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Published on: August 20, 2019
Diagnosis of rare diseases under focus: impacts for Canadian patients
Daphne Esquivel-Sada1, Minh Thu Nguyen2
1Centre of Genomics and Policy, Faculty of Medicine, Department of Human Genetics, McGill University, 740 Dr. Penfield Ave., Montreal, QC, H3A 0G1, Canada. daphne.esquivel.sada@umontreal.ca.
Abstract:
This paper presents an in-depth qualitative analysis of the impact of diagnosis on the lives of rare disease (RD) patients. While diagnosis may be described as a watershed step for RD patients, no extensive account of non-medical outcomes following a RD diagnosis exists within the literature. This study aims to fill this knowledge gap through an analysis of the impact of diagnosis on the lives of RD patients according to their personal experiences. Qualitative research was conducted in three provinces across Canada, with a total of 23 participants, both adult and parents of children with RD, diagnosed and not yet diagnosed. A thematic approach guided the analysis of the transcripts. The results reveal that the impacts of a RD diagnosis for both adults and paediatric patients are multifold, ranging from social to personal and medical impacts (including cases where etiological treatments for the diseases are non-existent). Furthermore, the results shed light on distinct factors that affect the scope of impacts of a diagnosis.
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