When Karolina Figarski gave birth to her daughter, Olivia, the doctors described her as a healthy baby girl. But before her first birthday, problems started to show.
"I would notice things like she's really struggling to lift a leg on a step, or she would just suddenly buckle and she'd fall so she'd chip her teeth," Figarski said.
A couple years and numerous tests later, Olivia was diagnosed with spinal muscular atrophy, a rare genetic disorder that causes progressive loss of physical strength. It can affect patients' ability to walk, eat or even breathe.
The B.C. family and others like them felt desperate for a cure, so when a treatment hailed as a "miracle drug" for SMA sufferers was approved by Health Canada earlier this year, they cheered.
"All of us in the community were at the edge of our seats, just so excited," Figarski said.
Unfortunately, their celebration might have been premature. Despite Spinraza's approval, and even though it has been shown to halt and sometimes even reverse the effects of the condition, Figarski has no idea when it will be made available to her daughter.
"It's like someone pulled the plug and there's silence," she said. "It devastates me because there's nothing I can do."
The drug is currently undergoing a review through the Canadian Drug Expert Committee to determine a recommended price in Canada. South of the border the drug is incredibly expensive, costing U.S. $750,000 for the first year of treatment alone.
Once the review is completed, the provinces will have to determine how to handle their own coverage – if they'll cover Spinraza at all.
Some families who are under extended health plans already have access to the treatment, but Figarski isn't among them, and the wait to learn what happens next is unbearable.
"This is a drug that stops the disease from doing its damage to our children," she said. "My daughter's condition isn't going to wait."
Figarski said she used to visualize Olivia being able to walk, but as the SMA progresses "that vision is going away very quickly."
The Canadian Organization for Rare Disorders has been pushing for an early access program that would prevent patients from having to wait during price negotiations. Unfortunately, that hasn't happened.
"It's sad for the parents but it's infuriating for us," organization president Durhane Wong-Reiger said. "You're holding these patients for hostage and you're using them as a negotiation tool."
B.C.'s Ministry of Health issued a brief statement saying it would not be appropriate for the province to comment on the situation before the federal and local reviews are completed. The process needs to be free from political interference, a spokesperson told CTV News in an email.
According to the CDEC, it reviewed Spinraza during a Nov. 15 meeting, but the manufacturer has a month to request a reconsideration or resubmission. The earliest a final decision could be made public is Dec. 15.
Once that's done, the province can begin its own three-step process. In the meantime, families like Figarski's have nothing to do but watch their loved ones deteriorate. Though Olivia is no longer able to stand, she can still eat and breathe for now.
"My daughter still has so much to lose," she said.
