Assessing the lived experiences of females with phenylketonuria in their health management

Introduction

The present study is a mixed-methods exploratory study aiming to understand the lived experiences of females with phenylketonuria (PKU) in managing their health. The study aims to identify what individual, interpersonal, and environmental factors serve as facilitators and inhibitors, and how PKU intrudes on different realms of health.

Methods

Attendees of Emory's Metabolic Camp and female users of Medical Nutrition Therapy for Prevention (MNT4P) were recruited. Participants were administered the Illness Intrusiveness Ratings Scale (IIRS) survey and qualitatively interviewed. The IIRS survey was analyzed using descriptive statistics and the interviews were coded and assessed using inductive and deductive analysis.

Results

In total, 25 participants were included in analysis (adults, n = 20; adolescents, n = 5). In the IIRS survey, diet had the highest average impact score of 5.74 (SD = 2.05) and religious expression had the lowest average impact score of 1.74 (SD = 1.65). The most salient themes that arose from the qualitative interviews were related to concerns of pregnancy (n = 25), interactions with health care providers relative to PKU care (n = 23) and independent of PKU care (n = 21), social support (n = 21) and isolation (n = 12), financial issues (n = 22), and illness intrusiveness on general health management (n = 22).

Discussion

Adolescent and adult female participants with PKU identified significant concerns in individual, interpersonal, and environmental factors affecting the management of their health. Additionally, the illness intrusiveness of PKU impacted their physical, mental, and gynecological health. Future research should further assess the unique challenges faced by females with PKU and potential interventions to better address these barriers.