were then told about this treatment and decided to go for it.

"Two weeks after that, we were in the hospital having the gene-therapy treatment - everything happened so fast and quick.

"It's just the one treatment - they gave the missing gene back to him."

A hospital spokeswoman said the drug, Zolgensma, could provide improvement in motor function and prolong the lives of children with a specific type of SMA.

It was made available to the NHS after a landmark deal with Novartis in March.

Four approved hospital trusts - in Sheffield, London, Manchester and Bristol - will work together in collaboration with regional neuromuscular centres across the country to share expertise and experience with the new therapy.

The baby's mother continued: "The whole infusion thing was over in an hour and Markuss slept through all of it.

"Everyone at Sheffield Children's Hospital has been just awesome, I'd like to say thank you to everyone for saving his life."

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