Latest news with #CLN2
Global News
19 hours ago
- Health
- Global News
Charleigh's case: Disease experts ‘strongly oppose' move to cut rare drug funding
A group of experts on Batten disease in the United States has penned a letter to B.C.'s health minister and premier, strongly opposing the decision to withdraw funding for 10-year-old Charleigh Pollock. The letter is signed by the Clinical Directors from the U.S. Batten Disease Clinical Centers of Excellence and Batten Disease Clinical Research Consortium and asks the B.C. government to review the current discontinuation criteria. Pollock has a neurological disorder called Batten disease that leaves her with recurring severe seizures and mobility loss, and will eventually cut her young life short. On June 18, Charleigh's family was informed that government funding of a drug called Brineura, which her family said has stabilized her condition and radically improved her quality of life since her 2019 diagnosis. The drug is expensive, carrying an annual bill for the twice-monthly infusions of about $1 million. Story continues below advertisement Charleigh's family appealed to the B.C. Ministry of Health to reverse the decision and consider more research and speak to more experts. However, the decision was not reversed. 2:00 Review of Charleigh Pollock's case finished The doctors and researchers who wrote the letter say their international colleagues and collaborators Angela Schulz MD and Miriam Nickel MD in Germany were instrumental in developing the clinical outcome measures used to track disease progression in CLN2 disease, which is a type of Batten disease. Get weekly health news Receive the latest medical news and health information delivered to you every Sunday. Sign up for weekly health newsletter Sign Up By providing your email address, you have read and agree to Global News' Terms and Conditions and Privacy Policy 'Drawing from our collective and unparalleled expertise in CLN2 disease, we strongly oppose the decision to withdraw funding for life-sustaining ERT from Charleigh Pollock and call for a review of the current discontinuation criteria,' the letter reads. Prior to 2017, the late-infantile form of CLN2 disease was universally fatal, however, the introduction of intracerebroventricular ERT, which is the medication Pollock was given, 'fundamentally altered the disease trajectory.' Story continues below advertisement The experts said the treatment 'has demonstrably prolonged survival, slowed progression, improved seizure control, and enhanced quality of life.' The B.C. government has always maintained that the decision to stop funding Charliegh's medication was never about money but a panel of experts decided the drug was not helping Charleigh anymore. 'This is a really awful case,' B.C. Premier David Eby said on Thursday. 'This is a beautiful child and a family facing a horrific diagnosis. Medical experts are disagreeing about the best course of action. 'We received a letter this morning from slightly more than a dozen experts in Batten disease from the United States who wrote to the (health) minister and I expressing that their perspective on this medication is that it would continue to provide benefit for patients, including for Charleigh, that are at the stage that she's at.' Eby said Health Minister Josie Osborne will likely have more to say on the matter on Friday. 2:15 Langford mom devastated after province pulls funding for daughter's expensive drug The letter from experts said they are concerned by the clinical and scientific justification used by B.C.'s ministry of health to terminate treatment for Charleigh. Story continues below advertisement Andrew McFadyen, executive director of the Issac Foundation in Toronto, which is a patient advocacy organization dedicated to supporting individuals living with rare diseases, was one of the experts who signed the letter to Eby and Osborne. He said they provided the same information to Osborne when they met with her a few weeks ago and he was appalled the government stopped funding the drug in the first place. 'So while this may not be overly new information, I think the idea that every single Batten disease expert in the world has signed on to say, we're unified, we agree, we're imploring you to change this decision, but we're also imploring you to look at developing new criteria so that this situation doesn't have to take place for other children across the country, but also around the world, like it did here now,' McFayden added.
Vancouver Sun
06-07-2025
- 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@
CBC
20-06-2025
- Health
- CBC
Vancouver Island family heartbroken as B.C. stops funding $1M drug for girl with terminal condition
A Vancouver Island family is in shock after learning the British Columbia government will stop funding an extremely expensive medication their young daughter needs for a rare genetic condition. Nine-year-old Charleigh Pollock is the only person in B.C. with Batten disease, or neuronal ceroid lipofuscinosis type 2 (CLN2). It's a rare and terminal genetic disorder that causes multiple seizures daily, eventually causing brain damage. Pollock's mother, Jori Fales, said the family is still processing the news, announced Wednesday, that the B.C. government will pull funding for Pollock's access to Brineura, a $1-million-per-year medication which is given through an infusion of fluid to the brain to slow the progression of CLN2. "Emotions have gone from sheer heartbreak to anger to sadness; it's just been a roller-coaster the last 24 hours," Fales said. Thursday marked Pollock's last infusion of Brineura. Fales called the government's decision to pull funding with one day's notice before the last infusion "a little heartless." She said her daughter has been let down. "At the end of the day, it should have always been the decision of her medical care team, and her family and Charleigh. And none of that has happened here." On Thursday, B.C. Minister of Health Josie Osborne said it was a tough decision to end the funding. She said the cost of the medication had nothing to do with the reason the funding was pulled, but that it was determined Pollock's condition had deteriorated to the point where she met "discontinuation criteria" for Brineura. "Clinical evidence shows that once a patient has declined in their motor and language functions by a certain amount, Brineura no longer has the benefit of slowing down the progression of the disease, although patients can continue to live on into mid-adolescence," Osborne said. Fales denied that her daughter's condition has worsened. "Charleigh is not in advanced progression of her disease. This is simply not true," she said. Dr. Ineka Whiteman, the head of research and medical affairs for the Batten Disease Support and Research Association U.S. and Australia and head of the Batten Disease Global Research Initiative, called the B.C. government's decision "appalling." She expressed frustration with the provincial government's emphasis on criteria to discontinue the medicine, which she said is based on old clinical trials. She added other families around the world are becoming concerned their access to the medication may also be reconsidered. "This is not just about a single child. This is really setting a very, very dangerous precedent." Fales said she plans to share her daughter's journey and advocate for others dealing with the disease.
