Latest news with #CLN2Batten
Indianapolis Star
25-05-2025
- Automotive
- Indianapolis Star
Helen's Pink Sky Foundation featured during Indy 500 broadcast. What to know
A fundraiser for a rare neurodegenerative disorder affecting a four-year-old girl with a connection to racing was highlighted during the 2025 Indianapolis 500. Helen's Pink Sky Foundation was featured in a commercial shown during the race broadcast on Fox. The foundation is named for a Minnesota girl, Helen Betty Born, and raises awareness and funds research to find a cure for CLN2 Batten disease, which affects two to four of 100,000 children in the United States. The disorder is inherited. Some children die in early childhood from the disease, while others may be able to live into their teens or twenties. Worldwide, about 14,000 children are known to have Batten disease. In recognition of Helen's fourth birthday on May 31, the foundation is calling for people to host pink lemonade stands May 30-June 1 and donate proceeds to Batten disease awareness. Helen, the daughter of two cybersecurity professionals, was diagnosed with the disease in March 2025, after showing symptoms that included slight speech delays, clumsiness, eye flutters, sudden falls and shaking and experiencing seizures. Her parents started the foundation to help fund research and find a cure for the disease. Meyer Shank Racing has pledged long-term support of Helen's Pink Sky Foundation, with its NTT IndyCar Series cars driven by Felix Rosenqvist and Marcus Armstrong carrying the foundation's decal in every race until a cure is found for Batten disease. Tim Meyer, Meyer Shank Racing's chief operating officer, is Helen's godfather and a foundation board member. 'We're going to tell Helen's story everywhere we race and do our part to help this amazing little girl,' Meyer said in a news release. 'Helen is so full of life and we just find her courage so inspiring. What she now faces is evil, it breaks my heart to see a child have to take on so much. We're going to fight like hell to help her and her family in any way we can.' According to the foundation website, Batten disease is a rare, genetically inherited disorder that belongs to a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (NCLs). NCLs are characterized by genetic mutations that disrupt cells' ability to dispose of waste, resulting in the abnormal accumulation of certain proteins and lipids (fats) within the nerve cells of the brain and other tissues of the body. This results in progressive neurological impairment, including developmental regression, seizures, blindness, behavior changes, and dementia. There are many forms of NCL. Mutations in at least eight different genes are known to cause Batten disease. Helen has been diagnosed with Late Infantile Batten disease (CLN2) caused by a deficiency of the enzyme TPP1, which is responsible for breaking down certain proteins in the lysosomes. The different variants of the disease are distinguishable from one another in part by the age at which symptoms appear. Symptoms can appear as early as six months and as late as 43 years old. Children affected by CLN2, like Helen, typically see symptoms between the ages two and four and include seizures, coordination challenges, progressive vision loss, and developmental regression. Although CLN2 can be treated with an enzyme replacement therapy called Brineura (BioMarin) that dramatically slows progression of the disease, there is no cure. Batten disease is inherited through an autosomal recessive trait. This means that the same abnormal gene for the same trait is inherited from both parents. Given the disease's rarity, it is often misdiagnosed initially as epilepsy or eye disease. The accumulation of common symptoms and, ultimately, a genetic test is the only way to get a definitive diagnosis.
