The world of Lake Cowichan’s Jori and Trevor Fales turned upside down on May 22.
That’s the day they received the diagnosis that their three-year-old daughter Charleigh has CLN2 Batten disease, an extremely rare fatal genetic disorder.
Charleigh is the only child in British Columbia diagnosed with the disease, with just 11 in Canada and less than 500 cases worldwide.
Most children diagnosed with the disease will die between the ages of six and 12 years old.
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Jori said Charleigh’s journey started eight months ago, when she had her first unexplained seizure.
She said her family had no idea the devastation that would follow from that first scare.
“Our lives quickly became centred around ambulance rides, hospital stays, medication trials, neurology specialists, sleep deprivation and constant worry,” Jori said.
“Genetic testing was performed on Charleigh and waiting for the results was excruciating.”
Children with Batten disease develop normally for the first few years of life.
The first definite sign of the disease is epilepsy and, as the disease progresses, the child will become blind, while also losing the ability to walk, talk and swallow.
By age six, they become completely dependent on a caregiver as they are bedridden, and the children develop dementia and lose all cognitive abilities.
Jori said Charleigh suffers countless painful seizures a day and is now being supplemented through a feeding tube.
“She is still walking and saying a few words, but is declining quickly before our very eyes,” Jori said.
“Between the seizures, medications, and disease she is becoming a shell of the person she was a few short months ago. As a parent there is nothing more painful than watching your child suffer.”
Jori said there is a enzyme replacement gene therapy called Brineura that is critical to help slow down Charleigh’s rapid deterioration, until hopefully one day there is a cure.
She said this treatment is very new, but clinical trials have shown promising results.
The drug is administered bi-weekly through a portal, straight into the brain.
“We have connected with an amazing human being by the name of Andrew McFadyen who is the founder of the Issac Foundation and runs the Project One Million Nonprofit Organization,” Jori said.
“He is tirelessly advocating for Charleigh to hopefully get the funding for this $750,000 U.S. per year treatment. We hope to make history and bring this life-saving drug to British Columbia. Other children in Canada have now begun treatment, after a tragically long wait, but at the moment there are questions about whether B.C. will let Charleigh begin treatment.”
Jori said the treatment, if initiated early, will dramatically slow or halt the disease, but if Charleigh waits any longer to begin, she could see a significant and rapid decline, after which treatment won’t be effective.
“Time is important, and the regular order of submitting and approving these types of treatments need to be set aside because this is an emergency,” she said.
If the treatment proceeds, there will be countless procedures, travel to B.C Children’s Hospital from the Cowichan Valley, medical expenses, loss of wages and Charleigh will need her parents full-time support for life now.
“We will even move provinces and give up everything to give our daughter a chance at life,” Jori said.
“It’s a race against time to get her this treatment. Charleigh is just a few weeks away from her fourth birthday.”
The family is hoping to raise $100,000 on a GoFundMe page, which can be found at www.gofundme.com/charleighsjourney.
The family is receiving a lot of support so far, with $25,000 of their goal raised in just the first day from 261 people.
“Please help save our little girl,” Jori said.
“We are incredibly grateful for all the love and support.”
robert.barron@cowichanvalleycitizen.com
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