Advocates frustrated a year after Saskatchewan’s pledge to explore rare disease strategy

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Advocates frustrated a year after Saskatchewan’s pledge to explore rare disease strategy
WATCH: The mother of a Saskatoon boy who had to go to the USA for life-saving treatment fears her efforts to improve rare disease treatment at home will go unheard – Jan 24, 2023

Ever since telling the story of her son Conner at the Saskatchewan legislature in late 2021, Kirsten Finn has been advocating for better rare disease preparedness in the health-care system both in Canada and south of the border, where her family now resides.

However, despite a promise from Saskatchewan Health Minister Paul Merriman to explore the creation of a provincial rare disease strategy, she says she’s been having trouble getting her message across.

“Initially they said, ‘Yes we’d like to work with you on that,’ and now I can’t get them to return my calls,” said Finn.

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The Finn family had to relocate from Saskatoon to Kansas as part of efforts to find treatment for Conner, who was diagnosed with adrenoleukodystrophy (ADL) when he was four years old.

Unable to find timely access in Canada, the Finns travelled to Minnesota to seek out the $832,000 stem cell therapy (which was eventually reimbursed by the Saskatchewan government), an effort that saw the family liquidate their retirement savings and move to a new country to find employment.

But while she’s had some success in getting her message to policymakers in the United States, Kirsten says the experience hasn’t been the same in her home country.

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“Here in Kansas, I’ve testified before the Kansas state senate. I’ve testified before the FDA with regards to newborn screening, and ensuring the families that are receiving these diagnoses are receiving the proper support and are able to see the proper specialist to seek treatment,” she said.

“It was a rewarding experience but I’ve had some frustrations north of the border in terms of that because its very hard to get somebody to engage with you on the topic. I’ve had more rights to advocate in a country where I’m not even a citizen.”

She says that since telling her story in Regina, she’s written multiple times to the Prime Minister’s office, Canada Minister of Health Jean-Yves Duclos and Minister Merriman.

But she said the most she received from the province of Saskatchewan was a “form-type letter”.

“It was nothing that specifically addressed my concerns,” Finn said.

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Particularly, Finn would like to see more added to the list of diseases newborns are screened for.

ADL, for instance, is a genetic disease. Finn says several states in the US as well as multiple countries have initiated newborn screening for ALD but that the screening is not being commonly practiced in Canada.

“When you look at a condition like my son’s, there’s been a valid screening test on that for a decade, and I would like someone to justify why something like that would not be included on the newborn panel,” she said.

“Right now newborn screening is very piecemeal across the country, what is screened for depends on the province you live in. Whether or not you live or die shouldn’t depend on your postal code.”

She would also like to such a strategy include a plan for recruiting and retaining specialists.

“In the province of Saskatchewan there hasn’t been a metabolic physician there since my son went to transplant. They have been unable to recruit for that position and therefore it’s being filled by someone who doesn’t have that background,” said Finn.

“So again, there’s not equitable access to that expertise for children with rare diseases in Saskatchewan.”

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The Canadian Organization for Rare Disorders estimates one in 12 Canadians is affected by one, either directly or indirectly, two thirds of them being children.

Andrew McFadyen, whose own son was diagnosed with Maroteaux–Lamy syndrome, started the Isaac Foundation to help families like the Finns navigate the healthcare system.

He’s also advocating for Canada’s province to create rarer disease strategies.

He’d like to see provincial offices set up where families, patients and health-care providers can easily find expertise.

“That office should have expertise from ethicists, looking at equity of access and all of the principles that need to be considered when you’re thinking about exceptional drug access. It also needs to be a place families can reach out to to help navigate the system,” he said.

“A lot of the barriers we see, and a lot of the breakdown that happens, isn’t that the governments don’t want to be responsive to the needs of their citizens, it’s that the process isn’t easily navigated by families and physicians in order to get those applications in front of decision makers.”

McFadyen says there’s a “tsunami” of approved rare disease treatments in Canada over the next decade.

“I also think that office could be responsible for the outreach to the pharmaceutical industry as well in order to ensure there’s a collaborative approach to provide access to off-formulary drugs,” he said.

“We’re looking at $3 million and $4 million for some of these therapies. If a place like Saskatchewan doesn’t implement ways to deal with that crushing blow that’s going to happen to our system now, then in the future they’re just not going to be able to keep up.”

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When he announced the Ministry of Health would reverse its initial decision not to reimburse the Finns’ expenses, Minister Merriman expressed a desire to explore the creation of a strategy.

“If Saskatchewan can lead that charge on the rare disease side of things and make it a national program, we’d certainly like to be able to do that, so I’ve asked my officials to look into that,” Merriman said on Nov. 22, 2021.

Global News has reached out to the province and will update this story if a response is received.

“To be told, ‘I’m sorry, you’ve been caught too late, you now have to take your child home to die,’ you know, their child receives a death sentence,” Finn said.

“And then the parent also receives a life sentence because they then have to grapple with the moral injury that their child could have been saved if only they’d had the screening in place.”

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