The parents of two boys with a life-shortening disease are desperately fighting to have a pioneering drug trial extended after it was axed by the NHS.
Claire Bosanquet, 50, and husband Ian, 56, are campaigning to persuade authorities to approve the drug which made a positive impact on their teenagers during a trial in 2009.
Their sons Jack, 16, and Tom, 13, both have a rare muscle-wasting disease called Duchenne muscular dystrophy (DMD).
The genetic condition, which has no cure, is caused by a lack of the protein needed for muscles to function properly and most sufferers don’t live past early adulthood.
Claire and Ian say they saw huge improvements in the health of their boys, including them having more energy, during a trial Eteplirsen.
The drug is now being considered for approval in the UK and last week Claire and Ian took their fight to Parliament.
They met with representatives from NHS England and the National Institute for Health and Care Excellence (NICE) to try and persuade them to allow the drug to be accessed on the NHS.
But there are concerns over the costs after the American company which developed it said it would charge a staggering £237,000 per patient per year.
Today (Tue), Claire, who lives with Ian and their sons in Keyworth, Notts., said: “How do you tell a little boy that you were part of a drug trial, that it worked a bit, but you can’t have it any more?
“I noticed they both had more energy (after the drug trial).
“Tom used to fall asleep in the afternoon and he didn’t do that when he was on it.
“We came away from it (meeting in Parliament) feeling quite positive, it gave us a bit more hope again. But we’re also mindful that it might not come through.
“We’re quite realistic, it’s not a cure but if it gives the boys some benefit that increases their quality of life then it’s worth going for.
“Jack and Tom can entertain themselves now because they’ve got arm function but as that disappears they’ll become increasingly reliant on technology or somebody else to do things.
“We’re not going to get a cure in Jack and Tom’s lifetime but we’re on the way.
“And if we’ve helped make a difference for all the people coming after us then it’s all well and good.
“People often say to me ‘I don’t know how you do it’ but we haven’t got a choice.
“Either we fight and carry on or we crumble and then we’re no good to anybody.”
Ian added: “There’s always hope but a sense that we’ve been here before.”
The parents also have the backing of the charity Muscular Dystrophy UK and Labour MP for Gedling Vernon Coaker who attended the meeting in Parliament.
He said: “I will do all I can to ensure that the drug is made available to them so they can get whatever benefit they can from a drug that clearly works.
“Muscular dystrophy is a horrible condition so anything that helps must be made available.”
Nic Bungay, director of campaigns, care and information at Muscular Dystrophy UK, said the drugs now being developed were “truly ground breaking”.
He added: “It is therefore crucial that once the European Medicines Agency licence the drug for use in Europe that UK regulators act with urgency so all the boys that could benefit receive it swiftly and without delay.
“It is incredibly stressful and heart-breaking for families to watch their child’s condition worsen while they wait for drug approval.
“Any treatment that potentially slows down the devastating effects of Duchenne brings hope to families across Britain.
“Every second counts with this cruel condition and we will fight for fast access to this drug all the way.”
Claire and Ian were given the devastating news that their sons both had DMD in 2003 when Jack was three-years-old and Tom was just a few months old.
The rare muscle-wasting disease affects one in every 3,500 boys born in the UK and develops gradually, with symptoms showing in early childhood.
Jack and Tom were both selected to take part in the Eteplirsen trial in 2009 with the drug designed to force the body to produce the missing protein dystrophin.
Despite encouraging results, the boys were not allowed to continue taking the drug once the trial ended and are waiting to find out if they will be able to use it long term.
The teenagers, who are both fully wheelchair-dependent, need round-the-clock care and take steroids to preserve their muscle use.
They also take heart medication, calcium and vitamin D supplements and coenzyme Q10 to help with fatigue which are the only treatments available for DMD.
Claire was forced to quit her job as an occupational therapist to care full-time for the boys while Ian does his work as a systems analyst from home.
Eteplirsen has the potential to benefit 15 per cent of boys with DMD, including Jack and Tom, because it targets their specific genetic mutation.
Sarepta Therapeutics, the American company which developed the drug, is now seeking approval for its use in the UK after it was granted consent in the USA earlier this year.
It was given ‘accelerated approval’ which means Sarepta is required to prove the benefit of the drug in order to keep it available.
But Claire believes NHS England are likely to ask for more evidence of its benefits before agreeing to fund it because of the high costs.
A spokesperson from NHS England said: “We have real sympathy with any patient facing these illnesses.
“To ensure they are safe and effective, all drugs in the UK must first get a license from the Medicines and Healthcare Products Regulatory Agency (MHRA) before they can be assessed by NICE and considered for funding by the NHS.”
A NICE spokesperson confirmed it had been asked to consider the drug for the treatment of DMD.