People and Families Affected by Glycogen Storage Disease Type Ia: An Analysis of Narrative Accounts Written by Individuals Living with GSDIa and Their Caregivers.

Abstract

Background: Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder that can lead to renal and hepatic complications, brain damage, and death. There is a lack of qualitative research describing the impact of GSDIa on individuals and their caregivers. Objective: This study was designed to describe the individual experiences of those affected by GSDIa through qualitative methods. Methods: Individuals with GSDIa and caregivers were recruited through two patient associations (US, UK). Participants were asked to write narratives about their experiences with GSDIa in their own words, with no set questions or topics. The resulting narrative accounts were analyzed thematically using a primarily inductive approach. Themes describing the impact of GSDIa on individuals and caregivers were identified. Results: Eight caregivers, three of whom had lost a child to GSDIa, and 11 individuals living with GSDIa provided written summaries of their experiences of life with the condition. Participants described symptoms, the burden of managing frequent cornstarch feeds, and the broader impacts of GSDIa. These included effects on daily activities, family, emotional and social functioning, romantic relationships, and educational/professional impacts. Participants also described challenges related to obtaining diagnosis and support, and the lack of GSDIa knowledge from healthcare professionals. Discussion: This study provided novel insights into the impact of GSDIa on individuals living with the condition and their caregivers. Participants reported a wide range of issues in their narratives and openly shared sensitive information about their experiences, which may not have been captured if they had taken part in a semi-structured interview format. Conclusion: The narrative method yielded a rich data set that provided details of the varied and individual experiences of GSDIa not captured by traditional quantitative methods or structured interviews. The narratives highlighted the unmet needs of both caregivers of and patients with GSDIa around cornstarch management, obstacles to proper treatment from healthcare professionals, and the absence of effective treatments. The open-ended narrative approach had advantages over standard qualitative methods to capture greater insight into individual experiences directly from participants in their own words.