Latest news with #CLN2BattenDisease
Daily Mail
09-08-2025
- Health
- Daily Mail
Toddler given paracetamol for what doctors thought was fever is fighting for her life as it turns out be rare genetic illness - and only £500,000 treatment can slow its progress
A three-year-old girl who was given paracetamol for what doctors thought was a fever is fighting for her life as it turned out to be a rare and deadly genetic illness that can only be managed with a £500,000 treatment. Katie Hughes was rushed to hospital after having a terrifying seizure but doctors blamed the fit on a high temperature. Her parents Grant and Jessica Hughes were reportedly sent home with painkillers and told not to worry. Devastatingly the seizures continued and after her seventh attack her parents demanded an explanation, so the doctors ordered genetic tests despite no family history connected to her symptoms. Katie was diagnosed with CLN2 Batten Disease - a cruel, terminal brain disorder that will slowly rob her of her ability to walk, talk and see. Doctors have warned that she may not live past the age of eight to 12, meaning her parents could lose their daughter before she even reaches secondary school. Grant, said: 'I'd never even heard of [the disease] before. 'Jessica called me at work and told me to come home because the doctor wanted to give us the news together. 'I'm not a crying person but I was tearing up - we were in pieces. 'They told us what was going to happen in the future but they didn't straight away say she was going to die. I felt like they were skirting around it. 'I asked them outright what her life expectancy was and they told me it would be early childhood. 'It's devastating. It's hard to wrap your head around because she's normal - she's running around fine but all her skills will slowly go.' Unfortunately there is no cure for her illness but a £500,000 a year enzyme therapy can help slow the progress. The staggering therapy has to be given directly into the brain every two weeks through a permanent device. The NHS has a special deal in place for children who have already started the treatment or who can start it before the end of 2025, according to the NICE website. But new patients after that may not be able to get the treatment on the NHS at all, because health bosses say there's not enough long-term evidence it works and the price is too high for the NHS budget. Katie's parents are in a desperate race against time to try to get her onto the treatment before the deadline - or raise enough money to go private or even abroad if they have to. 'As a mother you're always there for your children and I'm expected to just sit down and slowly watch her deteriorate and go,' Jessica told NeedToKnow. 'It's just hard to see that because she's only three - she hasn't even lived her life yet. 'She's too young to understand what's happening to her.' Katie's symptoms first appeared in January this year. Despite their heartbreak, the brave parents are determined to stay strong for Katie and her big sister MacKenzie, age seven. Jessica added: 'Everything is on a timer now. 'We want to take her to theme parks and Disney World while she can still enjoy it. 'Even that's not simple - because she's epileptic we have to pay £100 for special glasses so she can cope with the flashing lights. 'We put on a brave face every day but secretly it's destroying. We have to be there for her - and for MacKenzie too.' Katie's loved ones have launched a fundraiser to help cover the sky-high treatment costs, specialist equipment and special days out. Grant added: 'We just want Katie to have the best days we can possibly give her.
Wales Online
09-08-2025
- Health
- Wales Online
Toddler was given paracetamol by doctors but she was already fighting for her life and now faces race against time
Toddler was given paracetamol by doctors but she was already fighting for her life and now faces race against time Katie Hughes faces a a looming NHS deadline for £500,000 treatment Sisters Katie and Mackenzie Hughes A little girl who was told to take paracetamol for a simple fever is now fighting for her life after doctors discovered she has a rare and deadly disease. Three-year-old Katie Hughes was rushed to hospital after suffering a terrifying seizure. Doctors blamed it on a high temperature and her parents Grant and Jessica Hughes were reportedly sent home with painkillers and told not to worry. But the fits kept coming and after Katie endured her seventh seizure, her parents demanded answers. On 14 July, with no family history to explain her symptoms, doctors ordered genetic tests that delivered crushing news. Katie has CLN2 Batten Disease – a cruel, terminal brain disorder that will slowly rob her of her ability to walk, talk and see. While there is no cure for Batten Disease, a special enzyme therapy can help slow its relentless progress but the treatment costs a staggering £500,000 a year per patient – and has to be given directly into the brain every two weeks through a permanent device. The NHS has a special deal in place for children who have already started treatment or who can start it before the end of 2025, according to the NICE website. But new patients after that might not be able to get it on the NHS at all, because health bosses say there's not enough long-term evidence it works and the price is too high for the NHS budget. Katie's parents are in a desperate race against time to try to get her onto the treatment before the deadline – or raise enough money to go private or even abroad if they have to. Katie and her dad Grant Hughes "As a mother you're always there for your children and I'm expected to just sit down and slowly watch her deteriorate and go," Jessica, 29, from Porth in Wales, said. "It's just hard to see that because she's only three – she hasn't even lived her life yet. She's too young to understand what's happening to her." Katie's symptoms first appeared in January this year. She had a brain scan in May that confirmed that she had epilepsy before she received her Batten diagnosis in July. Doctors have warned that she may not live past the age of eight to 12, meaning her parents could lose their daughter before she even reaches secondary school. Her family want to make precious memories while she's still able to enjoy them. Grant, said: "I'd never even heard of [the disease] before. "Jessica called me at work and told me to come home because the doctor wanted to give us the news together. I'm not a crying person but I was tearing up – we were in pieces. "They told us what was going to happen in the future but they didn't straight away say she was going to die. I felt like they were skirting around it. "I asked them outright what her life expectancy was and they told me it would be early childhood. It's devastating. It's hard to wrap your head around because she's normal – she's running around fine but all her skills will slowly go." Three-year-old Katie Hughes was rushed to hospital after suffering a terrifying seizure. Despite their heartbreak, the brave parents are determined to stay strong for Katie and her big sister MacKenzie, age seven. They hope to take Katie on dream trips so she can experience the magic before it's too late. Jessica said: "Everything is on a timer now. We want to take her to theme parks and Disney World while she can still enjoy it. "Even that's not simple – because she's epileptic we have to pay £100 for special glasses so she can cope with the flashing lights. "We put on a brave face every day but secretly it's destroying. We have to be there for her – and for MacKenzie too." Katie's loved ones have launched a fundraiser to help cover the sky-high treatment costs, specialist equipment and special days out. Grant added: "We just want Katie to have the best days we can possibly give her. She deserves to smile, to laugh and to feel loved every single day we have left." Article continues below You can donate to Katie's fundraiser here.
Yahoo
18-05-2025
- Health
- Yahoo
Mum's relief over 'brutally unfair' drug access
A Coventry mother is "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 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 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." NICE 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. Follow BBC Coventry & Warwickshire on BBC Sounds, Facebook, X and Instagram. Child with rare disease will still get vital drug Relief as treatment for rare condition is extended Mothers rally and urge action over access to drug National Institute for Health and Care Excellence
BBC News
18-05-2025
- Health
- BBC News
Coventry mum's relief over 'brutally unfair' drug access
A Coventry mother is "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 Phoebe 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 NHS England (NHSE) had come to a new agreement with its maker, BioMarin, regarding existing 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." NICE 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. Follow BBC Coventry & Warwickshire on BBC Sounds, Facebook, X and Instagram.
