Regina woman is living proof of 'breakthrough' ALS drug now approved in Canada

Bonnie Allen · CBC News

· Posted: Mar 11, 2025 7:00 AM EDT | Last Updated: 6 minutes ago

A Regina parent who was 1 of the archetypal ALS patients to trial a caller attraction is present celebrating its accelerated support successful Canada for adults with an ultra-rare signifier of the disease.

Paula Trefiak's singular acquisition connected tofersen, a medicine sold nether the marque sanction Qalsody, is reflective of wherefore researchers are calling the cause a breakthrough.

"My beingness has wholly changed. I americium really looking guardant to status now. I ne'er thought I would ever get to retirement," Trefiak, 43, told CBC News.

People diagnosed with amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative upset besides known arsenic Lou Gehrig's disease, person a beingness expectancy of 2 to 5 years. They go trapped successful their body, losing the quality to move, speak, chew and yet breathe.

Health Canada confirms it has granted conditional support to Qalsody to dainty adults with ALS successful cases linked to a mutation successful the superoxide dismutase 1 (SOD1) gene.

Ottawa expedited entree to the cause nether a programme that recognizes it would beryllium unethical to withhold it from patients, but pharmaceutical company Biogen indispensable inactive implicit further objective trials.

The cause is not yet covered nether nationalist oregon backstage cause programs.

Family history

Trefiak, 43, realized she had a beauteous bully accidental of processing ALS erstwhile her begetter was diagnosed with the illness successful 2001. She tin number 26 radical successful her household who person died from the illness successful her lifetime.

Most ALS cases are sporadic, but a tiny fraction are genetic. About 3 per cent of each ALS cases are linked to a mutation successful the SOD1 gene.

Despite her household history, Trefiak said doctors were reluctant to nonstop her for familial investigating erstwhile she was successful her aboriginal 20s. She recounts 1 doc telling her, "You're excessively young to person it. And there's nary cure. There's nary treatment. So it's champion not to find out."

By 2010, her muscles began to cramp for hours and Trefiak felt definite she had inherited the cistron variant. She was diagnosed with ALS successful February 2016, astatine the property of 34.

Her prognosis was dire. There were nary treatments available.

"It was perfectly devastating. I had 3 young children, and to cognize that I was going to suffer my quality to hug them, to buss them, and that they were going to suffer their childhoods becoming my caregivers," she said.

Nine months later, she got a telephone telephone that gave her immoderate hope. She was invited to the Neuro Hospital successful Montreal to instrumentality portion successful a objective proceedings designed for radical with ALS caused by a mutation successful the SOD1 gene.

She believes she received the placebo successful that objective trial, but began the afloat dosage of 100 mg successful aboriginal 2018, during the unfastened statement information of the study.

By then, involuntary musculus twitches successful her look and articulator were causing drooling and stuttering. She was excessively anemic to proceed her jobs as a fittingness teacher and exigency aesculapian responder, and had to springiness up connected her schooling to go a dental hygienist due to the fact that she couldn't clasp the instruments immoderate longer.

Within 9 months of taking the drug, galore of the symptoms reversed.

Clinical trials

Dr. Angela Genge is simply a neurologist, director of the ALS Centre of Excellent astatine The Neuro successful Montreal and pb researcher successful the objective trials.

She said the medicine really modifies the illness itself and slows — adjacent stops — the progression.

"It is capable to halt the illness successful its tracks connected a important fig of patients oregon radical surviving with ALS," Genge said. "[Qalsody] is really a immense breakthrough."

Genge points to the information that Paula Trefiak is inactive alive.

"People are not dying who are successfully connected the treatment," the neurologist said, emphasizing the cause is not a cure and that benefits lone proceed arsenic agelong arsenic the cause is taken.

Today, Trefiak runs and dances.

"I'm a ballet dancer. I couldn't adjacent get up connected my toes anymore and present I tin clasp myself up connected with afloat assemblage value connected 1 ft and I'm backmost wearing my three-inch heels again," she said.

WATCH | Paula Trefiak recorded involuntary musculus twitching successful her look successful 2017. See however she has improved: 

Exciting possibilities

Dr. Genge said this attraction is already inspiring different probe connected therapies for forms of ALS not caused by SOD1, arsenic good arsenic the drug's interaction connected radical who have the cistron mutation but have yet to amusement symptoms.

"So that we drawback radical astatine the very, very, precise beginning, truthful they ne'er really make thing important and we tin dainty them close away," Genge said, noting humor tests tin uncover erstwhile the illness activates.

That's besides breathtaking for Trefiak. She has 3 children who whitethorn person inherited the cistron mutation. This cause could halt them from processing ALS symptoms and assistance them unrecorded agelong lives.