A mother is expressing her deep concern that her five-year-old daughter, Beatrice, who has been diagnosed with Batten disease, could face rapid health deterioration if her access to a life-saving medication is removed. Beatrice was diagnosed with CLN2 type Batten disease, a rare and severe degenerative disorder that leads to seizures, blindness, dementia, and difficulty with mobility and speech. The only treatment available for this condition is Brineura, a drug that has significantly improved Beatrice’s quality of life and allowed her to attend school and engage in activities.
Beatrice’s mother, Anna, explained that the current treatment plan is vital for her daughter’s wellbeing, as the drug has enabled her to live more independently and comfortably despite the challenges posed by the disease. However, NHS access to Brineura is scheduled to end in May. While discussions about the drug’s continued availability are ongoing between NHS England and the drug’s manufacturer, BioMarin, Anna fears that without this treatment, Beatrice will deteriorate quickly.
Brineura is the only approved treatment for CLN2 Batten disease, and it works by restoring an enzyme activity that is missing due to a genetic mutation. This enzyme is crucial for removing harmful waste products from the brain, which helps slow the progression of the disease and its debilitating effects. Although it is not a cure, the medication has allowed Beatrice to maintain a certain quality of life, giving her the ability to remain “happy and chatty” with just a bit more support from her family.
The current cost of providing Brineura is £522,722 per year for each patient, which has raised concerns about the drug’s cost-effectiveness. As a result, NHS England is collecting data to assess whether it is both clinically and economically viable to continue providing the drug. This has left families like Beatrice’s anxiously waiting to see if the treatment will remain accessible.
For Beatrice’s family, the reality of her diagnosis is already devastating. Anna shared that living with a child suffering from a life-limiting illness is hard enough, but the potential removal of the only treatment available makes their situation even more difficult. Beatrice’s life expectancy is only around 10-12 years without treatment, and every birthday is a painful reminder of the limited time they have together.
Anna emphasized the heartbreaking nature of the situation, stating that there is no alternative treatment, and it all comes down to the financial aspect of healthcare. She questioned how much a child’s life is worth, considering the lack of other treatment options for the disease.
Beatrice’s case is not unique, as CLN2 Batten disease affects a small but significant number of children in the UK, with an estimated 30 to 50 cases. The ongoing debate surrounding the cost of Brineura highlights the difficult choices that families of children with rare and life-threatening diseases often face. For Anna, the priority is her daughter’s health, and she continues to hope that the necessary steps will be taken to ensure Beatrice can continue receiving the medication that has allowed her to enjoy a better quality of life.
As discussions continue, families like Beatrice’s are left to wait and hope for a resolution that will provide their children with the care they desperately need to combat this cruel disease.
