People and Families Affected By Gsdia: An Analysis of Narrative Accounts Written by Caregivers and Individuals Living with GSDIa

OBJECTIVES:

Glycogen Storage Disease Type Ia (GSDIa) is a rare, inherited disorder that can lead to renal and hepatic complications, brain damage, and death. Dietary management based on frequent cornstarch consumption can cause gastrointestinal and nutritional issues, sleep disruption, and psychosocial problems. This study was designed to describe the individual experiences of those affected by GSDIa through qualitative methods by asking patients and caregivers to provide written summaries of how the condition affects them.

METHODS:

Individuals with GSDIa and caregivers were recruited through two patient associations (USA, UK). Participants wrote about their experiences with GSDIa in their own words. The study was IRB-approved and participants provided written informed consent. The narratives were analyzed thematically using a primarily inductive approach. Themes describing the impact of GSDIa on individuals and caregivers were identified.

RESULTS: Eight caregivers (25 to >65 years) of nine living, three deceased children and 11 individuals living with GSDIa (18-54 years) provided written summaries of their experiences of life with GSDIa. Participants described symptoms, the burden of managing cornstarch feeds, and the broader impacts of GSDIa. These included impacts on daily activities, family, emotional and social functioning, romantic relationships, and educational/professional impacts. Participants also described challenges related to obtaining diagnosis/support, and the lack of GSDIa knowledge from healthcare professionals.

CONCLUSIONS:

The narrative method yielded a rich dataset 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, such as interviews, to capture a greater breadth of individual experiences.