Supporters frustrated one year after Saskatchewan pledge to explore rare disease strategy | PKBNEWS

Since telling the story of her son Conner in the Saskatchewan Legislature in late 2021, Kirsten Finn has been advocating for better preparedness for rare diseases in the healthcare system, both in Canada and across the South. from the border, where his family now resides.

However, despite Saskatchewan Health Minister Paul Merriman’s promise to explore the creation of a provincial rare disease strategy, she says she is struggling to get her message across.

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

The Finn family had to move 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 quick access to Canada, the Finns traveled to Minnesota to seek the $832,000 stem cell therapy (which was eventually paid for by the Saskatchewan government), an effort that saw the family liquidate their retirement savings and moving to a new country to find a job.

But while she was able to get her message across to policymakers in the United States, Kirsten says the experience hasn’t been the same in her home country.

“Here in Kansas, I testified before the Kansas State Senate. I testified before the FDA about newborn screening and ensuring that families who receive these diagnoses receive the appropriate support and are able to see the appropriate specialist for care,” she said.

“It was a rewarding experience, but I had some frustrations north of the border about it because it’s very difficult to get someone to engage with you on the subject. I had more rights to plead in a country where I am not even a citizen.

She says that since telling her story in Regina, she has written several times to the Prime Minister’s Office, Canadian Health Minister 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.

In particular, Finn would like to see other diseases added to the list of diseases that newborns are screened for.

ADL, for example, is a genetic disease. Finn says several US states and countries have initiated newborn screening for ALD, but screening is not routinely done in Canada.

“When you look at a condition like my son’s, there’s been a valid screening test for that for a decade, and I’d like someone to justify why something like that wouldn’t be included in the panel of newborns,” she said.

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

She would also like such a strategy to include a recruitment and retention plan for specialists.

“In the province of Saskatchewan, there hasn’t been a metabolic doctor since my son had a transplant. They haven’t been able to recruit for that position and as a result it’s being filled by someone who doesn’t have that experience,” Finn said.

“Again, there is not equitable access to this expertise for children with rare diseases in Saskatchewan.

The Canadian Organization for Rare Disorders estimates that one in 12 Canadians is affected, 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 Finns navigate the healthcare system.

He also pleads for the Canadian province to create strategies on rarer diseases.

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

“This office should have the expertise of ethicists, looking at equity of access and all the principles that need to be considered when you think about exceptional access to medicines. It also needs to be a place families can go to help navigate the system,” he said.

“A lot of the barriers that we see, and a lot of the breakdown that’s happening, is not that governments don’t want to meet the needs of their citizens, it’s that the process isn’t easily navigated by people. families and physicians to present these demands to decision makers.

McFadyen says there will be a “tsunami” of approved treatments for rare diseases in Canada over the next decade.

“I also think this office could also be responsible for outreach to the pharmaceutical industry to ensure a collaborative approach to providing access to off-formulary medicines,” 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 this crushing blow that’s going to befall our system now, then in the future, they simply won’t be able to keep up.

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

“If Saskatchewan can lead that lead on the rare disease side and make it a national program, we sure would love to be able to do that, so I’ve asked my officials to look into that,” Merriman said Nov. 2. 22. 2021.

PKBNEWS has contacted the province and will update this story if a response is received.

“To be told, ‘I’m sorry, you were caught too late, now you have to take your child home to die,’ you know, their child is on death row,” Finn said. .

“And then the parent also gets a life sentence because they then have to deal with the moral harm that their child could have been saved if they had only implemented the screening.”