Latest news with #CLN2Batten
The Province
6 days ago
- Health
- The Province
‘Every day matters': B.C. stands by decision to cut drug funding for child with terminal brain disease
Despite a personal plea from family, Health Minister Josie Osborne has upheld the province's decision to stop funding Brineura for nine-year-old Charleigh Pollock. Jori Fales with daughter Charleigh Pollock, 9. Charleigh has a rare, progressive, and fatal neurodegenerative disorder known as Batten disease,. Photo by Jori Fales A Vancouver Island mother says she's heartbroken after the B.C. government refused to reinstate funding for the only drug that has helped her nine-year-old daughter survive a rare and fatal brain disorder. This advertisement has not loaded yet, but your article continues below. THIS CONTENT IS RESERVED FOR SUBSCRIBERS ONLY Subscribe now to read the latest news in your city and across Canada. Exclusive articles by top sports columnists Patrick Johnston, Ben Kuzma, J.J. Abrams and others. Plus, Canucks Report, Sports and Headline News newsletters and events. Unlimited online access to The Province and 15 news sites with one account. The Province ePaper, an electronic replica of the print edition to view on any device, share and comment on. Daily puzzles and comics, including the New York Times Crossword. Support local journalism. SUBSCRIBE TO UNLOCK MORE ARTICLES Subscribe now to read the latest news in your city and across Canada. Exclusive articles by top sports columnists Patrick Johnston, Ben Kuzma, J.J. Abrams and others. Plus, Canucks Report, Sports and Headline News newsletters and events. Unlimited online access to The Province and 15 news sites with one account. The Province ePaper, an electronic replica of the print edition to view on any device, share and comment on. Daily puzzles and comics, including the New York Times Crossword. Support local journalism. REGISTER / SIGN IN TO UNLOCK MORE ARTICLES Create an account or sign in to continue with your reading experience. Access articles from across Canada with one account. Share your thoughts and join the conversation in the comments. Enjoy additional articles per month. Get email updates from your favourite authors. THIS ARTICLE IS FREE TO READ REGISTER TO UNLOCK. Create an account or sign in to continue with your reading experience. Access articles from across Canada with one account Share your thoughts and join the conversation in the comments Enjoy additional articles per month Get email updates from your favourite authors On Friday, Jori Fales met with Health Minister Josie Osborne in Victoria, hoping to reverse the province's recent decision to cut off coverage of Brineura, a drug that can cost up to $1 million a year. Despite presenting new expert data about her daughter Charleigh Pollock's condition, Fales said Osborne refused to budge. 'I still have hope that they will change their mind,' Fales told Postmedia on Saturday. 'But if the physical decline begins in Charleigh, it's irreversible. And the decline can be very rapid. It's why every day matters.' Charleigh is the only person in B.C. diagnosed with CLN2 Batten disease, a rare genetic neurodegenerative disorder that progressively robs children of their ability to see, speak, walk, and eventually swallow. Essential reading for hockey fans who eat, sleep, Canucks, repeat. By signing up you consent to receive the above newsletter from Postmedia Network Inc. Please try again This advertisement has not loaded yet, but your article continues below. Diagnosed at age three, the disease has already taken away Charleigh's ability to speak and walk, but the nine-year-old's parents and doctors say Brineura has slowed its progression and improved her quality of life. Brineura helps replace an enzyme that patients with CLN2 lack. The drug, administered every two weeks through a brain infusion, is the only available treatment to slow the decline, though it is not a cure. Last month, the province halted Charleigh's coverage after a panel of independent experts from Canada's Drug Agency determined the drug was no longer effective in extending her life. Coverage ended just before Charleigh's last scheduled dose. Osborne previously said the government's decision was based on clinical evidence, not cost. This advertisement has not loaded yet, but your article continues below. 'I know this is not what Charleigh's family wanted to hear. It's not what any of us wanted to hear,' the minister said at the time. However, Fales and Charleigh's medical team strongly disagree. Attending Friday's meeting alongside Fales were Dr. Ineka Whiteman, a neuroscientist and head researcher with the Batten Disease Support and Research Association; and Lori Brown, president of the Canadian Batten Disease Support and Research Association. Fales said the group shared expert data with Osborne that they believe was missing from the Drug Agency's review, including criticism of the outdated scoring system used to evaluate Brineura's effectiveness. They argued it failed to capture key aspects of Charleigh's condition. This advertisement has not loaded yet, but your article continues below. They highlighted the work of Dr. Angela Shultz, a CLN2 specialist who developed the original scoring system and has since created a more sensitive tool to assess how children respond to treatment. Fales said this updated tool was provided to Osborne. They also explained to Osborne that the issue isn't just Charleigh's clinical scores, but what those scores miss — the current system overlooks quality of life and disease stability. 'We shared everything we could with Minister Osborne,' Fales told Postmedia Saturday. Brineura, they said, is still helping reduce Charleigh's seizures and manage other symptoms. Cutting off treatment, even temporarily, could trigger rapid and irreversible deterioration, they argued, pointing to clinical evidence now shared with Osborne. This advertisement has not loaded yet, but your article continues below. 'The minister committed to sending all of this information to the expert committee so they have it to consider when thinking about Charleigh and her case,' the mother wrote on Facebook after the meeting. 