A desperate Vancouver Island family is asking the province to approve a drug that could save their daughter’s life.
Jori Fales and Trevor Pollack’s daughter Charleigh was diagnosed three weeks ago with CLN2 Batten Disease, an extremely rare, fatal genetic disorder. The three-year-old is the first British Columbian and just the 13th Canadian to be diagnosed with the disease.
“It’s heartbreaking. There is really no worse news a parent could hear, that your child is going to die. It’s hard to even put words on it,” Fales said.
What adds to the heartbreak is that there is a drug that would help extend Charleigh’s life, but is not covered in British Columbia.
The enzyme replacement gene therapy called Brineura is currently covered by other Canadian provinces.
“We are hoping we will receive access to this live-saving drug for our daughter. The frustration is that it is available in other provinces and not our own. She needs this drug to stay alive,” Fales said.
“She needs it now. Immediately. Not the time it takes for a normal process that could take six months, a year. Charleigh doesn’t have that time.”
British Columbia has an independent review board that makes decisions on drugs for rare diseases. The drug costs around $1 million a year.
“This case is before an independent drug review committee (Expensive Drug Rare Diseases). Decisions made by the committee are communicated through the physician specialist who makes that application on behalf of the patient,” the Ministry of Health said in a statement.
Charleigh was back in hospital on Thursday to have a feeding tube surgically implanted. She first showed signs of the rare disease when she had a seizure eight months ago.
“Our family had no idea the devastation that would follow from that first scare. Quickly our lives became centered around ambulance rides, hospital stays, medication trials, Neurology specialists, sleep deprivation and constant worry,” the couple wrote on a GoFundMe page.
“Genetic testing was performed on Charleigh and waiting for the results was excruciating.”
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At the end of May, Charleigh was diagnosed with CLN2 Batten Disease. There are fewer than 500 cases worldwide.
Children with the rare disease develop normally for the first few years of life. Then, as the disease progresses, the child will become blind while also losing the ability to walk, talk and swallow.
Without medication, by age six they become completely dependent on a caregiver as they are bedridden. Most children will die between six to 12 years old.
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Brineura has been shown to help slow down rapid deterioration in children with the same disease. The treatment is very new, but clinical trials have shown promising results. The drug is administered bi-weekly through a portal, straight into the brain.
“The sooner we can get this treatment, the sooner we can get our daughter at a level plain of life,” Pollock said.