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

• DOI: 10.36469/jheor.2025.131811
• Publication Date: 2025-04-03T15:46:53Z
• Authors: Eliza Kruger; Hayley de Freitas; Iris Ferrecchia; Millie Gaydon; Andrew Lloyd
• Keywords: Genetic Disorders; Computer applications to medicine. Medical informatics; R858-859.7

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