Fourteen-month-old Kevin Verch loves bath time, music, being tickled and being part of any conversation.
“He’s the happiest little boy. If people are talking, he wants to join in,” said his mother, Dana Pearce.
For the first half year of his life, “Lil Kev,” as he is known to his family, hit all of his milestones. But as he headed towards his first birthday, he started to lose strength in his lower limbs and trunk. Kevin used to be able to sit up on his own, but now needs a special seat, said Pearce.
The diagnosis, which came on Dec. 26, was devastating. Kevin has spinal muscular atrophy or SMA, a neuromuscular disease caused by a defective or missing SMN1 gene. Babies with the disease lose the motor neurons responsible for muscle functions including breathing, swallowing, talking and walking. It’s a rare disease, affecting one in 10,000 babies.
The news for Kevin’s family was both good and bad. A few years ago, there were no drug treatments for SMA. Now, there are two treatments that can halt the progression of the disease.
On Thursday at CHEO, Kevin had his first round of Spinraza, a gene-modifying therapy approved in Canada in 2017.
But Kevin’s family is aiming for him to be treated with a newer drug, Zolgensma, a gene replacement therapy approved by Health Canada less than a month ago. It is administered only once, in an intravenous infusion that delivers a new working copy of the SMN1 gene.
The problem? Zolgensma is not currently covered by provincial health plans, and when that will happen is unclear. For now, it costs $2.8 million.
“It’s crazy that it takes $2.8 million to give a child the best life that they could have,” said Pearce.
And the clock is ticking. Zolgensma must be administered as soon as possible after diagnosis. In some countries, including the U.S., it must be administered before a child is two years old.
After the diagnosis, Kevin’s family was scrambling. On Sunday evening, they launched a GoFundMe page. After four days, it attracted more than $55,000 in donations.
So far, between 10 and 20 Canadian babies have been treated with Zolgensma. Although some Canadian patients received free access on compassionate grounds, this ended after it received federal approval on Dec. 16.
Other Canadian families have also gone public to raise money. In Edmonton, a fundraiser for Max Sych, who was diagnosed in November, has attracted about $850,000. Max turns two later this month.
The family of another Edmonton boy, Kaysen Martin, raised over $1 million, including $5,000 from actor Ryan Reynolds. A mystery donor has reportedly paid for the remainder of the cost.
“The federal government should fund these drugs as soon as they are approved,” said Durhane Wong-Rieger, president and CEO of the Canadian Organization for Rare Disorders.
“It’s ridiculous that families have to go through this kind of trouble.”
The challenge is the way the health care system is structured. After a drug is approved by Health Canada, funding the drug must be approved though the provincial and territorial bodies that handle drug plans in a multi-step process.
Health Canada approval allows access to the drug or therapy through regular means, said said Dr. Hugh McMillan, a pediatric neurologist and researcher at CHEO.
If the patient has private insurance they may have partial or full coverage immediately. But if they don’t have private insurance, they will likely have to rely on provincial coverage — and that takes time.
Each province decides if it will cover the cost of the drug, as well as precisely which subset of patients will be covered. Some provinces may set additional, more strict criteria for coverage, said McMillan.
“This can take months to years for this to occur, which presents a very difficult situation for children and their families.”
Neither Spinraza or Zolgensma should be considered a “cure,” said McMillan.
“However, both have been shown to dramatically improve muscle strength and abilities in children with SMA, particularly when used before there were symptoms or early in the course of the disease.”
Zolgensma has been shown to remain effective for six years after treatment, but it’s not currently known if the benefit will persist throughout the child’s life.
Julie Schneiderman, a spokeswoman for Novartis, the drug company that makes Zolgensma, said the company is “actively working through the Canadian reimbursement process and is committed to bringing Zolgensma to Canadian patients in a sustainable manner.”
As for the cost, the therapy was priced “according to the value it provides to the patients, caregivers, healthcare system and to society as a whole,” she said. Because it’s a one-time only therapy, Zolgensma costs half of the current cost of Spinraza over the course of 10 years.
It is the one-and-done nature of Zolgensma that Pearce wants for Kevin. Spinraza is administered through a spinal tap and must be administered every four months.
Kevin’s family lives on Pikwàkanagàn First Nation, near Eganville. Pikwàkanagàn’s chief and council are working to find other avenues for funding, said Kevin’s grandmother, Jessica Verch.
Jordan’s Principle, a program that ensures First Nations children have access to health and educational products and services, is a possibility. But there’s a lot of paperwork, and it takes time the family doesn’t have, said Verch.
Wong-Rieger believes Zolgensma will eventually be covered. But nothing is done quickly and there are patients waiting, she said. “Thank god we have Spinraza. At least the progression will be stabilized.”
SMA has received a lot of attention lately. A year ago, Ottawa’s Aidan Deschamps became the first baby in Canada to be diagnosed with SMA though a provincial newborn screening test. At three weeks old, Aidan became the first baby in Canada to be treated with Zolgensma outside clinical trials. Last month, his family reported that Aidan was crawling, climbing stairs and standing with the help of a chair.
Meanwhile, there have been signals that there will finally be a national strategy for drugs that treat rare diseases. The 2019 federal budget announced funding of up to $500 million a year starting in 2022-23 to support the strategy. A national strategy was mentioned again in the throne speech last September.
“Our vision is that we will bring in a whole new independent program for rare diseases, and create a whole different pathway,” said Wong-Rieger.
“Zolgensma is in a totally different category of therapy. We’ll see even more of these therapies. And some will be even more expensive.”