Latest news with #childhooddementia
BBC News
16-05-2025
- Health
- BBC News
Swindon girl with Batten Disease will continue to get vital drug
A family has been told their child will continue to get access to a drug which she began taking as part of a trial, and is helping to keep her Addy Clarke, from Swindon, has Batten Disease - a rare degenerative disease that has no agreement has been reached that existing patients will continue to have the drug Brineura, which costs £500,000 per patient per year, via the it has not been recommended for future patients "due to its high price and the limited evidence of long-term effectiveness", said the National Institute for Health and Care Excellence (NICE). Addy's mother Hayley Clarke said she is "absolutely thrilled and relieved and so thankful" at the news but wants to get access to the drug for other children. "There's still another half a fight to go to get it secured for all children, future children most importantly," she said the family could have lost Addy by now, that she should be blind, but her eyesight has been preserved and she can still make herself of the main symptoms of Batten Disease is childhood dementia. "We're just so thankful for the time that this drug is giving us with her," said Hayley, who also told the BBC about her daughter's passions for lions and swimming."I think I'm still processing that it's a yes for our daughter," she added."[I'm] almost trying to be really guarded with hope because we've had too much shattered hope along the way."Hayley said the family has had a lot of support from people around them as well as local hospice charities and the council. The family went with other with members with Batten Disease to Westminster to ask for continued access to guidance from NICE did not recommend using it for future patients due to cost and long-term effectiveness, but said it had reached a deal with the NHS and manufacturer BioMarin for those already using it and anyone signed up by the end of 2025. Helen Knight, director of medicines evaluation at NICE said: "We know this is not entirely the news people in the Batten Disease community were hoping for. However, this is not the end of the story. We will continue to work with all parties towards a solution."The charity Batten Disease Family Association said it was pleased with the agreement, but said as the NICE guidance is a draft and not final, it will continue to push to make Brineura accessible to all children who need it.
BBC News
16-05-2025
- Health
- BBC News
Hull parents 'devastated' after girl, 5, gets dementia
A Hull family said they wanted to raise "as much awareness as we can" after a five-year-old girl was diagnosed with a rare form of childhood dementia. Stuart said the family was "absolutely devastated" when his daughter Tilly was diagnosed with MucoPolySaccharidosis (MPS3A) or Sanfilippo genetic condition affects the cells in the brain and has no and 12 family members are taking part in the Three Peaks challenge this weekend to raise money and awareness. Tilly's parents, Pam and Stuart, found they were both carriers of the gene that causes the life-limiting, progressive fatal disease which affects just one in 70,000 live births. "Now we are over the shock of what that means for our family long term, the only thing we can do is raise as much awareness as we can by sharing events like this and raise as much money as we can to support the MPS Society," Stuart said."By doing this challenge, we hope to raise awareness of Tilly's condition as it is still pretty much unknown in the UK and hopefully raise funds to help the MPS Society continue supporting people and families affected by MPS, through research, support services and raising awareness." Tilly is currently the only child in Hull with the condition and is being treated at the Royal Manchester Children's on Friday, the family will attempt to scale Yr Wyddfa (Snowdon), Scafell Pike and Ben Nevis in the shortest possible to highlights from Hull and East Yorkshire on BBC Sounds, watch the latest episode of Look North or tell us about a story you think we should be covering here.
