EDMOTON -- The family of a little boy in need of a $3-million treatment says they have no idea whether their pleas for help to the government will be heard in time.
“I’m feeling really emotional and frustrated with the whole process," Lana Bernardin told media on Friday, about three-and-half months after a fundraiser was launched to help the family afford Zolgensma, a one-time gene therapy treatment not currently approved in Canada.
Her son, Kaysen, is one of three toddlers in the capital region diagnosed with spinal muscular atrophy, which affects the muscles used for lung support, swallowing, walking, and head control.
Zolgensma is considered the best option for young SMA patients and is said to be best administered before the age of two – but is not available to Canadian families and has a price tag of $2.8 million.
Almost $1.1 million was raised for Kaysen as of Friday.
The Edmonton boy celebrated his second birthday on July 17 – without word the Alberta government would step in to speed up the approval process.
"We were told they needed a little bit more time so that they would hopefully have something for us Tuesday. Tuesday rolled around, didn’t get anything," Bernardin said.
The latest the mother heard was the pan-Canadian Pharmaceutical Alliance (pCPA) had entered negotiations with Zolgensma's maker, Novartis, but the process isn't bound to any timeline.
"It comes a point where, when is it safe for Kaysen? And when do we have to pull the cord? So they’re just not being really clear on exactly how long this is going to take.
"It could be weeks, it could be months, and then what?"
Steve Buick, Health Minister Tyler Shandro's spokesperson, said Shandro sympathizes with the Kaysen family, and that "his staff are working with department officials and the manufacturer to try to find a solution to cover the drug for them."
Buick added Shandro and the family have been in touch regularly.
"We realize the family wants a decision urgently, and that the drug needs to be provided as soon as possible. We’ve assured them that Kaysen’s second birthday has not closed off a potential solution, because the 'Special Access Program' that authorizes the drug for him is not bound by the same clinical indication as the submission for regular approval."
THE PROCESS OF BRINGING AN UNAPPROVED DRUG TO CANADA
The pan-Canadian Pharmaceutical Alliance is a coalition of provincial/territorial and federal governments that negotiates as one group with drug manufacturers for the purpose of bringing a treatment into the country at better cost for public insurers.
The negotiations are usually done privately by a lead representing province. If the pCPA is successful, and the drug is approved in Canada, families like Kaysen's can receive reimbursement.
"Everybody is aware of how urgent the situation is. Everybody is motivated by doing the right thing,” Calgary – Shepard MP Tom Kmiec said, adding he's had several face-to-face conversations with those involved.
He was part of a campaign to bring Kaysen's current treatment, Spinraza, to Canada nearly two years ago.
At the time, the Alberta government, like Ontario had earlier, went to Spinraza's manufacturer and arrange its own deal for coverage in the province.
"The provinces have this organization so they can get bulk purchase pricing. This stuff doesn’t work for a rare disease drug where you have a handful of patients in a province. You’re not going to have bulk pricing," Kmiec explained. "This isn’t like buying Tylenol or you’re buying by truckloads. You’re buying by small vial-loads you can probably fit in a purse."
He wants to see Alberta make the same move again.
"I'm calling on the Alberta government to do the right thing, to do the compassionate thing: Cover this drug, provide it. It’s not that many individuals. Do what they did with Spinraza. It was the right thing to do then and it’s the right thing to do now.”
Buick told CTV News Edmonton the Alberta government is bargaining directly with Novartis.
However, the pCPA's process tends to get a better price than direct negotiations, Buick says, and normally that process is completed before before Health Canada approves the drug for the whole country.
ZOLGENSMA IS 'CUTTING EDGE'
Kmiec told media he has written to Health Minister Tyler Shandro making the same case for Zolgensma he did for Spinraza two years ago.
"The business case just makes itself once you look at the numbers and the likelihood of a child with SMA winding up at the hospital in a (pediatric intensive care unit) bed – that’s thousands of dollars a day, minimum."
When Spinraza was approved for sale by Health Canada in 2018, it became the country's first treatment for spinal muscular atrophy. The Canadian Agency for Drugs and Technologies in Health, which makes recommendations to the provinces about whether to cover the costs of new medications, recommended Spinraza be covered only for those – like Kaysen – with Type 1 SMA, a form with onset in infancy. That recommendation was based on the conditions that there be a “substantial reduction in price” and on the collection of “real-world evidence” of the drug’s effectiveness.
The drug is injected into the spine and delivers pieces of synthetic DNA to boost production of the gene responsible for protein development that is missing in people with SMA.
Kaysen would need a Spinraza injection three times a year for life at an annual cost of $375,000.
The toddler would just need one treatment, however, of Zolgensma for the rest of his life.
"It literally deletes a line in your DNA, replaces it with a line that you need, so this condition doesn’t continue in you. This is cutting edge medicine. This is where medicine is heading,” Kmiec commented.
He says he told Shandro that providing Zolgensma would not only be the compassionate thing, but the smart thing.
"This will save, I think, costs in the long term.”
The provincial government did not return CTV News Edmonton’s request for comment Friday.
'WE LIVE IN CANADA. THERE'S NO REASON’
“I want this to end, I want our life to go back to normal and I want to be going to the park rather than doing this," Bernardin says.
The last few months have been exhausting; she told CTV News Edmonton it feels like her family's story has turned into a bargaining chip, without yet turning any results for her son.
"I need something at the end of the day. It’s just been a long, emotional roller coaster and I need something to move forward, and at this point, it’s not fair that these families are trying to raise $3 million to give their children a better quality of life."
According to Cure SMA Canada, the condition affects one in 6,000 children born in the country, leaving one in 6,000 families facing an impossibly difficult journey.
- READ MORE: 'Heartbreaking': Alberta families describe waiting for life-changing drug to be made available in Canada
- READ MORE: Family of Edmonton toddler with rare disease asking for $2.8M drug to be funded by Alberta
"We’re essentially pinpointed against each other that we need to raise this money to save our children," Bernardin said of the SMA community, with whom she has built lifelong friendships.
"I’m hoping our kids can get old together. I hope Kaysen can marry one of these cute little SMA girls."
"We live in Canada. There’s no reason why we should be forced to raise $3 million."
The family hopes negotiations between Novartis and pCPA happen quickly. They’ve vaguely been told Kaysen has some wiggle room: the frequently heard two-year-age limit is in place in the U.S. and is what is outlined by Novartis, but Japan and Europe have cleared its use for kids under a certain weight.
Kaysen still slides under those limits.
While his mother wants Zolgensma made widely available, she wants it to happen when there is still time left.
"These negotiations, where (do they) leave Kaysen at the end of the day?"
With files from CTV News Edmonton’s Jeremy Thompson and CTVNews.ca