BBC News, West Midlands
BBCA woman has said she feels “massively relieved” after being told her daughter will now have access to a life-enhancing drug indefinitely.
Phoebe’s six-year-old daughter Flory lives with CLN2 Batten disease, a rare and untreatable genetic disorder affecting about 40 children in the UK.
After months of uncertainty, health bosses this week revealed those already taking or soon to start treatment could continue to have it beyond the end of May.
But Phoebe, who lives in Coventry, believes it is also “brutally unfair” not all young people affected will benefit, and has vowed to keep fighting so everyone can access the drug.
CLN2 Batten disease causes a rapid decline in a child’s ability to walk, talk and see, with an average life expectancy of about 10 years.
Drug Brineura is the only approved treatment that slows the condition’s progress, but NHS access was due to end in May.
The National Institute for Health and Care Excellence (NICE) revealed on Thursday that NHS England (NHSE) had come to a new agreement with its maker, BioMarin, regarding existing patients.
But it costs about £500,000 per child per year, and is not being recommended for future patients “due to its high price and the limited evidence of long-term effectiveness”.
After she had receiving confirmation Flory’s fortnightly treatment would continue, Phoebe said: “Families will see our children living longer with a better quality of life, while being completely hopeless.”
She said getting the drug on the NHS had been “absolutely monumental” for Flory, and she believed her daughter was still walking, climbing and eating thanks to it.
“To know that she’s going to have access to this indefinitely… is everything,” she said.
“This treatment completely changes the trajectory of her life. Before, her entire life was uncertain.”
But while it is a massive relief for her family, she is determined to keep advocating for others.
Phoebe urged decision makers to do the right thing, adding they were “halfway there”.
“Every child should be able to access this treatment,” she said.
“It is is life-changing. To offer it some and not others seems brutally unfair.”
FamilyNICE said it would keep working with NHSE and BioMarin towards a long-term deal for all patients after a managed access agreement ended in December.
“We know this is not entirely the news people in the Batten Disease community were hoping for,” said NICE director of medicines evaluation Helen Knight.
“However, this is not the end of the story. We will continue to work with all parties towards a solution.”
The Batten Disease Family Association said it was pleased with the agreement, but would continue to push for Brineura to be accessible for all children.
