The mother of a two-month-old baby with a rare spinal condition has said her son is “doing OK” after he became one of the first patients in England to receive the “world’s most expensive drug”.
Mother Gunita said baby Markuss, who has spinal muscular atrophy, slept through the one-off, hour-long gene-therapy treatment with the potentially life-saving drug Zolgensma at Sheffield Children’s Hospital.
Gunita, who is from York, said: “The health visitor noticed that something was wrong soon after he was born.
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“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.”
She continued: “The whole infusion thing was over in an hour and Markuss slept through all of it.
“I was really nervous before but he’s doing OK.
“It’s just the one treatment – they gave the missing gene back to him.
“Everyone at Sheffield Children’s Hospital has been just awesome. I’d like to say thank you to everyone for saving his life.”
£1.79 million dose
A hospital spokeswoman said Zolgensma, which has a list price of £1.79 million per dose and is known as the “world’s most expensive drug”, can provide improvement in motor function and prolong the lives of children with a specific type of SMA – a rare and often fatal genetic disease that causes paralysis, muscle weakness and progressive loss of movement.
Markuss received the drug through a drip inserted into a vein and should be able to go home around two weeks after receiving the treatment following post-infusion check-ups.
The spokeswoman said the expectation is that Markuss will now have a better chance of sitting, crawling and walking, things that children with Type 1 SMA struggle to do.
Zolgensma was made available to the NHS after a landmark deal with Novartis in March.
Jeff Perring, medical director at Sheffield Children’s Hospital, said: “This treatment will really improve the quality of life for these children and we’re proud to be part of this great advance in treatment using gene therapy.”