Parent's plea for muscular dystrophy drug for son

Jack aged six was diagnosed with Duchenne muscular dystrophy in 2022

The family of a boy with a severe degenerative muscle disease has urged their local hospital to prescribe a drug that could help slow down the progress of the condition.

Six-year-old Jack was diagnosed with Duchenne muscular dystrophy in 2022. The disorder causes muscle weakness and means Jack struggles to walk and sometimes uses a wheelchair.

His parents Stephen and Jenny have asked Sheffield Children's NHS Foundation Trust to approve the use of drug givinostat, which they hoped would give their son a "relatively normal childhood".

Dr Jeff Perring from the trust said staff were working to ensure they had the "necessary resources and safety measures in place to provide the drug safely".

Jenny described Jack as a "happy, outgoing and adventurous" boy, who "wants to be a tram driver" when he is older, but she said Duchenne would limit his life expectancy.

"We know that it normally starts in the lower limbs, but over time will then spread to his upper body, and also affect the muscles such as his heart and his lungs as well," she said.

"He'll come home sad from school sometimes because he says his friends have run away from him at playtime and he can't keep up with them."

Stephen said managing his son's illness "day to day" was tough.

"When you go out to these play centres and you're seeing kids younger than him being able to get over obstacles on their own, it is difficult," he said.

"I'd never change him though and I'd carry him until I couldn't carry him anymore."

Jenny and Stephen want the drug givinostat to be made available to all people with Duchenne

Duchenne begins in early childhood, usually affects boys rather than girls, and progresses quickly.

It can affect a person's life expectancy and many people with the condition will only live into their 20s or 30s.

Givinostat was approved for the treatment of patients aged six and older in December 2024. There is no cure for the disease but the drug can help slow the progress of the disorder.

Jack is currently on a course of steroids and receives regular treatment at Sheffield Children's Hospital.

However, many NHS trusts are offering the drug to patients as part of an early release programme.

Una Farrell from the charity Duchenne UK said Sheffield Children's NHS Foundation Trust is now "an outlier".

"The one thing that's worse than having no treatment is actually having a treatment and not being able to access it, so it's been torturous for families over the last year."

Jenny said the drug had provided "a little bit of hope for the first time in three years".

"Duchenne doesn't wait," she said.

"Every day these boys are getting progressively worse.

"Jack could have a relatively normal childhood and again it gives us hope because it will buy us more time.

"Jack's life expectancy is in his early 20s but the hope is that with givinostat that can be extended."

Dr Perring, executive medical director at Sheffield Children's NHS Foundation Trust, said he understood the importance of getting access to potential treatments as soon as possible.

"We understand the immense challenges and worries that come with a diagnosis of and living with Duchenne muscular dystrophy, and the anxiety that comes with waiting for new treatments," he said.

"We are working to make sure we have the necessary resources and safety measures in place to provide the drug safely."

An NHS spokesperson said: "While this drug is currently being assessed by the National Institute for Health and Care Excellence to determine if it can be offered by the NHS for all eligible patients, many hospitals have worked hard to identify the extra staff and resources needed to deliver the manufacturer's early access programme and safely provide givinostat to as many eligible patients as possible."

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