Parents of children with CLN2 Batten disease face frantic uncertainty as they risk losing access to Brineura, the only approved treatment for this rare neurodegenerative disorder.
The stakes are high. The Managed Access Agreement (MMA) for the drug is set to expire on May 27, 2024, triggering fears among families about whether their children will continue receiving the medication known to slow the disease's cruel progression.
CLN2 Batten disease is characterized by severe decline, stripping children of abilities to walk, talk, and see. Phoebe, mother of six-year-old Flory, says the fortnightly doses of Brineura are "keeping her alive." She expressed her disbelief, stating, "If [it is unavailable], are our children going to be left to die? It's unfathomable this is the situation."
According to the National Institute for Health and Care Excellence (NICE), approximately 40 children are affected by this incurable condition across the UK, with the average life expectancy around 10 years.
Each year, the cost of Brineura treatment reaches about £522,722 per patient. The treatment is seen as groundbreaking, reducing patients' decline by 80%, but pricing has led to significant discussions about whether it will continue to be funded by the NHS.
“Our treatment is life-changing,” Lucy Carroll, mother of Ollie, said. Ollie suffers from the same disease, and the anticipated expiration of the funding agreement terrifies Lucy, who described the situation as akin to being forced to prove her child’s worth. "It’s hard because you’re being asked questions about your child’s quality of life," she shared, illustrating how the assessments feel like judgments being passed on their life quality rather than genuine care for their wellbeing.
Both Lucy and Mike Carroll have fought fiercely for Ollie and others like him. Their previous battle against NICE’s refusals to fund the drug involved taking the case to the Supreme Court, after which the Managed Access Agreement was initially secured. "The worry is... they’ll try to cut costs by taking some children off the treatment," Lucy said, worried about discrimination against children who aren't able to communicate or move.
Communication isn’t lost, argued Lucy; her son Ollie still expresses his needs and feelings, something she feels needs to be recognized by NHS decision-makers. "He tells us whether he’s happy or sad—Ollie has the ability to communicate those wants to us," she remarked, asserting the need for all disabilities and abilities to be properly considered.
While families like the Carrolls continue to navigate this tragedy, the decision weighs on NHS England, which must balance clinical effectiveness with financial constraints—a complicated equation when involving life-sustaining treatments.
The Batten Disease Family Association (BDFA) echoed the sentiments of many parents, emphasizing the emotional distress brought on by the possible funding cuts. Chief Executive Liz Brownnutt remarked, "There should not be a price on a child's life... these children deserve the right to a good quality of life and more time with their families."
For children like Flory and Ollie, the stakes are enormous: without continued access to Brineura, their families fear permanent and debilitating deterioration to the extent of losing life altogether. Empowered by the hope of discussions and talks still open between NICE, NHS England, and BioMarin, the drug manufacturer, families await clarity.
The special drop-in event for MPs exemplifies the proactive stance families are taking to be heard. Organized to raise awareness of the plight, it will feature families gathering outside Parliament, hoping to see their struggle and their children's stories echoed by decision-makers paving the way for continued or improved access to life-saving treatment.
Phillip, another child affected, reminds us the need for such advocacy. "They don’t want to hear about my quality of life, but I deserve to live and be able to do things too," he communicated through his mother, articulately voicing the sentiment of many.
Across the UK, families are united with one message: the consequences of denying treatments like Brineura transcend finances, entering the realms of moral obligation to these resilient children, whose current abilities challenge societal perceptions of worth.
The future of these children hinges on forthcoming decisions—families confident they will not sit idly by. The stories, struggles, and voices are loud reminders of why advocacy is not just needed but necessary.
Hope persists among families, teetering on this precarious ledge of uncertainty. They continue to advocate, to push for what they believe is not just their right but the right of their children to enjoy every precious moment with their families—together and alive.