'We're confident that if they do this, Charleigh will be able to stay on the drug that's been keeping her alive.' Whiteman, who travelled from New Zealand for the meeting, told Postmedia there's no clear evidence to support a fixed cutoff point for Brineura treatment. She said health care decisions should rest with the child's treating physicians, not a bureaucratic panel. 'According to the clinical experts, who are Charleigh's own treating team, she's still benefiting.' The neuroscientist said global experts also agree that Charleigh is still benefiting from Brineura and should stay on the drug. This advertisement has not loaded yet, but your article continues below. Whiteman also noted that Canada's Drug Agency's report acknowledged that ' evidence is limited regarding advanced disease and when to stop (Brineura) treatment.' For now, Charleigh's future remains uncertain. She missed her scheduled dose this week — a gap her family fears could mark the beginning of a steep decline. 'She's still here. She's still fighting,' her mother said. 'But without Brineura, I'm so scared about what will happen next.' — With files from Alec Lazenby sgrochowski@ Read More World Real Estate Sports Opinion News
Vancouver Sun
6 days ago
- Health
- Vancouver Sun
‘Every day matters': B.C. stands by decision to cut drug funding for child with terminal brain disease
A Vancouver Island mother says she's heartbroken after the B.C. government refused to reinstate funding for the only drug that has helped her nine-year-old daughter survive a rare and fatal brain disorder. On Friday, Jori Fales met with Health Minister Josie Osborne in Victoria, hoping to reverse the province's recent decision to cut off coverage of Brineura, a drug that can cost up to $1 million a year. Despite presenting new expert data about her daughter Charleigh Pollock's condition, Fales said Osborne refused to budge. 'I still have hope that they will change their mind,' Fales told Postmedia on Saturday. Start your day with a roundup of B.C.-focused news and opinion. By signing up you consent to receive the above newsletter from Postmedia Network Inc. A welcome email is on its way. If you don't see it, please check your junk folder. The next issue of Sunrise will soon be in your inbox. Please try again Interested in more newsletters? Browse here. 'But if the physical decline begins in Charleigh, it's irreversible. And the decline can be very rapid. It's why every day matters.' Charleigh is the only person in B.C. diagnosed with CLN2 Batten disease, a rare genetic neurodegenerative disorder that progressively robs children of their ability to see, speak, walk, and eventually swallow. Diagnosed at age three, the disease has already taken away Charleigh's ability to speak and walk, but the nine-year-old's parents and doctors say Brineura has slowed its progression and improved her quality of life. Brineura helps replace an enzyme that patients with CLN2 lack. The drug, administered every two weeks through a brain infusion, is the only available treatment to slow the decline, though it is not a cure. Last month, the province halted Charleigh's coverage after a panel of independent experts from Canada's Drug Agency determined the drug was no longer effective in extending her life. Coverage ended just before Charleigh's last scheduled dose. Osborne previously said the government's decision was based on clinical evidence, not cost. 'I know this is not what Charleigh's family wanted to hear. It's not what any of us wanted to hear,' the minister said at the time. However, Fales and Charleigh's medical team strongly disagree. Attending Friday's meeting alongside Fales were Dr. Ineka Whiteman, a neuroscientist and head researcher with the Batten Disease Support and Research Association; and Lori Brown, president of the Canadian Batten Disease Support and Research Association. Fales said the group shared expert data with Osborne that they believe was missing from the Drug Agency's review, including criticism of the outdated scoring system used to evaluate Brineura's effectiveness. They argued it failed to capture key aspects of Charleigh's condition. They highlighted the work of Dr. Angela Shultz, a CLN2 specialist who developed the original scoring system and has since created a more sensitive tool to assess how children respond to treatment. Fales said this updated tool was provided to Osborne. They also explained to Osborne that the issue isn't just Charleigh's clinical scores, but what those scores miss — the current system overlooks quality of life and disease stability. 'We shared everything we could with Minister Osborne,' Fales told Postmedia Saturday. Brineura, they said, is still helping reduce Charleigh's seizures and manage other symptoms. Cutting off treatment, even temporarily, could trigger rapid and irreversible deterioration, they argued, pointing to clinical evidence now shared with Osborne. 'The minister committed to sending all of this information to the expert committee so they have it to consider when thinking about Charleigh and her case,' the mother wrote on Facebook after the meeting. 'We're confident that if they do this, Charleigh will be able to stay on the drug that's been keeping her alive.' Whiteman, who travelled from New Zealand for the meeting, told Postmedia there's no clear evidence to support a fixed cutoff point for Brineura treatment. She said health care decisions should rest with the child's treating physicians, not a bureaucratic panel. 'According to the clinical experts, who are Charleigh's own treating team, she's still benefiting.' The neuroscientist said global experts also agree that Charleigh is still benefiting from Brineura and should stay on the drug. Whiteman also noted that Canada's Drug Agency's report acknowledged that ' evidence is limited regarding advanced disease and when to stop (Brineura) treatment.' For now, Charleigh's future remains uncertain. She missed her scheduled dose this week — a gap her family fears could mark the beginning of a steep decline. 'She's still here. She's still fighting,' her mother said. 'But without Brineura, I'm so scared about what will happen next.' — With files from Alec Lazenby sgrochowski@
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)