Vancouver Sun
18-06-2025
- Health
- Vancouver Sun
Drug coverage to be discontinued for Vancouver Island girl with fatal condition
Coverage of an expensive drug for a nine-year-old Langford girl with a rare fatal condition is being discontinued, B.C.'s Health Ministry says. Charleigh Pollock, who has a neurodegenerative condition known as Batten disease, will have her last publicly funded infusion of the drug Brineura on Thursday. The drug, which costs about $1 million a year, is intended to slow — but not stop — the decline in patients' ability to walk and talk until they reach the end stage of the disease. Health Minister Jose Osborne said Wednesday that Canada's Drug Agency has completed its review and there is no new evidence to change its 2019 recommendation to discontinue coverage of the drug, given the advanced stage of Charleigh's condition. 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. Osborne said the case has been one of the most difficult for her and her team during her time as minister. 'We all share the desire to do everything we can to care for this young girl,' she said. 'I empathize deeply with Charleigh's family and my heart goes out to them.' Reached by the Times Colonist on Wednesday, mother Jori Fales said she was still processing the news and unable to speak about the decision, which comes in the wake of a previously announced extension of coverage to June 28. Fales has said that two weeks after discontinuation of the drug, Charleigh likely faces 'rapid deterioration, irreversible loss of function and ultimately death.' 'I just need to process this for today,' she said. Charleigh's parents earlier said their daughter had seen benefits from bi-weekly treatments with Brineura, the only drug approved to treat the form of the disease that Charleigh has, known as ceroid lipofuscinosis type 2 (CLN2). Charleigh has been taking the drug for almost six years, and her family has said that as a result, she no longer has multiple seizures a day. Osborne noted that the drug is not an anti-seizure medication, adding there are other drugs to control seizures for patients with CLN2. Charleigh is the only child in B.C. and one of fewer than 20 in Canada with Batten disease, which began to affect her at the age of three, when she suffered seizures and began to lose her ability to walk and talk. The family was informed in January that the Canadian Drug Expert Committee had recommended ending the funding, and that Charleigh's last publicly funded infusion would be Feb. 27. The committee, made up of drug experts as well as lay members appointed by Canada's Drug Agency, makes reimbursement recommendations to participating federal, provincial and territorial publicly funded drug plans. The Health Ministry had said in a statement that while all provinces had adopted the national discontinuation criteria set out by Canada's Drug Agency, 'this disease is so rare that Charleigh is the first Canadian patient to reach the Canada Drug Agency's criteria for discontinuing Brineura coverage.' After the family's story went public, Osborne directed ministry staff to 'urgently review all of the facts' and determine whether the treatment had quality-of-life benefits for Charleigh. Given the extraordinary circumstances, 'we wanted to ensure no stone was left unturned,' Osborne said Wednesday. B.C. covers about 30 drugs under the Expensive Drugs for Rare Disease program. The cost of an individual drug is not a factor considered by the expert committees in recommending coverage, the Health Ministry says. Since the Expensive Drugs for Rare Diseases review process was established in 2007, the ministry has never provided ongoing coverage for a drug against the recommendations of clinical experts and criteria established by Canada's Drug Agency, a ministry statement said. Courtenay-Comox MLA Brennan Day, the B.C. Conservative critic for rural and seniors health, urged the province to reverse the decision on compassionate grounds. 'I can't imagine the emotions the family is feeling,' said Day. ceharnett@
CBC
18-06-2025
- Health
- CBC
B.C. pulls funding on $1M drug for 9-year-old Vancouver Island girl with rare condition
The B.C. government said Wednesday it will be pulling funding for an extremely expensive drug used by one person in the province — a young Vancouver Island girl. Charleigh Pollock, 9, suffers from neuronal ceroid lipofuscinosis type 2, also known as CLN2 or Batten disease, a rare and terminal genetic disorder that causes multiple seizures every day, eventually causing brain damage. Pollock's name became known in 2019 when the province announced it would be covering the cost of a $1 million-per-year medication for her known as Brineura, which is given through an infusion of fluid to the brain to slow the progression of CLN2. Pollock is the only person in B.C. with the disease, which has no cure. "Expensive drugs for rare diseases add a layer of complexity to decision-making," Health Minister Josie Osborne said in a statement on Wednesday. However, she said, the cost of the medication has nothing to do with the recommendations made by medical experts that made this decision to stop coverage. Funding for the drug was approved when Pollock was three years old. Osborne said once a patient has declined in their motor and language functions by a certain amount, Brineura no longer slows the progression of CLN2. "Last year, it was determined that Charleigh's condition had progressed to the point where she met the discontinuation criteria for Brineura," she said. From there, she said the ministry undertook a review of the situation. The province said the decision to cover drugs for patients that fall under B.C.'s Expensive Drugs for Rare Diseases program are made based on recommendations from a committee of independent experts that use clinical criteria from by Canada's Drug Agency. "I know this is not what Charleigh's family wanted to hear. It's not what any of us wanted to hear," Osborne said. In a Facebook post made on June 13 prior to the decision being made, Pollock's mother Jori Fales said that after reading the Drug Agency's report, she couldn't see how the B.C. government would choose to stop coverage. She said Pollock's medical team feels continuing the medication is in her best interest. "Anything less is simply cruel and wrong," she wrote.
