Defining joy after a genetic diagnosis: A narrative inquiry

Research on patient and family experiences often focuses on the challenges associated with receiving a genetic diagnosis, including feelings of uncertainty, grief, and emotional distress. Positive or encouraging aspects of the diagnostic journey are less well described. This study aimed to identify and describe ways in which patients and their families experience joy after receiving a genetic diagnosis using a narrative methodology. Semi-structured interviews and field observations of family activities were performed with three families recruited from a pediatric genetics clinic. These methods of data collection enabled an in-depth exploration of personal stories in a natural setting as well as crystallization of the data. Interview transcripts and observation notes were inductively coded by two research team members. Through a process of re-storying, holistic codes were utilized to craft narratives of each family's journey from genetic diagnosis to joy. Overarching themes were identified that reflect the ways in which families constructed and articulated their experiences of joy. The results, presented in the form of narrative accounts and overarching themes, provide insight into how families find joy in their daily lives. Four themes were present in all family experiences: (1) focusing on the present, (2) embracing life, (3) redefining joy, and (4) normalizing their unique journey. Living in the present moment (Theme 1) allowed families to worry less about their child's future. Participating in as many activities as possible with their child enabled families to embrace life as a journey toward joy (Theme 2). Families redefined what joy meant for them (Theme 3); joy that was once found in social outings and time spent with friends evolved into simple moments of delight, like first words or their child's laugh. All three families described an amplification of joy when others outside the family normalized their experience by recognizing their child's presence and treating them with respect (Theme 4). These findings contribute to the understanding of how families adapt to and reframe their experiences after a genetic diagnosis, offering a richer and more nuanced understanding of the lived experiences of families. They also provide valuable perspectives for medical professionals seeking to provide holistic care.