Ontario family forced to fight for life-saving drug highlights need for national rare disease strategy

Madi Vanstone, left, alongside Beth Vanstone, right (Handout provided by Beth Vanstone)

Beth Vanstone doesn’t want anyone else to have to fight for access to life-saving medications.

Vanstone’s daughter, Madi, has Cystic fibrosis, a fatal genetic disease impacting the digestive and respiratory systems. Cystic fibrosis can be successfully treated and managed, but not without invasive procedures and extremely costly medications.

The Vanstones have had to lobby for access, not once, but twice for life-saving drugs – Kalydeco and Trikafta – the latter of which can cost up to $300,000 US a year without coverage. Coverage for the drug was not offered in Ontario until September 2021.

According to the Canadian Organization of Rare Diseases (CORD), about one in 12 Canadians – two-thirds of them children – are affected by a rare disorder or disease, but right now, only 60 per cent of corresponding treatments are making it into Canada.

The organization says that most of the drugs end up securing Canadian approval up to six years later than our American and European counterparts.

In 2019, the federal government said it would invest up to $1 billion over two years, beginning in 2022, to develop a national rare disease strategy. However, when asked when Canadians could expect those investments or for details on the promised strategy, Health Canada didn’t provide an estimate.

While the ministry couldn’t provide more details, they pointed to an October 2021 Ministry of Health mandate letter in which Prime Minister Justin Trudeau identified crafting a national rare disease strategy as an objective for incoming Health Minister Jean-Yves Duclos.

Earlier that year, the federal government also reached out to Canadians via an online forum in an attempt to crowdsource ideas for a national drug strategy and hear from those directly affected by patients of rare disorders. While the results can be viewed here, the ministry couldn’t provide actions to be taken from the result of this survey.

“Health Canada is currently working with provinces, territories, and stakeholders to finalize the strategy, as well as activities that will support its implementation,” a spokesperson for the ministry told CTV News Toronto.

Vanstone says the lack of clear direction is the reason she advocates for the implementation of a national drug strategy, and points to one already formulated by CORD as a prime example.

CORD’s five-point action plan is intended to “address unnecessary delays in testing, wrong diagnoses and missed opportunities to treat.”

It’s Vanstone’s mission, alongside CORD, to have that plan, or at least one with similar objectives, adopted by Health Canada. To reach that goal, she's spoken on panels, participated in seminars, helped lead social media campaigns and used her story to try and help other families in similar situations.

‘A NEW DRUG, A NEW FIGHT’

Vanstone says her family wouldn’t have had to educate themselves on the health-care system and fight for access to Kalydeco and Trikafta themselves if such a framework was already in place.

Instead, after hours of meetings with government officials and doctors, Madi was put in a SickKids trial through which she was granted access to the medication.

Before starting on Kalydeco, Vanstone called Madi’s quality of life “horrible.”

“I don't exaggerate when I say that she spent probably 90 per cent of her time on the couch with a blanket not feeling well,” she said. “She missed 96 days of school in Grade 6.”

The day after beginning the trial, Madi could breathe through her nose again.

“She started to gain weight … her lung function went from 70 per cent to 115 per cent of expected value in just 30 days.”

While working wonders on some, Kalydeco is only effective in three to four per cent of the cystic fibrosis population – in Canada, Vanstone says that works out to under 200 patients.

Because Health Canada looks for evidence-based research in its approval process, when a certain drug is only required by a small population, it can complicate and extend what Van calls an already “long and arduous process.”

“Quite often, evidence-based research for those drugs are not available,” she said.

And with each new drug, Vanstone says a new fight is born.

“[Cystic fibrosis] is not the only disease that has those challenges – all rare diseases have a lot of challenges – particularly rare diseases that only have a couple of patients in the country or the world.”

She says Canadian health-care policies aren’t keeping up with the science.

“Science has marched forward,” she said. “Miraculous things are being done – you can take a couple of pills a day and have your genetic defect corrected.

“Our system, sadly, just hasn’t kept up.”