Mummy is afraid of the daughter’s rapid decline without drug
The mother of a five -year -old girl with a terminal genetic disorder has said that her daughter’s health is likely to deteriorate quickly if NHS removes the provision of important drugs that “is doing”.
Two years ago, Beatrice Cylic was detected of the CLN2 type baton disease – a rare degenerative condition that causes recovery, blindness, dementia and dynamics and difficulty with speech.
He is currently treated with drug brine, allowing him to go to school and live “better quality of life”.
The use of NHS until the drug is scheduled to end in May, but the National Institute for Health and Care Excellence (NICE) described the conversation with NHS England and developer Biomerin as “creative”.
The mother of Doncaster’s Beatris, Anna said: “Not only do we have got to live with our child for a life-limiting disease, but the medicine that is keeping all these things can be pulled. Is.
“Without it, she will deteriorate very quickly.”
No cure
Since 2019, Brinura has been provided for eligible NHS patients under a managed access agreement, with that access to that access in October 2024.
Without any treatment, life expectancy for a child with baton disease is 10–12 years old.
“You are not ready for things. Birthdays are to be pleasant, but for us it is close to one year of death,” Anna said.
“There is no option. There is no cure, and it comes down to money – but how much is the life (value) of a child?”
NHS England confirmed whether the drug was “clinical and cost effective”, data was being collected to determine.
Brinura, or Seraliponus alpha is the only approved treatment for disorders.
According to Nice, a fortnight, the cost of 300mg dose of Brinura is 522,722 £ 522,722 per year.
Anna said that Beatrice is currently living a normal life “just a little more support” thanks to the prescribed medicine.
“This is not a cure – and it’s heartbreaking. (But it gives) compared to a better quality of life she usually is,” she said.
“The child we see is happy and gossip, and we never take it, ever.”
It is estimated that CLN2, which is the only type of baton disease treated with Brineura, affects between 30 and 50 children in the UK.
The drug infusion works by restoring enzyme activity in the brain that is absent due to a genetic error. This means that harmful products are removed, which slows down the fall and the onset of disability.