Morquio syndrome. Tuberous sclerosis complex. Pompe disease.
They are unfamiliar words to most Canadians. But advocates hope that the names of these rare diseases and others like them will be on the lips of the country’s health ministers on Wednesday when they gather in Vancouver.
As the federal, territorial, and provincial ministers meet to hammer out a plan for the future of the health-care system, the Canadian Organization for Rare Disorders is renewing its push for the creation of a national strategy to help people diagnosed with uncommon illnesses. According to the lobby group, almost one in 12 Canadians suffer from a form of a rare disease, and they can expect to “face extraordinary challenges” including misdiagnoses, unnecessary surgeries, financial hardship, lack of treatment options and early death.
“More than 30 countries have national plans for rare diseases. So, quite frankly, Canada is very behind relative to the rest of the developed world,” said CORD president Durhane Wong-Rieger.
She described the current system as a patchwork, especially when it comes to drug coverage. Drug treatments for rare diseases can cost tens of thousands of dollars a year, and may not be covered by provincial drug lists. But if they’re recommended by a doctor, patients can apply to the provinces for an exception. The applications are often considered by a case-by-case basis, and Wong-Rieger said there’s little consistency in the decisions.
“One patient will get it, another will not. . . . It is totally arbitrary,” she said.
The lack of standardized policies around treatment of rare diseases has been highlighted this past year by the experiences of three families dealing with morquio syndrome, a genetic condition that leads to stunted growth, heart, bone and respiratory problems and, in many cases, early death. It affects less than 0.1 per cent of the population.
Three of Amir Akhter’s five children have morquio. Muhammad Abdullah, 12, and Khadija, 10, rely primarily on wheelchairs to get around. Sara, 8, can stand on her own.
One year’s worth of treatment with the drug Vimizim could cost about $200,000 per child, and the Saskatoon family’s request for coverage was only recently approved by the Saskatchewan government after initially being turned down.
“After hearing the challenges faced by this family, I asked the ministry of health to revisit the initial decision,” Saskatchewan Health Minister Dustin Duncan said in a Nov. 3 press release.
The family is waiting to start the treatment, hopefully in the next few months. After having fought to ensure his children get access to the medicine, Akhter said all patients for whom Vimizim is recommended by doctors should be able to receive the drug.
“I believe that it doesn’t matter where the patient is living . . . . Once the kids are recommended and are advised to get that lifesaving treatment it shouldn’t take such a long time. It should be a uniform policy for all,” he said.
The New Brunswick government also recently reversed course on funding Vimizim, this time for a Baie-Sainte-Anne family. But it took a year of fighting with provincial health bureaucrats by 10-year-old Morgan Doucet’s mom, Carolle Mazerolle, before the government changed its mind. Initially, Morgan’s case was deemed as too advanced to benefit from the treatment, but the bureaucrats eventually relented under the public and media pressure.
Last month, New Brunswick Health Minister Victor Boudreau issued a brief statement saying the province will pay for up to 12 months’ worth of Vimizim to assess its effectiveness in treating Morgan.
Yet back in Saskatchewan, Carrie Sutherland is still waiting to find out if her children will get coverage. She’s been trying since 2014 to get it for her two children, Shireen, 16, and Garrett, 12.
They live in Duck Lake, Sask., just 100 km north of the Akhter family in Saskatoon. But their home is in the Beardy’s and Okemasis First Nation, where health care is a federal rather a provincial jurisdiction, and the siblings have been repeatedly denied coverage. Health Canada did not immediately respond to a request for comment about the case on Tuesday evening.
Sutherland’s message to federal and provincial health ministers meeting this week is to have some humanity. “Please don’t deny my children their right to their life,” she said. “They want to be healthy like everybody else. They want to have a normal life like anybody else.”
A normal life might already be out of reach for John Nicholls’ daughter Katrina, who was diagnosed with tuberous sclerosis complex (TSC) when she was just six months old. The genetic disease, which affects about 3,500 people in the country, causes non-malignant tumoursto grow on the brain, eyes, kidneys, and other organs. Now 23, Katrina’s symptoms include seizures, cognitive delays and kidney disease.
For years there was no effective treatment, but in 2012 Health Canada approved a drug named Afinitor. The Beamsville, Ont., family couldn’t afford to pay for the treatment, so they applied to the provincial government for coverage. They were rejected. According to Katrina’s physician, she was not eligible because provincial guidelines stated that other treatments had to be tried first.
Katrina’s condition worsened as the tumors inside her grew. By late 2014, one of her kidneys was so damaged that it had to be removed.
Her doctor applied for Afinitor a second time, and was approved. According to Nicholls, since Katrina began taking the drug last September, the growths on her remaining kidney have shrunk drastically, and her seizures have decreased in frequency from two to three a day, to one every other day. But Nicholls said he’s frustrated his daughter couldn’t access treatment sooner.
“If this had have been approved originally, I have no doubt that she would still have two kidneys,” he said.
A spokesperson for the Ontario ministry of health said he could not comment on individual cases, due to privacy reasons. However, according to the ministry’s website, decisions on whether to pay for drugs that are not usually covered under the provincial drug plan are based on recommendations of an expert panel, and considered under criteria that “ensure a fair and consistent review of each request.”
Kimberly Evanochko was also diagnosed with TSC when she was a child. When her symptoms worsened seven years ago, at the age of 23, Afinitor had yet to be approved in Canada, so her family enrolled her in a clinical trial of the drug based out of Cleveland, OH. Her mother Cathy estimates that over five years the family spent $60,000 travelling back and forth between their home in Calgary and the U.S., eating up their savings and maxing out their credit in the process.
They had to re-mortgage their house, but it was worth it. Since Kimberly started taking the drug seven years ago, the disease hasn’t progressed at all, her mother said. The cost of the drug is now covered by the province, but Cathy would like to be reimbursed for the cost of the clinical trials. According to a spokesperson for the Alberta ministry of health, however, travel to another country for experimental treatments isn’t eligible for reimbursement by the province’s insurance plan.
Advocates hoping for a national orphan disease strategy will be encouraged by reports this week that the federal Liberal government will join with provinces in a bulk-buying scheme that will lower the costs of drugs. But experts warn that any national rare disease strategy must strike a balance between addressing the needs of people with orphan disorders and ensuring that there are enough resources in the health system to assist the maximum number of patients.
Steve Morgan, a professor of health policy at the University of British Columbia who supports the idea of a national framework, warned that “strategies for rare disorders can inadvertently become blank cheques for pharmaceutical companies.”
Although many of CORD’s board members have family members with rare disorders or have been diagnosed with one themselves, the organization is a registered charity funded mainly by donations from the pharmaceutical industry.
Morgan said that while it’s appropriate to push for a national strategy, provinces shouldn’t be willing to pay whatever cost is named by the drug companies. He said that while pharmaceutical corporations argue that the high prices are necessary to pay for the resources they invest researching new drugs, the companies rarely disclose those research costs to the public.
“We cannot be in a position of saying any price for any disorder,” Morgan said. “We have to set some reasonable limits.”