According to a story from Global News, Charleigh, the three year old daughter of Trevor Pollack and Jori Fales, was recently diagnosed with CLN2 Batten disease, which is a rare and ultimately fatal disorder affecting the nervous system. The diagnosis makes Charleigh the first person in British Columbia to be diagnosed with the disease and only the thirteenth known case in all of Canada. Now the parents are pushing for the province to approve the enzyme replacement therapy drug Brineura, which could help prolong their daughter’s life.
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 CLN genes. 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.
Getting Approval
Brineura has already been cleared for coverage in several other Canadian provinces. The issue is that getting a drug to be approved can take several months at the very least and Charleigh really needs the drug much more urgently. Every second without treatment means faster disease progression and ultimately a shorter lifespan. The approval of Brineura will be the responsibility of an independent review board that was formed explicitly for making decisions about rare disease therapies, which can often be very expensive.
The first sign that something was wrong was when Charleigh had a seizure several months ago. She also recently returned to the hospital to have a feeding tube implantation. For now, the family is stuck waiting; without access to Brineura, Charleigh’s future is dire and she will be lucky to live past age 12.
To support Charleigh and her family, click here.
