Sask. mom hoping for more treatment for son’s rare disease

A Regina mom is fighting for her young son so that he might have a chance to live to become an adult and overcome a rare neurodegenerative disease called CLN2 Batten.

Four-year-old Theo Stumph already suffers seizures because of the disease. His mom, Heather Leask, said it will likely get worse.

“There is a loss of mobility, a loss of language, a loss of sight until the person that suffers from this disease is completely bed-ridden,” she said.

Leask explained her son’s disease is also a genetic one.

“Children with this disease … their life expectancy is six to 12 years of age.”

Despite Theo’s setbacks and the fact they may worsen, his mom said he’s been a tough trooper through the treatments. Those include an anti-convulsing medication and a new enzyme replacement therapy that goes right into the boy’s brain.

“Every second Wednesday we go to Saskatoon so he can have these injections of enzymes to clear away the waste in his brain,” Leask said.

She’s hopeful the treatment will “stall the progress of this disease or stop the progress.”

The treatment requires her son to “sit in a bed for about five hours with a needle in his head, while this enzyme is injected,” she said.

She said he hasn’t complained once during the injections.

The enzyme treatments are called Brineura treatments. The provincial health ministry just approved covering the treatments for Theo in August — it was only approved for use in Canada in December.

Despite the new coverage, Heather is looking to the future and wants to keep fundraising for her son.

She said she hopes gene therapy will be available to him in the future. If it is, she wants to be ready to pay for that as soon as possible.

Theo’s also doing two other treatments in the Regina area that aren’t covered by the province or his family’s private health insurance; his mom is fundraising for those, too.

But gene therapy is the main thing she and Theo’s dad, Mike, are looking toward.

“We’re very hopeful that when it becomes available, be that as a clinical trial or as a certified treatment, that we can offer that to him,” she said.

Heather said anyone interested can donate to the cause on a Facebook fundraiser page, called Theo’s Challenge.