Kirsten Harkins vividly remembers looking at the booklets in the doctor's office and learning what her five-year-old son, who had just been diagnosed with mucopolysaccharidosis (MPS) type 1, would likely experience in the next few years: progressively worsening hearing and vision, debilitating joint deformities, heart disease and other organ problems and stunted growth. She was told he likely wouldn't live past his 20th birthday.
"That would be his life … increasing burden and symptoms," said Harkins, who lives in Vancouver.
MPS 1 is part of a family of rare diseases; and people affected are unable to produce an important enzyme. Estimates suggest MPS 1 occurs in as few as one in every 100,000 births.
Harkins felt a glimmer of hope when she learned a new treatment was being tested in Vancouver that could help prevent progression of the disease. They applied for access and Harkins's son Nicklas began taking the drug in 2003, about two years after his diagnosis. The cost was picked up by the drug company, the hospital and then the government. The treatment has helped slow the disease and given her son, who is now 18 and going to college, a chance at life, she said.
But it comes at a high price. The drug, laronidase, also known by its brand name, Aldurazyme, costs an estimated $200,000 a year, making it one of the most expensive drugs in the world. But this drug is certainly not in a class by itself. In fact, rare disease drugs, also referred to as orphan drugs, are becoming more common as genetic breakthroughs bring scientists closer to effective treatments and the pharmaceutical industry recognizes the potential of this once-neglected corner of the marketplace.
Considering that Canada already pays some of the highest prices for drugs in the world, the anticipated boom in the rare disease market is raising serious concerns over how we pay for them.
Families of patients with rare diseases have become increasingly vocal in the past decade and exert considerable pressure on federal and provincial governments to fund these expensive medications. They organize rallies, meet with politicians and use social media to call attention to the issue of rare diseases. In some cases, drug companies pay or provide other support to patients or advocacy groups to use personal stories to lobby for public coverage of rare disease medications.
"For me, this is something that is absolutely unacceptable," said Marc-André Gagnon, a pharmaceutical policy expert and assistant professor at Carleton University's School of Public Policy and Administration.
The dilemma facing government policy makers is which of these exorbitantly priced, but potentially life-altering, medications it should pay for. In some cases, the benefits of rare disease drugs may be only marginal, despite persuasive anecdotes from vocal patient advocates.
Canada doesn't have a clearly set definition for rare diseases. In the U.S., it's defined as a disease that affects fewer than 200,000 people, or about 1 out of every 1,500 people. In Canada, it's estimated that there are more than 7,000 rare diseases affecting nearly three million people. The high prices of rare disease drugs, which can cost hundreds of thousands a year, are too much for the average Canadian. Although private insurance can cover the cost of some drugs, many of them have caps or restrictions, which means patients must turn to provincial drug plans for coverage.
The lack of something as basic as a definition of rare diseases is evidence Canada needs to adopt a better approach to dealing with them, according to Harkins. Unlike countries such as the U.S., Canada hasn't established guidelines for clinical trials or approval timelines for rare disease treatments, which can make companies reluctant to seek drug approvals here, she said. There is also no regulatory framework for the approval of rare disease drugs, which means patients often have to apply for access on a case by case basis, which can be slow and inefficient.
In 2012, the federal government announced it would create a rare disease framework to spur research into orphan drugs and give patients better information on how to access them. But many in the community are frustrated by the fact nothing has been implemented yet, Harkins said.
A Health Canada spokeswoman said the government is still working on the framework and hopes to see it implemented soon.
But a fundamental question remains: why are the prices of orphan drugs so high? According to drug manufacturers, the costs reflect the cost of research and development, clinical trials and the approval processes.
Others aren't so sure. Pharmaceutical companies don't open their books to demonstrate the cost of orphan drugs is an accurate reflection of development costs. Even if the prices are justified, should public plans be on the hook to help them recoup their costs?
"Basically, it's very expensive to make these drugs, but I think the collective view is 'It's very expensive, but come, on it's not that expensive,'" said Dr. Alex Mackenzie, a researcher and pediatrician at Ottawa's Children's Hospital of Eastern Ontario. "Is there room for a vigorous conversation around the pricing? Absolutely, I think there is."
Gagnon said Canada's drug pricing system has several flaws that need to be addressed before prices can come down. Other countries have a public listing of drug prices, which Canada bases its negotiations on. But those countries typically negotiate confidential rebates, meaning they don't actually ever pay the full price for the drug. But in many cases, Canada does, Gagnon said.
In a paper published in the journal Health Affairs last April, researchers from the University of British Columbia interviewed policy makers in nine developed countries and confirmed they typically negotiate confidential drug rebates with pharmaceutical companies. Canada, which has a mixture of public and private plans and leaves many provinces to negotiate prices on their own, has considerably less leverage to bargain for these discounts, the paper said.
"I understand patients want access to new drugs," Gagnon said. "But the role of government is to provide access to drugs that are shown to have real therapeutic benefits at a cost that is only reasonable."