SUNDRE — A glimmer of hope for children suffering from spinal muscular atrophy (SMA) became much brighter last week in light of the provincial government’s announcement that families affected by the degenerative disease might now be eligible to receive funding for a gene replacement therapy treatment that at more than $2.1 million U.S. per dose is said to be the most expensive drug on the planet.
“Alberta’s government is working with Novartis Pharmaceuticals Canada Inc. to provide interim patient access to Zolgensma,” reads a portion of a press release dated Jan. 27.
“SMA is a rare and progressive genetic disorder that causes muscle wasting. Alberta children with SMA and who may become ineligible for the treatment while waiting for the final approval processes to be completed, will be considered for funding on a case-by-case basis,” the statement adds.
The disease — a motor neuron disorder that can affect the muscles used for head and neck control, sitting, crawling, walking and swallowing — is extremely rare, affecting only one in every 10,000 children.
Among them are two-year-old Mighty Max Sych, great nephew to Sundre’s Derrick Calvert, president of Dirk’s Auto & Marine.
Bryarly Parker, Calvert’s niece and Max’s mom, said she had received a phone call to inform the family of the development ahead of the official press release.
While the news was exciting, Parker added, “It’s not like it was a weight lifted.”
“We don’t have a lot of answers,” she said, adding that there’s generally a learning curve involved, especially with brand new government programs that haven’t yet been tested.
“There’s always that asterisk with (a disclaimer to) read the fine print,” she said.
Nevertheless, the announcement was a welcome one.
“Right away, we spoke to our doctor,” she said.
There are, including their own, only two families in Alberta currently looking at receiving the treatment, which was approved by Health Canada in December and is administered by intravenous infusion to replace a missing or faulty gene, she said.
“And so we have the same neurologist,” she said, adding there are also only two neurologists in the province who deal primarily with SMA.
“So, our neurologist did up the paperwork last night actually, and then sent it in this morning,” she said during a phone interview on Jan. 28. The process from that point could usually take upwards of two weeks, she added.
“It might go quicker because both of us are on a very tight timeline.”
Time is of the essence, and although the age of two is not technically the cut off for the treatment, the sooner Zolgensma is administered, the better, she said.
“Children that do receive it before two have shown more successes.”
Additionally, there are other lingering question marks, she said.
“Right now, there’s not even Zolgensma in the country. So, that still has to be brought in,” she said.
Also, she said the family does not yet know — should they get approved — whether their neurologist will be the one to administer the drug.
“Because she has never done it before,” said Parker, who was uncertain if perhaps training would be involved since the treatment is so specialized.
So for now, she said the family must play the waiting game and plans to in the meantime continue raising funds as well as advocating for other families affected by the rare disease across the country.
“That’s all we can do,” she said. “(And) if we do get denied, we’ll still be able to access the treatment itself, but we’ll just have to pay the price tag.”
Although their family did not launch the effort to raise funds and awareness, they were keen to join the fight that had been started by others, she said, convinced that advocacy played a major role in the provincial government’s announcement.
“(Health Minister) Tyler Shandro was receiving 400 emails a day from people that were advocating for us,” she said.
“That came from one of his assistants, who let us know he was being bombarded with these emails.”
Their objective was to either raise the funds themselves or convince the government to cover the new breakthrough treatment.
“That was our goal — to us, kind of almost an unrealistic one — but that’s kind of what we had set our mind to do and accomplish. It’s an incredible feeling to be able to say this was done,” she said.
“I mean for us, this was a huge, huge step, and a huge hurdle to overcome. It’s great that this is now offered in Alberta, because it’s a necessity for some of these babies. There will be more, unfortunately, that wind up with this disease.”
For that reason, the family intends to continue pushing forward not only with efforts to raise funds, but also advocacy.
That way, if things fall through and the family doesn’t receive provincial funding, they’ll still have financing in place to access the treatment. And if they are approved, the money will still be put to good use.
“We’ll sit down with the group of people that started this whole thing, and we’ll kind of come up with what’s the best thing to do with funds raised,” she said.
“I think the first thing would probably be putting it out there, if you would like your money back, by all means. But we definitely would be pitching this is where this money can go, we want to thank you so much for supporting us and our fight.”
After all, other families struggling to cope with the condition might also require assistance, she said.
“This is a life-long disease," she said.
While the treatment stops the progression, it does not actually cure the condition. And while the new drug is an incredible marvel of modern medicine, it is also very new, meaning long-term outcomes remain unknown, she said, adding the oldest child to have been dosed with Zolgensma to date is now six years old.
“We just don’t know what could happen (in the long-term). That’s the scary part,” she said.
In other words, Mighty Max — and the children of other affected families — might yet require assistance to meet mobility needs, she said.
“We’d like to continue our help with families with rare diseases — not just SMA,” she said.
The provincial government said in the press release that it will continue working with the Canadian Agency for Drugs and Technologies in Health and the pan-Canadian Pharmaceutical Alliance to complete the standard drug review and negotiation processes, and to reach a long-term agreement for access to the drug for other children and families.
“Access to this treatment will mean a world of difference for these few brave children and their families. Alberta’s government recognizes the urgency families are experiencing in getting treatment for their children diagnosed with this disease and we are pleased to be able to provide interim funding to help them out,” Shandro said in a prepared statement included on the release.
