This is where everybody loses out

Stepping into the Guitard-Lapointe family home in Val Caron, Ont., the first thing you notice are the tiny slivers of sunlight poking through the curtains, which are drawn tightly shut.

It’s July, and for most toddlers, that means days spent outside, walking barefoot through the grass or running through the sprinkler in the backyard, under the summer sun.

But for three-year-old Alina Lapointe, that isn’t possible.

“We don’t go outside at all,” said Cindy Guitard, Alina’s mother.

“We try and make Alina as happy as we can, in the house, every day. And she is, she is happy. And she’s very loving and strong, and a very brave little girl. We keep it dim in every room of this house — for her.”

Alina was just four months old when she experienced her first seizure. After several months of monitoring and testing, she was diagnosed with a rare form of epilepsy called Dravet syndrome. One of her main triggers is light sensitivity.

The highly drug-resistant form of epilepsy puts Alina at an increased risk of developing cognitive delays, or what’s referred to as sudden unexpected death in epilepsy (SUDEP), said Dr. Evan Lewis, the medical director with the for profit Neurology Centre of Toronto.

Most often, SUDEP claims the lives of people with epilepsy during or right after a seizure.

Researchers estimate up to 20 per cent of children diagnosed with Dravet syndrome do not make it to adulthood.

So far, Alina has tried and failed five medications to help prevent or reduce the impact of the seizures. Her parents, Guitard and Alexis Lapointe, have also been paying out of pocket for cannabis oil as an added measure to quell the seizures, which she experiences between 10 and 100 times a day. Cannabis oil has proved to help control the toddler’s grand mal seizures, which can cause loss of consciousness and violent muscle contractions.

Now, her parents are bracing themselves as they prepare to start Alina on another drug, Stiripentol, in an attempt to control the seizures.

“I’m scared to try another one [drug],” Guitard said, “because so many other ones made her seizures worse, aggravated her seizures, also made her condition worse and caused new seizures we hadn’t even seen before.

“I’m not hopeful, but I know we have to try what’s available. We have to,” she said.

What’s particularly frustrating for Guitard and Lapointe, as they prepare to start Alina on Stiripentol, is they know there is a newer, more promising treatment for Dravet syndrome.

But it has not yet been approved in Canada.

In June 2020, the U.S. Food and Drug Administration (FDA) granted approval for Fintepla, which is also referred to as fenfluramine, which was originally developed as an appetite suppressant.

The drug is expensive, between $3,000 and $10,000 Cdn a month for those taking it. For a toddler like Alina, the cost to the Guitard-Lapointe family would be about $3,000 every month.

So far, Health Canada says it has not yet received a submission to review use of fenfluramine to treat Dravet syndrome in this country. But it’s aware the drug has been approved in other countries like the U.S.

Zogenix, which owns the drug, says there are ongoing discussions on whether it will apply for approval in Canada. But nothing concrete, for now.

Approval for the drug in Ontario has been limited to just one family, who are in Waterloo.

Both of Hilde Wong’s daughters, Evelyn, 8, and Janelle, 6, suffer from Dravet syndrome.

In 2021, the sisters’ neurologist put in a request through Health Canada’s Special Access Program. But approval of the drug was only the first hurdle the family had to overcome. The second, and more challenging, step was to obtain funding support from Ontario’s Ministry of Health.

“It took a long time,” Wong said.

“Getting funding support was very difficult because the medication costs about $3,500 per child [a month]. So without getting any funding, it was impossible to pay for.”

Since her daughters were approved to use fenfluramine, and the family was OK’d for the funding, Wong said, the improvement in their quality of life has been striking. Together, the girls were averaging 35 prolonged seizures a month, each lasting between five and 90 minutes. Since they’ve been on the drug, that average has been cut in half.

“It really leaves a more hopeful future for us,” Wong said, “so with the seizures better controlled, we really hope that they will be able to live healthier, longer lives.”

Both the Wong sisters are being treated by a pediatric neurologist out of Hamilton Health Sciences McMaster Children’s Hospital.

After Guitard became aware of Wong’s success in accessing fenfluramine, she called Lewis, who’s a pediatric neurologist. But she was told Alina is likely to have more luck exploring other drugs that are more readily available in Canada.

The doctor said while there are problems in accessing drugs like fenfluramine that need to be addressed, it’s a complex situation that goes beyond facilitating studies to ensure the drug is safe.

“Medications are racked up in an industry where there is a lot of health economics involved,” he said. “There are companies that develop these medications and there has to be a viable business case — that’s the reality of it.

“We’re a small country; we have 30 million people. Then you look at epilepsy, which affects one per cent of the population,” Lewis said. “Now, you look at Dravet syndrome, which is a very rare syndrome nested within a condition like epilepsy that is somewhat rare, and there aren’t that many people affected by Dravet syndrome when you look at it from a country point of view.

“This is where everybody loses out.”

Only health-care practitioners can submit requests to Health Canada’s Special Access Program, as they’re responsible for the treatment decisions for their patients.

For Canadians like Alina’s parents, it’s a difficult truth to swallow, as she’s beginning to show cognitive delays. As well, recently, she’s been experiencing more seizures during the night that have required special rescue medication.

Alina will soon try Stiripentol, which has been approved in Canada since 2012. It’s also covered under Lapointe’s work insurance.

Guitard and Lapointe are also concerned about other children living with the rare condition.

“Our children are dying, our children are becoming cognitively delayed every day that we don’t have this treatment,” Guitard said.

“Our children’s conditions are worsening. They’re having more seizures. We need to control these seizures, and if there’s a new treatment that shows promise — that’s all we want. We just want our children to manage, to get through one day without having a seizure.”

While for now, there are no silver linings to be had, Guitard and Lapointe said they won’t stop until they find a drug that offers the life and relief they know their daughter deserves.