Couples coping with screening burden and diagnostic uncertainty in Li-Fraumeni syndrome: Connection versus independence
Li-Fraumeni Syndrome (LFS) is an inherited tumor predisposition syndrome with lifetime cancer risks approaching 100% and evolving risk-management strategies. This study evaluated couples' coping with LFS-related burdens. Constructivist grounded theory and anticipatory loss frameworks guided design and analysis. Twenty-six individuals enrolled in the NCI LFS Family Study completed semi-structured interviews with their partner during annual screening visits. An interdisciplinary team completed open and focused coding to identify patterns of coping and adaptation. Couples described living with ambiguous danger, a state of chronic apprehension resulting from LFS-associated uncertainties. Most couples communicated openly and alternated shouldering the burden, while others engaged in protective buffering to shield each other from distress and sustain the appearance of normalcy. Optimally, coping reduces shared psychosocial distress, yet some strategies may inadvertently increase disconnection. Mental health support is critical for both partners coping with LFS, together and separately.