Duchenne muscular dystrophy: Hope for families as new medication rolled out to first Scottish children

Families of children living with a progressive muscle-wasting condition have welcomed the roll-out of a new drug that could slow the impact of the disease.

They have been fighting for months to gain access to medication for Duchenne muscular dystrophy (DMD), which is found almost exclusively in boys.

The condition has a massive impact on mobility and eventually begins to affect a patient’s organs. The average life expectancy for someone with Duchenne is roughly 29 years.

Givinostat, which can slow progression by months or even years, is currently awaiting approval for NHS use, but an early access programme (EAP) is available for those who qualify.

Families had previously been told that limited resources would delay their children from receiving the treatment.

A campaign put pressure on health boards and health secretary Neil Gray to find a way to speed up the roll-out.

It was backed by high-profile Glasgow lawyer Aamer Anwar, who was prepared to support the families with legal action.

Now, the first of what’s thought to be 30 eligible boys have begun to receive their first doses of givinostat.

One of those is ten-year-old Riley Wilson from Angus. His ‘Nana’ Janice hopes the medication will make a big difference.

She told STV News: “I would have imagined he would have been in a wheelchair within a couple of years, but with this drug, hopefully that might be extended until he’s into his mid-teens.

“It’s not a cure, we all know it’s not a cure. But hopefully it will slow down the process of the disease and give them a lot longer on their feet.”

Riley is feeling the impact of Duchenne – his aunt Joanne says stairs are “a real struggle” for him.

“He struggles to hold on, and if he’s taking his (Nintendo) Switch or that upstairs, he needs a hand,” she said.

But the youngster is still able to do most of what he enjoys, like going to the park and playing football with his friends – something it’s hoped givinostat will allow him to enjoy for longer.

Timescales for prescribing givinostat vary between health boards, but more are expecting to begin handing out the drug in the coming weeks.

Eight-year-old Sam Millar and his parents, Stephen and Karla, have been at the forefront of the campaign.

Dad Stephen told STV News: “We got a telephone call from Sam’s consultant at the Sick Children’s Hospital in Edinburgh to let us know that Sam will be getting the givinostat medication from the end of July, early August.

“It’s been very emotional. Immediately after the call, Karla just burst into tears, and I think that sums up what this means to us as a family.”

Karla added: “It’s a bit like a weight has slightly lifted off your shoulders.

“Obviously, the fight is not over until we have the medication in our hands and we start giving it to Sam.”

While DMD is a rare condition, around 2,500 people in total around the UK are living with the disease.

Campaigners hope givinostat can be given to more than the roughly 30 children currently set to receive the drug in Scotland.

Karla said: “It will take a wee while for all the boys to get this.

“But the boys who are non-ambulant (unable to walk independently), they are now the ones who we need to fight for.”

Emily Reuben, the chief executive of Duchenne UK, and Alex Johnson, the chief executive of Joining Jack, both have a son with DMD.

They said: “There’s something worse than having no treatment – and that’s having a treatment, available to the NHS for free, but no one can work out how to administer it.

“I’m delighted that clinics in Scotland have solved this problem and are committed to rolling out access to the EAP for their patients.

“Now is the time for the rest of the UK to follow Scotland’s example and provide a plan and timescale to roll this out for everyone who is eligible.”

Health secretary Neil Gray said: “I understand this is an anxious time for the young people and their families and recognise how much it affects their lives.

“I welcome the roll-out of the early access programme for givinostat for eligible children who have been diagnosed with Duchenne Muscular Dystrophy and who are still walking.

“The Scottish Government wants all children and young people living with DMD to benefit from new medicines, such as givinostat, and live longer, fuller lives. Health Boards have now started to contact all families with children eligible under the current national early access programme, to set out the timelines involved.

“We continue to work with the four Health Boards providing regional services to those with DMD in order to support access to givinostat as soon as possible for all children who have been diagnosed with DMD, including those who are not able to walk.”