As I pulled into the gravel driveway of the Pollock family home outside Edmonton, the morning light cast long shadows across the frost-tipped lawn. Charleigh, a bright-eyed 16-year-old with an infectious laugh, greeted me at the door before I could knock.
“Mom says I should show you my medals first,” she said, leading me to a display case in their modest living room.
Behind the glass: swimming achievements, debate team recognition, and photos of Charleigh hiking with friends in Jasper National Park. What isn’t immediately visible is that each of these accomplishments exists because of a medication that costs more than many Canadians earn in a year.
Charleigh has phenylketonuria (PKU), a rare genetic disorder that prevents her body from properly processing the amino acid phenylalanine. Without treatment, toxic buildup would cause severe neurological damage. For the past decade, a specialized medication called Kuvan has allowed her to maintain a more flexible diet and neurological health.
But last month, the Alberta government announced it would cut funding for this medication, leaving the Pollock family facing potential costs of $180,000 annually.
“We’ve built our lives around the assumption that my daughter would have access to the medication she needs,” says Karen Pollock, Charleigh’s mother, who works as a dental hygienist. “We don’t have that kind of money. Nobody does.”
The Alberta decision reflects a troubling pattern emerging across Canada, as provincial governments reassess funding for high-cost medications that treat rare disorders—conditions that affect fewer than 1 in 2,000 people. While these treatments are expensive, medical experts and patient advocates are raising serious concerns about the human costs of these policy shifts.
Dr. Aneal Khan, medical geneticist at the University of Calgary and chair of the Canadian PKU and Allied Disorders organization, describes the funding cuts as “short-sighted economics that ignore long-term societal costs.”
“When patients lose access to effective treatments, we don’t just see medical deterioration. We see lost education opportunities, reduced workforce participation, increased caregiver burden, and substantially higher healthcare costs down the road,” Dr. Khan explained during a virtual interview.
Health Canada approved Kuvan in 2010, and clinical studies demonstrate its effectiveness in improving quality of life and neurological outcomes for PKU patients. The Canadian Agency for Drugs and Technologies in Health (CADTH) has recognized its benefits, though the high price tag has been a consistent point of contention.
“This is a fundamental question about what kind of healthcare system we want,” says Nicole Pallone, Executive Director of the Canadian Organization for Rare Disorders. “Rare disease patients already face enormous challenges in diagnosis and treatment access. When we start removing treatments that work, we’re saying these lives matter less.”
The problem extends beyond PKU. Across Canada, patients with conditions like cystic fibrosis, spinal muscular atrophy, and various rare metabolic disorders face similar uncertainty as provinces reexamine funding models for high-cost medications.
Walking through the Pollocks’ kitchen, I notice a complex system of food scales, measuring cups, and nutrition charts—tools that have become less essential with Kuvan treatment but may soon return to dominating daily life.
“Before Kuvan, Charleigh’s diet was extremely restricted,” Karen explains, pulling out a binder of meal plans. “Her protein intake was limited to just a few grams daily. The medication allows her brain to process more protein, which means better development, more energy, and fewer mood swings.”
Behind her, Charleigh interjects: “It means I can have a burger with friends sometimes. Not every day, but sometimes. That might not sound important, but when you’re a teenager…”
Dr. John Mitchell, Director of the Metabolic Diseases Clinic at Montreal Children’s Hospital, has studied the impacts of PKU treatment access across different jurisdictions.
“When we look at countries or regions where treatment access is inconsistent, we see measurable differences in outcomes,” he says. “Cognitive function, mental health, educational achievement—these aren’t just quality of life measures. They determine whether someone becomes an independent, contributing member of society or requires lifelong support.”
The financial calculus is complicated. Provincial health authorities must balance immediate budget constraints against long-term outcomes. A report from the Conference Board of Canada estimates that for every dollar invested in rare disease treatments, approximately $2.50 in social and economic benefits are generated through reduced hospitalizations, increased productivity, and decreased disability support requirements.
Back in the Pollock home, Karen shows me a letter she’s writing to Alberta’s health minister. It’s her fourth this month.
“I understand budgets are tight,” she says. “But cutting Charleigh’s medication doesn’t save money—it just shifts costs elsewhere while drastically reducing her potential. How is that good policy?”
The federal government’s long-promised national rare disease drug strategy, announced in 2019 with a commitment of $500 million, remains in development. For families like the Pollocks, the delays feel increasingly desperate.
Last week, rare disease advocates from across Canada gathered on Parliament Hill, urging acceleration of the national framework. Their stories varied in medical detail but shared a common thread: access to appropriate treatments transformed lives from constant medical management to genuine participation in society.
“These medications don’t just add years to life—they add life to years,” says Dr. Khan. “That’s something our health technology assessments struggle to adequately capture.”
As I prepare to leave, Charleigh shows me a science project she’s working on—an exploration of genetic therapies that might one day provide more affordable treatments for conditions like hers.
“I want to study biochemistry,” she tells me. “Maybe I can help fix this problem someday.”
Whether she gets that chance may depend on decisions being made in provincial health ministries right now. For the Pollocks and thousands of Canadian families facing similar circumstances, the stakes couldn’t be higher.
