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.
Highlights
In spite of the growing public awareness of the medical and social issues surrounding rare diseases (RDs) over the last two decades (Bavisetty et al 2013; Schieppati et al 2008), inequality in the distribution of heath care and ancillary support services remains a reality for RD patients (Barrera and Galindo 2010; Elliott and Zurynski 2015; Khangura et al 2016; Kole and Faurisson 2010)
The analysis of the discussions reveals that the impacts of receiving a diagnosis for RD patients are multifold, ranging from direct and indirect medical impacts to social and personal impacts
By Bmedical impacts^, we are referring to changes in medical care, treatment, and coordination of care when a person obtains a diagnosis
Summary
In spite of the growing public awareness of the medical and social issues surrounding rare diseases (RDs) over the last two decades (Bavisetty et al 2013; Schieppati et al 2008), inequality in the distribution of heath care and ancillary support services remains a reality for RD patients (Barrera and Galindo 2010; Elliott and Zurynski 2015; Khangura et al 2016; Kole and Faurisson 2010). Conflated with current health care resource allocation dilemmas, most test evaluations focus on clinical outcomes, thereby implying the necessity of having available and effective preventive or therapeutic options (Buchanan et al 2013; Bunnik et al 2014; Foster et al 2009).. Conflated with current health care resource allocation dilemmas, most test evaluations focus on clinical outcomes, thereby implying the necessity of having available and effective preventive or therapeutic options (Buchanan et al 2013; Bunnik et al 2014; Foster et al 2009).2 Such clinically driven criterion raises important issues regarding RD diagnosis, if one considers the particular situation and experiences of the RD community (Alonso et al 2011), and that numerous RDs currently lack treatment (EURORDIS 2009; Schieppati et al 2008). The issue is further exacerbated when considering public health care systems that face limited budget constraints and must balance individual and collective rights and interests
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