With over 7,000 rare conditions already identified and dozens more being discovered every day, it is estimated that rare diseases impact 1 in 12 Canadians, two-thirds of whom are children. But each disease affects only a handful of individuals, so understanding and medical expertise are limited and uneven across the country. Many of these conditions are associated with lifelong, debilitating symptoms. The burden of each disease is felt not just by the patients but by those who care for them as well. National and provincial strategies are needed to relieve this burden for both groups.

The 2019 Canadian Impact of Rare Disease Survey found that, overwhelmingly, caregivers feel vulnerable, isolated and unsupported by Canada’s health care system. They often struggle to find the time and resources to meet their own needs as well as the needs of their loved ones. As a result, almost 90 percent of caregivers have experienced financial trouble due to their responsibilities; many miss six or more days of work a month or exit the workforce altogether. This leaves caregivers in financially stressful and potentially unstable situations, resulting in harm to their mental health, strained personal relationships and feelings of social isolation.

As a parent of two children with rare disorders, I understand how difficult and frustrating it can be to navigate the rare disease journey. A proper diagnosis can take years and can involve many misfires along the way. Support services are limited, disjointed and typically focused on specific diseases. There are very few specialists in each condition. There are no standards of care. There are few effective treatments.

Despite the growing need to support those affected by rare disease, Canada has yet to implement a national strategy that addresses key issues affecting the broader rare disease community. Although it prides itself on having an inclusive health care system, Canada lags behind many developed nations in adopting a framework for rare disease treatment and continues to delay the execution of a comprehensive approach to rare disease.

In its most recent budget announcement, the federal government pledged $1 billion over two years for the development of a strategy for high-cost rare disease drugs. This is certainly a step in the right direction, as access to innovative medicines is essential to improving the health and well-being of patients across the country.

But an effective strategy would go beyond funding treatments. According to Canada’s Rare Disease Strategy, a national plan developed in 2015 by the Canadian Organization for Rare Disorders (CORD) alongside government representatives, researchers, patient organizations and policy experts, there are five key areas in which support is most needed: diagnosis, expert care, research, community support and access to therapies.

The following year, this national model formed the basis of a rare disease strategy for Ontario. A working group of various stakeholders — from health care professionals to patient advocates — was established by the Ontario Ministry of Health. The recommendations from this Working Group led to the creation of the Ontario Rare Disease Strategy Implementation Plan, identifying five key priority areas. Although implementation did not take place last year, Ontario Health Minister Christine Elliott’s support for better access to rare disease services and treatment gives the community hope that change is imminent.

According to an announcement made by the Ontario government earlier this year, the province is undergoing one of the largest health system transformations in the country. The rare disease community is optimistic that the consolidation of health services under one “super-agency” will lead to a clearer health care path, more integrated care plans that align with patient needs and resources that help reduce the burden on caregivers. Now is the time to plan for a comprehensive, integrated and patient-centred rare disease program within this overarching agency.

How could provincial and national rare disease strategies address the needs of caregivers? Having early access to an accurate diagnosis will enable parents and other caregivers to implement appropriate disease management strategies as soon as possible to reduce, delay or prevent symptoms, thus improving quality of life for patients and caregivers. Moreover, helping patients navigate health system resources and access appropriate therapy will reduce the burden on caregivers. Finally, a comprehensive rare disease program should also ensure that resources are directed to caregivers, such as home care, respite care, psychosocial services and financial assistance.

The plight of rare disease caregivers is neither unique nor new, but it’s clear from the survey results that the impact on the community is near or at crisis proportions.

We need the realization of a national strategy and corresponding provincial strategies that are inclusive of the patient community, acknowledge the needs of everyone touched by rare diseases and address all facets of care. We need a plan to better coordinate efforts by governments and stakeholders involved in addressing the current challenges and ensuring that all people with rare disorders across the country can enjoy the same timely and high-quality health and social care as patients with more common diseases. Caregivers have been silently and unstintingly shouldering the burden of care, but as a society we can and we must take action now.

Photo: Shutterstock/By LumineImages

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Durhane Wong-Rieger
Durhane Wong-Rieger is president and CEO of the Canadian Organization for Rare Disorders and chair of the Consumer Advocare Network. She is also president and CEO of the Institute for Optimizing Health Outcomes.

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