Living with a rare disease
There are many different rare diseases, but those who are affected share common difficulties.
The rarity of these diseases creates particular challenges and needs for those affected, both in our health care system and in society at large:
- Delays in diagnosis
- Lack of information
- Lack of coordinated and appropriate quality care
- Presence of physical, mental, behavioral and/or sensory deficiencies, resulting in absence or loss of autonomy.
- Social consequences: living with a rare disease has an impact on studies, work, leisure, personal relationships, etc. There may be isolation, stigma, social exclusion and discrimination.
- Psychosocial burden for the entire family: the suffering of those affected and their families is often compounded by psychological despair and a lack of therapeutic hope.
- Difficulties in accessing social services: absent or insufficient paramedical resources and of practical support in daily life.
- Rarely are there effective treatments or cures: in some cases, symptoms can be treated to improve quality of life and longevity.
- Financial burden: an affected person is often unable to work and in the case of a child, a parent must leave their job to care for them.
- Inequalities in access to treatments and care: drugs not always reimbursed by public drug plans or private insurance.
Read the results of a survey done by the Canadian Organization for Rare Disorders: Experiences of Rare Disease Patients (February 2023)
Further reading:
Rare diseases are diverse and the people who are affected are diverse also.
Patient Voice is a platform for Canadians to share their health journeys. It contains a section dedicated to Canada’s Rare Voices.
Read the stories and testimonials of people affected by a rare disease, parents of affected children, and other caregivers. Stories about challenges, but also about getting support and hope for a better life because of new therapies.
These are organizations who work to improve the quality of life of individuals and families living with a rare disease in Canada:
And see all the hundreds of Canadian organizations who help patients with specific rare diseases in our Directory of Rare Disease Patient Organizations.