Peering Down the Rabbit Hole: Living with von Hippel-Lindau Syndrome from the Young Adult Perspective

by Lindsay Schmidt

Institution: Brandeis University
Year: 2015
Keywords: von Hippel-Lindau syndrome (VHL); Young adults; Psychosocial; Uncertainty; Positive attitude; Support; Relationships; Life decisions; Childbearing; Genetic counseling
Record ID: 2058027
Full text PDF: http://hdl.handle.net/10192/30515


Von Hippel-Lindau syndrome (VHL) is a highly penetrant cancer susceptibility syndrome that requires rigorous surveillance and often involves surgery to remove VHL-related tumors throughout the body. Few studies have explored the psychosocial aspects of living with VHL and there is a lack of literature addressing the psychosocial challenges that young adults with VHL face as they encounter various transitions in their lives. To address this gap in the literature, this study focused on a cohort of ten young adults (18-26 years old) with VHL, whom all reside in the United States. All participants were recruited through the VHL Alliance. Semi-structured telephone interviews were conducted with each participant to gain an understanding of the experience of living with VHL as a young adult. The major topics that were addressed included personal and familial experiences with VHL, support systems, emotional well-being, the effect of VHL on romantic and familial relationships, and the effect of VHL on life decisions. Thematic analysis of the interview transcripts was performed in ATLAS.ti (v.7.5.4) and five themes were identified: (1) living with uncertainty, (2) maintaining a positive attitude, (3) significant means of support, (4) polarizing effect on relationships, and (5) impact on life decisions with respect to location, career path, and childbearing. These themes indicate that living with VHL as a young adult involves a considerable psychosocial component that extends beyond the well-studied physical aspects of the syndrome. Young adults with VHL would likely benefit from establishing a long-term relationship with a genetic counselor. Genetic counselors can help manage uncertainty, connect patients with other young adults living with VHL, and provide education regarding childbearing options. Further research with this population will likely help genetic counselors and other health professionals who care for VHL patients to provide better support and services to young adults living with VHL.