According to a story from Mirror Online, parents Gail and Matthew Rich were devastated when they heard the news that a critical treatment for Batten disease was rejected for coverage on the NHS in England. The couple’s two daughters Nicole and Jessica were both diagnosed with the rare disorder. The girls were briefly given the critical drug as part of a trial and both saw benefit from the treatment.
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 to Get Treated
The therapy was able to stabilize Nicole’s symptoms. She is seven years old. For Jessica, who is four years old, the treatment, called cerliponase alfa, was able to prevent her initial symptoms from appearing. However, they will need continuous access to the therapy to slow the progress of their disease, which could claim their lives and many of their sensory abilities by before they reach their teenage years. Gail has called the decision to reject the drug “a death sentence,” and she isn’t wrong.
Nicole has already lost her ability to speak or walk without assistance. The reasoning for the rejection of the drug was based on disagreements about price and concerns over the effect of the drug in the long term.
To make the situation more outrageous, the therapy was approved for the NHS in Wales. If the girls lived there, just three hours away, access would be nothing to worry about.
The Rich family are just one of several that were shocked by the decision to reject the drug. While the future remains uncertain, there is some hope that government officials will intervene to come to a workable arrangement. Labor MP Catherine McKinnel, who represents the Rich’s in Parliament, are calling for a meeting with the Health Secretary in order to solve the problem.
