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

Regina mother Paula Trefiak’s journey with ALS has been nothing short of remarkable. As one of the first patients to test a new treatment called tofersen, now known as Qalsody, she is now celebrating its accelerated approval in Canada for adults with an ultra-rare form of the disease. This groundbreaking drug has completely changed Trefiak’s life, giving her hope for a future she never thought possible.

ALS, also known as Lou Gehrig’s disease, is a devastating neurodegenerative disorder with a life expectancy of two to five years. Patients gradually lose the ability to move, speak, chew, and eventually breathe. For Trefiak, who comes from a family with a history of ALS, the diagnosis was particularly devastating. Her father was diagnosed in 2001, and she can count 26 family members who have succumbed to the disease.

Despite her family history, doctors were initially reluctant to send Trefiak for genetic testing. However, in 2016, at the age of 34, she received the devastating diagnosis of ALS. With no treatments available, she faced an uncertain future. But in 2018, she was invited to participate in a clinical trial for Qalsody at the Neuro Hospital in Montreal. Though she believes she initially received a placebo, once on the full dosage, her symptoms began to reverse.

Dr. Angela Genge, lead investigator in the clinical trials, describes Qalsody as a game-changer in the treatment of ALS. The medication has shown the ability to modify the disease itself, slowing or even stopping its progression in many patients. For Trefiak, this means she can once again run, dance, and even wear three-inch heels – a feat she never thought possible.

While the drug is not a cure and must be taken regularly, its impact on patients like Trefiak is undeniable. Not only does it offer hope for those currently living with ALS, but it also opens up exciting possibilities for future research. Dr. Genge notes that this treatment is already inspiring new therapies for other forms of ALS, as well as potential preventative measures for those with the SOD1 gene mutation.

For Trefiak, who has three children at risk of inheriting the gene mutation, this news is particularly hopeful. The drug could potentially prevent her children from developing ALS symptoms and ensure they live long, healthy lives. Her journey with Qalsody is not just a personal triumph but a beacon of hope for all those affected by this devastating disease.