Yahoo
16-05-2025
- Health
- Yahoo
Relief as treatment for rare condition is extended
A mother says she and her family can "live again" after access to her son's life-enhancing treatment for a rare genetic disorder was extended. NHS access to the drug Brineura, which slows the progress of Batten disease, was set to end this month but NICE and NHS England have now come to new agreement with the drug's maker. One of those who receives it is Isaac, eight, who has CLN2 Batten disease, which was diagnosed in August 2021. His mother Aimee Tilley, from Kettering in Northamptonshire, said: "We know it's not a cure, we still see regression, but it's a huge amount slower, so he's gaining years, not just days or weeks." Batten disease, a rare genetic disorder, causes a rapid decline in a child's ability to walk, talk and see, and is estimated to affect about 40 children in the UK - with an average life expectancy of about 10 years. Brineura is the only approved treatment that slows the condition's progress. The new agreement will mean those on the drug, and those who start the treatment before the end of the year, can receive it on a permanent basis. Ms Tilley said: "We are extremely relieved that Isaac is going to continue to have this treatment. "This black cloud that we've had hanging over us has gone. We feel like we can live again." NICE said it and NHS England would continue to work with BioMarin, which makes the drug, on "a solution to secure access to all future patients but at the moment the treatment is not considered cost effective". Ms Tilley says her family "will not stop fighting for the children of the future". She said: "They deserve it just as much as the children now and we have won this battle, but we will win the war." Ms Tilley said Isaac was "having seizures, losing his mobility, he can still walk with a walker or walk holding our hands [and] he has now gone blind". But, she added: "He's happy. He still enjoys theme parks, going horse riding and he still does a lot of things that children of his age can do we just have to adapt them for him." Helen Knight, director of medicines evaluation at NICE, said she was "pleased" an agreement had been reached. She added that NICE and NHS England remained "committed to working with the company to try to reach a long-term deal that will give access to [Brineura] to all eligible people" after December. Follow Northamptonshire news on BBC Sounds, Facebook, Instagram and X. Threat to son's treatment for rare disease 'agony' Mothers rally and urge action over access to drug NICE NHS England Batten Disease Family Association (BDFA)
Yahoo
16-05-2025
- Health
- Yahoo
Relief as treatment for rare condition is extended
A mother says she and her family can "live again" after access to her son's life-enhancing treatment for a rare genetic disorder was extended. NHS access to the drug Brineura, which slows the progress of Batten disease, was set to end this month but NICE and NHS England have now come to new agreement with the drug's maker. One of those who receives it is Isaac, eight, who has CLN2 Batten disease, which was diagnosed in August 2021. His mother Aimee Tilley, from Kettering in Northamptonshire, said: "We know it's not a cure, we still see regression, but it's a huge amount slower, so he's gaining years, not just days or weeks." Batten disease, a rare genetic disorder, causes a rapid decline in a child's ability to walk, talk and see, and is estimated to affect about 40 children in the UK - with an average life expectancy of about 10 years. Brineura is the only approved treatment that slows the condition's progress. The new agreement will mean those on the drug, and those who start the treatment before the end of the year, can receive it on a permanent basis. Ms Tilley said: "We are extremely relieved that Isaac is going to continue to have this treatment. "This black cloud that we've had hanging over us has gone. We feel like we can live again." NICE said it and NHS England would continue to work with BioMarin, which makes the drug, on "a solution to secure access to all future patients but at the moment the treatment is not considered cost effective". Ms Tilley says her family "will not stop fighting for the children of the future". She said: "They deserve it just as much as the children now and we have won this battle, but we will win the war." Ms Tilley said Isaac was "having seizures, losing his mobility, he can still walk with a walker or walk holding our hands [and] he has now gone blind". But, she added: "He's happy. He still enjoys theme parks, going horse riding and he still does a lot of things that children of his age can do we just have to adapt them for him." Helen Knight, director of medicines evaluation at NICE, said she was "pleased" an agreement had been reached. She added that NICE and NHS England remained "committed to working with the company to try to reach a long-term deal that will give access to [Brineura] to all eligible people" after December. Follow Northamptonshire news on BBC Sounds, Facebook, Instagram and X. Threat to son's treatment for rare disease 'agony' Mothers rally and urge action over access to drug NICE NHS England Batten Disease Family Association (BDFA)
BBC News
13-03-2025
- Health
- BBC News
