Adams and Steele: Canada must act to fund drugs for rare diseases

Imagine going to the doctor’s office when you’re sick and getting diagnosed with a rare condition. You might feel scared about what comes next, you might be worried about how your life will be impacted, you could even feel relief for finally having a diagnosis.

Now imagine the prescription to treat this condition will cost you $100,000.

For most Canadians with rare diseases, this is their reality.

A disease is “rare” when it affects fewer than one in 2,000 people, according to the World Health Organization. Thousands of diseases fall under the WHO definition, with approximately three to six per cent of the population having a rare disease in their lifetime.

Often knowledge of these diseases is thin, with research dollars flowing to more prominent conditions. Patients wait an average of five years for a proper diagnosis due to the absence of knowledge on rare diseases. When they finally have a diagnosis, many patients feel even more worried and isolated, as they face barriers to access to therapies.

Zachary, a young man who lives with cystic fibrosis, was given hope when his specialist told him about the life-changing drug Trikafta. Cystic fibrosis severely damaged Zachary’s lungs, leaving him with a persistent cough, regular wheezing and the feeling that he was breathing through a straw every minute. He could no longer work. His lung function fell below 40 per cent, and he was put on the organ transplant list, taking stock of what life would be like for his wife and young son if he did not get new lungs.

Zachary got a new lease on life when he received short-term, compassionate access to Trikafta. His lung function began to climb, and he was removed from the transplant list. He could breathe more freely, started putting on weight and had more energy. Zachary was now well enough to consider returning to work.

But Zachary’s compassionate access has ended. If Zachary does not get coverage soon, he will have to stop taking Trikafta and likely end up back on the lung transplant list and unable to return to work, his family once again fearing that he might not live to get new lungs.

Not everyone has access to private and — this may come as a surprise — public insurance. Depending on where you live and your financial status, if you have private insurance or fail an income test, you may not qualify for public reimbursement unless you are willing to pay an annual deductible over and above what you already pay for private insurance. It sounds complicated and it is.

People who are very sick are slipping through the cracks, including Zachary, who is stuck between a private insurer that won’t pay and a public plan he can’t afford. Too many Canadians with rare diseases face prescription costs that are twice what the average Canadian makes in a year.

It’s not just about the cost; patients with rare diseases must wait an average of two years after a drug receives Health Canada approval until it may be covered by provincial drug plans — time they don’t have. If the wait weren’t bad enough, patients must hope that they live in the “right” province, one that will cover their treatment.

It doesn’t have to be this way. The federal government committed to funding a national strategy for drugs for rare diseases in 2019. This strategy could have seen the federal government, provinces and territories work together on a Canada-wide plan to make rare disease drugs available to patients.

While there have been many consultations and commitments, there has been little action. The United States has had legislation in place for drugs for rare diseases for 40 years, yet Canada can’t even come up with a common framework.

Historic investments are being made between federal, provincial and territorial governments. It’s time for them to deliver on the commitments they have already made in a substantial and concrete manner.

Now is the perfect time for governments to announce that they’re taking action for those with rare diseases. Folks like Zachary are relying on them.

John Adams is a board member, Best Medicines Coalition and co-founder and president, Canadian PKU & Allied Disorders. Kim Steele is a board member, Best Medicines Coalition and director, Government and Community Relations, for Cystic Fibrosis Canada.