People with rare diseases need help

By Pamela Fralick

This article originally appeared on

One million Canadians — two-thirds of them children — suffer from rare diseases. Tragically, one-third of these children die before their fifth birthday. There are roughly 7,000 known rare diseases, and only five per cent have effective medicines.

Canadians with a rare disease are among the most vulnerable since there are often limited treatments available other than supportive care. When a new therapy that will address their health needs does come to market, these medicines are often very expensive and are less likely to be covered under most public and private drug benefit plans.

The good news is that this is changing. Around the world, rare diseases are becoming easier to diagnose and treat, courtesy of the widespread adoption of personalized medicine, and gene and cell therapies. Recent advances in biopharmaceutical research, combined with the use of artificial intelligence and “big data” are paving the way for important new treatments that will offer new hope for patients with previously untreatable conditions.

However, for too many Canadians, these treatments remain out of reach, due to accessibility and affordability barriers. A June 2018 survey by the Canadian Organization for Rare Disorders found that 78 per cent of rare disease patients experienced challenges accessing needed medicines, 70 per cent faced delays in securing necessary therapies and 58 per cent were denied access due to cost. A national rare disease strategy is long overdue.

Other countries have successfully implemented rare disease strategies through the collaborative efforts of governments, patients and industry. Scotland’s new program provides earlier access for patients to new medicines for a three-year period while gathering information on their effectiveness. Australia’s Life Saving Drugs Program provides fully subsidized access to essential medicines to eligible patients with rare and life-threatening diseases. In Germany, once a drug that treats a rare disease has been approved for sale in the European Union, its costs are covered up to a limit of €50,000 per patient per year.

Seventy-eight per cent of rare disease patients experienced challenges accessing needed medicines, 70 per cent faced delays in securing necessary therapies and 58 per cent were denied access due to cost.

The federal government is on the right track. A year ago, the House of Commons Standing Committee on Health detailed a road map for a better future for Canadians facing rare diseases, and made recommendations on a host of issues — drug approvals, pricing of drugs, how drug costs are reimbursed and access to diagnostic tests for rare diseases.

In Budget 2019, the federal government also promised to work with provinces, territories and other partners to “establish a national strategy for high-cost drugs for rare diseases.” Our industry can be one of those partners.

Our industry recognizes that patients and governments alike are challenged by the affordability of drugs needed to treat rare diseases, and we want to see our pharmaceutical discoveries lead to better patient outcomes. Families impacted by rare diseases face extraordinary challenges. It’s time that governments and industry come together with patients to create real change, and ensure that Canadians can access the treatments they need – and deserve.

We are a global industry which has worked successfully with governments around the world to develop and implement solutions that are helping patients with rare diseases. We are eager and ready to share our expertise with governments and other stakeholders in Canada, and to be part of a common effort to create better futures for Canadians with rare diseases.


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