Chronic Grief Is an Unmet Need for Families with Rare Inherited Cancer Syndromes: Living with and Dying from Li-Fraumeni Syndrome

Introduction: Li-Fraumeni Syndrome (LFS) is a rare inherited cancer predisposition syndrome associated with germline mutations in the TP53 gene. LFS is distinguished from hereditary breast and ovarian cancer (HBOC) syndrome by the wide range of primary tumor sites, common pediatric onset, the lack of data to support a clear management strategy (Mai et al 2012), and the significantly increased risk for a shortened lifespan even with aggressive preventative measures. The rarity and lack of visibility of families with LFS, and lack of clear information regarding diagnostic timing and prognoses contribute to substantial uncertainty regarding expectations and coping. Since cancer risk is elevated starting in infancy, the frequency of concurrent diagnoses both within and across generations in the same family leads may lead to ongoing, overlapping grief in multiple areas of family life. Grief associated with hereditary cancer syndromes remains largely unexplored, and mental health services tailored to the needs of families with rare, life-threatening genetic disease are nascent.

Methods: Forty-five family groups enrolled in the National Cancer Institute’s prospective Li-Fraumeni family cohort study completed one or more interviews during annual visits for cancer screening. A total of sixty-six semi-structured interviews were conducted with all attending family members together. Interviews elicited narratives about cancer experiences, perceptions of cancer risk and screening, the evolution of family structure and functioning, and coping. Using modified grounded theory, two members of the interdisciplinary team coded each interview. During weekly team meetings, coders used team debriefing, mentorship from experienced qualitative researchers, and the consensual qualitative methods to resolve discrepancies.

Findings: Over three quarters of families initiated discussion of diverse forms of grief during the interview. These families reported limited reprieve between cancer diagnoses and deaths, which often occurred simultaneously for multiple family members across generations and geographical distance. Consequently, participants lived with grief as an integral feature of family life. Extensive disease-related uncertainty created ambiguous losses for 25 families, with little guidance to interpret risk or prepare for the next change. Twenty-eight family groups reported anticipatory losses, shared expectations regarding predicted functional and emotional change resulting from a new cancer or death. For several families anticipating change prompted disengagement from cancer screening. Individuals from 33 families reported embodied loss, impairment to physical or aesthetic functioning due to cancer treatment or prevention. These types of grief occurred simultaneously, often went unacknowledged, and were often neither recognized nor discussed with social or provider networks. Nearly all families discussed unacknowledged losses, including survivor guilt, changes to identity, hoped-for life experiences, and altered reproductive plans.

Discussion/Implications: Family experiences with loss may warrant clinical attention over time, as opposed to solely at the time of screening or diagnosis. Traditional medical teams may lack capacity to address the complex psychosocial needs of families grieving LFS-related losses. Long-term engagement of mental health providers with bereavement and family systems training may provide invaluable support to families with LFS and facilitate ongoing engagement with providers.