Benefits and Challenges of Different Qualitative Approaches in Rare Disease: A Case Study in Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Using a Narrative Exercise and Qualitative Interviews

OBJECTIVES: Qualitative research allows for the in-depth exploration of the impact of disease from a patient or caregiver perspective. Data collection can be challenging in rare diseases due to limited knowledge of the disease and the small pool of potential participants. This study explored the benefits and challenges of using multiple approaches to qualitative data collection using a case study in activated phosphoinositide 3-kinase delta syndrome (APDS).

METHODS: Two qualitative approaches were used to explore the impact of disease in APDS: a narrative exercise and qualitative interviews. First, participants were asked to write or audio-record an unstructured narrative account of their experience with APDS. In the interviews, participants were probed on the topics reported in the narrative exercise and asked semi-structured questions about their experience. Data were analyzed using content and thematic analysis.

RESULTS: Four individuals with APDS and five caregivers participated in the study. All participants provided written narrative accounts approximately 1-4 pages long. Topics reported included the arduous journey to diagnosis, and brief descriptions of clinical manifestations, symptoms, treatments, and health-related quality of life (HRQoL) impacts. Interviews elicited similar topics, but provided a more detailed exploration of symptomatic clinical manifestations (e.g., breathing and swallowing difficulty associated with enlarged tonsils), HRQoL impacts (e.g., hearing loss impacting on school) and treatments (e.g., time burden).

CONCLUSIONS: This study highlights the benefits of using multiple qualitative approaches in rare diseases. The narrative accounts identified new concepts that were important to individuals with APDS and their caregivers. The semi-structured qualitative interviews enabled details on these concepts to be expanded on and clarified. However, although all participants completed both components, a challenge could include increased participant burden due to the additional time required for both approaches which may have impacted recruitment. Therefore, it is important to remain flexible to participation across methods when recruiting.