Kettering mother fears son's treatment for Batten disease may end
A mother has spoken about her "painful" experience over the potential end to her son's life-enhancing treatment for a rare genetic disorder. Aimee Tilley, from Kettering in Northamptonshire, was participating in a rally in Westminster on Wednesday after being told NHS access to the drug Brineura, which slows the progress of Batten disease, was set to end in son, Isaac, eight, had CLN2 Batten disease diagnosed in August 2021. It is an incurable condition which causes childhood dementia, epilepsy and loss of Tilley said: "It is agonising. We face enough difficulties with our children as it is. The fact we've got this black cloud hanging over us... you almost can't put it into words, it's painful. We shouldn't have to be doing this." Batten disease causes a rapid decline in a child's ability to walk, talk and see, and is estimated to affect about 40 children in the UK - with an average life expectancy of about 10 is the only approved treatment that slows the condition's officials claim "constructive" talks are being held with the drug's manufacturer over continued access to starting Brineura treatment, Isaac has experienced significant improvements in his quality of life, engaging in activities such as horse riding, swimming, and skating. 'Never stop fighting' Ms Tilley added that during the rally she had met her local MP, Rosie Wrighting, who pledged to support the families' Wrighting said: "It was amazing to meet Aimee, Isaac and family in Parliament yesterday, and hear about the campaign for children with Batten disease."I was really touched by the strength they have shown in campaigning for Isaac and other children across the UK."I also met with other MPs, parent experts and campaigners, and will work with them and continue following closely any updates from NICE [National Institute for Health and Care Excellence]."Ms Tilley added: "These children have skills. [Brineura] gives them the quality of life that they deserve. It's given them years of quality life they would never have had.""We will never ever stop fighting. [The government should] back us and do the right thing." Follow Northamptonshire news on BBC Sounds, Facebook, Instagram and X.
Yahoo
12-03-2025
- Health
- Yahoo
Mothers rally and urge action over access to drug
The mother of a six-year-old girl with a rare neurodegenerative disease has urged health bosses to "do the right thing" amid fears over the future of the medication she takes. Flory, from Coventry, has CLN2 Batten disease, an incurable genetic disorder and Brineura is the only approved treatment that slows the condition's progress. Dozens of campaigners were in Westminster on Wednesday after being told NHS access to the drug was set to end in May. Health officials claim "constructive" talks are being held over continued access to it but Flory's mother, Phoebe, said: "We absolutely cannot let this drug be taken away." "We need to do the right thing here, there are 40 children who are dependant on this treatment to survive, to live, for a quality of life." The disease causes a rapid decline in a child's ability to walk, talk and see and is estimated to affect about 40 children in the UK with an average life expectancy of about 10 years. Getting Brineura on the NHS had been "absolutely monumental" for Flory, according to Phoebe, who added she was still walking, climbing and eating due to the drug. Another parent, Anna, from Doncaster, was also at the rally and said removing the medicine would be "absolutely devastating" for her five-year-old daughter Beatrice, known as Bee. "She would decline rapidly and we need Brineura to keep her being Bee and doing all the loving life at the minute. She deserves a chance," she said. Anna told the BBC her daughter had an infusion of the drug every fortnight which "keeps her on her feet and talking". "She's reading books, she's swapping them at school so her life is the same as the other kids in the class," she said. "Knowing that this be just ripped anguish we are living in is absolutely heartbreaking." A fortnightly 300mg dose of Brineura costs £522,722 for each patient every year, according to the National Institute for Health and Care Excellence (NICE). An agreement on access to the drug between NHS England and manufacturer BioMarin is set to expire in May but NICE said "constructive" discussions over permanent access to the drug continued. Wednesday's rally in Westminster was backed by the Batten Disease Family Association and a supporter of the charity, the former England cricket captain Lord Botham, took part. He said he hoped the government would keep the treatment going to allow children with the disease a "much better life". "It's not curing, the research into it needs to be expanded and moved on because it is a brutal disease," he told BBC Radio WM. Follow BBC Coventry & Warwickshire on BBC Sounds, Facebook, X and Instagram. Heartbreak at 'family-destroying' disease of girl, 11 Family's 'excruciating' wait over drug decision 'This disease is one of the worst in the world' Mum fears daughter's rapid deterioration without drug Parents' fears over loss of Batten disease drug National Institute for Health and Care Excellence Batten Disease Family Association
