The family of a youngster from the county fear that funding for the first drug to target the cause of their son’s life-limiting condition might be rejected.
Lilian and George Pegg have been campaigning to get Duchenne muscular dystrophy drug, Translarna funded on the NHS.
At the age of three, their eleven-year-old son George was diagnosed with the condition, which causes muscles to weaken and waste, including the heart and vital breathing muscles.
The youngster has been taking Translarna as part of a clinical trial, and was one of a group of children who earlier this year delivered a letter to 10 Downing Street asking for the Prime Minister’s help in speeding up a decision on NHS funding for the drug.
The couple will hear before Christmas whether the drug will be made available through the NHS for George and 50 other children in England.
Last month they were told that NICE would not recommend NHS access to Translarna, without more justification of its cost and evidence of its impact.
Children must still be walking to be eligible for Translarna, and with most needing a wheelchair before the age of 12, there are fears delays will mean some children miss out entirely.
Lilian said: “Translarna has had an enormous impact on George’s quality of life. He began taking it as part of a clinical trial just 18 months after he was diagnosed.
“He suddenly had more energy and learned to run, jump and hop for the first time, all things you usually take for granted in a five year old.
“Today, George is still doing amazingly well. He turns twelve in a couple of weeks, and is still walking, and looks to be doing so for a good while yet. Most boys loose the ability to walk by 12, some as young as six.
“Families like ours need hope. Translarna offers this to all people living with Duchenne, not just those that it could directly help. It’s terrifying to think that NICE could take this hope away.”
In August 2014, Translarna became the first therapy tackling the underlying cause of Duchenne muscular dystrophy to be approved in the EU.
While the drug was available in countries including Germany, France, Spain and Italy within months, families across the UK have faced agonising waits for news on funding.
Last month a four-year-old from Scotland became the first child in the UK to receive NHS funding for Translarna, through an Individual Funding Request – a route that English families have been told will not work for them.
Robert Meadowcroft, Chief Executive of Muscular Dystrophy UK, said: “Families have hoped for decades for a way to intervene in the merciless progress of Duchenne muscular dystrophy.
“Translarna is the first treatment ever to offer this chance. When NICE meets on Tuesday, we urge them to do all within their power to find a workable solution for delivering on this long-awaited breakthrough.
“The childhoods of many eligible young people across the UK, could be transformed.
“It is deeply encouraging that today, more and more therapies for Duchenne muscular dystrophy are reaching clinical trials. As Duchenne is progressive, we cannot afford to go through this convoluted and painful process each and every time a new therapy is in sight.
“The emotional cost for families simply cannot be justified.”