Vancouver Island parents desperate to get help for daughter with rare disease
Posted June 12, 2019 8:56 pm.
Last Updated June 12, 2019 10:54 pm.
VICTORIA (NEWS 1130) — A Victoria-area couple is living most parents’ worst nightmare, as their three-year-old daughter Charleigh has been diagnosed with a devastating, debilitating and deadly disease: CLN2, also called Batten disease.
It’s an extremely rare disease — only 13 children in Canada have it — and the drug that can slow, or maybe even halt the progression of the disease is just out of reach. The longer she waits to get it, the worse she her condition will get.
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The drug Brineura has passed two levels of federal approval, but hasn’t been approved for coverage in B.C.
Jori Fales says the disease is like Alzheimers, Parkinsons and Multiple sclerosis in one. She suffers countless, painful seizures every day and uses a feeding tube.
There’s no happy ending for Charleigh and her family – not for the foreseeable future anyway – even with the drug. She will need to have it every 14 days – and it is administered into her brain via a surgically inserted stent. But it could halt her degeneration. #bcpoli
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Just weeks ago she learned the disease is taking away Charleigh’s ability to everything, and when she turns four in a few weeks, it will just get worse.
“As the disease progresses the child will get dementia and lose all cognitive abilities and they won’t even know who anyone is anymore,” she says. “So even by age six she would be completely dependent and will have lost her vision by then, and the deterioration just keeps going.”
Most children with the disease will only live to between six and 12 years.
The drug Charleigh needs passed federal tests just days after she was diagnosed, and B.C.’s drug council approval team is set to meet on it in July.
The ministry says they are aware of this case and the urgency and are treating it as such.
Now the family is raising money for her treatment — it will cost $750,000 USD a year. A GoFundMe has so far raised over $66,000 of the $100,000 goal.
