Isolation and Connection of Emerging Adults with Rare, Genetic Disease: "We All Have Life Sentences and Mine Is Li-Fraumeni Syndrome"

Background and Purpose: Isolation is a critical social determinant of health associated with detrimental health behaviors, poor mental and physical health outcomes, and increasesd morbidity and mortality. Individuals and families with rare diseases often experience social isolation. Li-Fraumeni Syndrome (LFS) is a rare, inherited cancer predisposition syndrome with high, lifelong risk of multiple primary cancers across families starting in infancy, with median age at first cancer diagnosis of 36 years. LFS is characterized by limited prevention options, risk of early mortality, family-wide burden, and substantial uncertainty. The emerging adult (EA) years, ages 18-29, are also characterized by uncertainty regarding rapid developmental, social, and familial changes and the initiation of life-long health behaviors. These milestones are complicated among EAs with LFS (EA-LFS) because disease risk may affect normative developmental expectations, such as individuating from families of origin and expanding non-familial social networks. This study used a patient-centered approach to understand the intersection of EA’s social development and cancer risk management in the context of LFS.

Methods: An interprofessional team recruited twelve EAs from an IRB-approved longitudinal study of families with LFS. Participants completed two longitudinal, semi-structured interviews focused on individual and family cancer histories, experiences with health providers, activities of daily living, family and social networks, and existential perspectives regarding LFS. Interviews were recorded, transcribed verbatim, and coded using interpretive description. Then, a social work team developed a codebook related to social identity, time, and risk management to guide focused coding on participant’s paired transcripts. Rigor was ensured through multiple readings of each transcript, regular debriefing and developing consensus, triangulation with family pedigrees, and collaboration with medical experts.

Results: EA-LFS discussed having to “grow up faster” than peers due to anticipated disease- and treatment-related physical changes, expectations for a shortened lifespan, and time-consuming patient and family roles. Family histories, in combination with state-of-the-art knowledge about LFS, led EAs to temporally-bound understandings of LFS, which served as interpretive frames to manage disease related uncertainty. Thus, past personal and family cancer experiences informed present decisions about cancer risk management to prepare for future LFS-related outcomes. This “past-present-future” orientation, seen across the sample, ultimately increased social isolation as EAs implemented rigid health behavior schedules and constrained employment options to maintain insurance or economic stability. Additionally, participants distanced themselves from potentially supportive relationships by withholding genetic testing and cancer diagnostic information, particularly during acute uncertainty, to maintain their own well-being and to protect others from emotional distress. To combat isolation, many sought out connections with either select biological and chosen families or disease advocacy communities.

Conclusions and Implications: Rare, familial disease with life-long cancer risk presents unique challenges during the EA years. Decisions intended to maximize health and well-being over time may increase social isolation, leading to lower health-related quality of life during a period of normative, developmental social expansion and familial formation. Social work-led interprofessional teams, in partnership with disease-specific advocacy groups, are uniquely positioned to foster community-building and enhance social connection to reduce isolation for EA-LFS.