Exploring the Personal Narratives of Patients with Autosomal Dominant Polycystic Kidney Disease: The NaMe-PKD Study

Background: For patients with chronic diseases, including autosomal dominant polycystic kidney disease (ADPKD), previous studies have shown that patients' disease progression, outcomes, and goals can be impacted by their illness perceptions. Specifically, in the case of genetic diseases, patients' perceptions may be shaped even before their own diagnoses by observing their family members' experiences with the disease. Few studies contrast patients’ perceptions of their genetic disease before and after their diagnoses and how this information may inform their management goals. Our study asks patients with ADPKD, specifically those who observed family members with the disease prior to their diagnosis, to reflect on the way their understanding of ADPKD pre-diagnosis may have influenced their experience post-diagnosis. Methods: This study was approved by the Social Behavioral Institutional Review Board. An IRB-approved questionnaire was administered in person with verbal responses from participants. Using a grounded theory approach, a thematic analysis of these transcribed interviews was performed. Results: While recruitment is ongoing, five participants have met inclusion criteria and have been interviewed. Men and women from ages 36 to 53 years old are represented. Thematic analysis led to the creation of three categories of themes: 1) Illness perception pre-diagnosis, 2) Illness perception initially post-diagnosis, and 3) Acceptance of the diagnosis. Illness perception pre-diagnosis entailed secrecy, surprise, and misinformation; post-diagnosis entailed a sense of isolation, denial, and guilt; and acceptance entailed inevitability and resilience. Conclusion: Patients expressed ideas of protective secrecy and sometimes misinformation surrounding the discussion of ADPKD before their diagnosis, with some mentioning the complete lack of discussion of the disease in their families and others equating ADPKD with dialysis. Furthermore, as patients came to terms with their diagnosis and related to their family members’ experiences, they described shifts in their attitude from denial and helplessness to later incorporating disease management into their lifestyle. Ultimately, we hope to use our findings to help clinicians more effectively approach conversations related to the trauma around the initial diagnosis of ADPKD.