Exploring the diagnostic journey of individuals and families with mitochondrial disease

dc.contributor.authorVas, Maria
dc.contributor.examiningcommitteeFrosk, Patrick (Pediatrics and Child Health)en_US
dc.contributor.examiningcommitteeChristian, Susan (Biochemistry and Medical Genetics)en_US
dc.contributor.examiningcommitteeHalas, Gayle (School of Dental Hygiene)en_US
dc.contributor.supervisorHartley, Jessica N.
dc.degree.disciplineBiochemistry and Medical Geneticsen_US
dc.degree.levelMaster of Science (M.Sc.)en_US
dc.description.abstractMitochondrial diseases (MtD) are amongst the most common inherited metabolic disorders, affecting approximately 1 in 5,000 individuals. The MtD diagnostic journey is often long and arduous due to the clinical and genetic heterogeneity of these conditions. Previous research on rare diseases shows that education, emotional support, and access to services are important to those navigating the diagnostic process. However, no studies to date have collectively assessed these needs specifically for MtD. Therefore, this study aimed to describe the diagnostic experience and explore in-depth the informational, psychological, and social needs of individuals and parents/caregivers of children with confirmed MtD. This study followed an embedded mixed-methods design, where participants completed surveys to detail their diagnostic journey and semi-structured interviews to delve deeper into these experiences. Seventeen affected individuals and parents/caregivers completed a survey, and twelve of these participants completed an interview. The diagnostic journey was conceptualized to unfold in stages, with the number of specialists consulted and time to diagnosis being less than initially anticipated. Providers, the Internet, and personal networks were key sources of information and support, while support organizations and groups were found to be the least accessed. Participants described needing more information and support throughout the diagnostic process. Information and support resources for MtD understandably became more available upon diagnosis. However, the general lack of knowledge surrounding MtD meant uncertainty remained post-diagnosis. Psychological consequences of the journey were significant and heavily intertwined with the desire for an answer. Social needs extended beyond the medical setting and were systematically unmet. Overall, participant needs evolved throughout the diagnostic journey and continued to change post-diagnosis. Foundational to the experiences and needs identified was the patient-provider relationship, mainly with genetics and neurology providers, which played a central role in how the journey was remembered and the extent to which participants felt supported. This study describes the complexities of the MtD diagnostic journey and highlights gaps in informational, psychological, and social supports. To improve the provision of MtD care, participant-driven recommendations focusing on assessment of needs and meaningful inclusion of patients and families in discussion and decision-making are presented.en_US
dc.description.noteOctober 2022en_US
dc.description.sponsorshipUniversity of Manitoba Genetic Counselling Program; National Society of Genetic Counselors Pediatric/Clinical Genetics Special Interest Group; National Society of Genetic Counselors Research Special Interest Group; National Society of Genetic Counselors Student/New Member Special Interest Groupen_US
dc.rightsopen accessen_US
dc.subjectmitochondrial diseaseen_US
dc.subjectdiagnostic journeyen_US
dc.subjectdiagnostic odysseyen_US
dc.subjectpatient-provider relationshipen_US
dc.titleExploring the diagnostic journey of individuals and families with mitochondrial diseaseen_US
dc.typemaster thesisen_US
oaire.awardTitleCanada Graduate Scholarship – Master (CGS-M)en_US
project.funder.nameCanadian Institutes of Health Researchen_US
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