According to a story from Express Digest, Lucy and Mike Carroll don’t know for how much longer their children will be able to live happy lives. This is because their daughter Amelia, aged six, and son Oliver, aged eight, have Batten disease. This progressive, neurodegenerative disorder is ultimately lethal without treatment. Currently, the two kids are being treated with an enzyme replacement therapy called cerliponase alfa, but this is only as part of a trial and the drug maker BioMarin has made it clear that it can’t supply the kids for as long as they will need it.
About Batten Disease
Batten disease is a nervous system disorder that tends to appear between the ages of five and ten years. This neurodegenerative disease is caused by mutations which affect the CLN3 gene. Girls tend to display symptoms later than boys, but their disease tends to progress more rapidly. Diagnosis is often difficult. Symptoms include seizures, vision problems, repetitive speech, learning regression or delays, scoliosis, decreased muscle and body fat, changes to personality and behavior, poor coordination, and speech loss. Symptoms generally progress over time. There is only one drug for Batten disease that can slow progression, but it is only effective in certain cases. Most treatment is supportive, and the disease is ultimately lethal. There is a dire need for more effective therapies to improve survival times and outcomes for patients with Batten disease. To learn more about Batten disease, click here.
Struggling for Treatment Access
As residents of the UK, the family was crushed when they heard that the National Institute for Health and Care Excellence (NICE) had not recommended that the critical drug be covered under the NHS. The decision was allegedly due to concerns about the cost-effectiveness of the cerliponase alfa, but the family and other patient advocates don’t believe that a thorough analysis was conducted to draw this conclusion.
If NICE had any concerns about the effectiveness of the drug, then Amelia and Oliver are living proof that it works. Amelia got the treatment early and it has allowed her to develop relatively normally. Unfortunately, Oliver had already been robbed of his speaking and walking ability before getting the drug. However, neither of them have seen much worsening of symptoms since they began treatment.
Public law experts from Irwin Mitchell, who represent the family, are taking steps to gets a judicial review of the decision to reject the drug for coverage.
