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Waiting and “weighted down”: the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome

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Abstract

Li-Fraumeni Syndrome (LFS) is characterized by risk of multiple primary malignancies in diverse sites, pediatric onset, near complete penetrance by age 70 years, limited options for prevention, and substantial uncertainty regarding disease manifestation and prognosis. Forty-five families, including 117 individuals aged 13–81 years, enrolled in the US National Cancer Institute’s Li-Fraumeni Syndrome Study completed 66 interviews regarding their LFS experiences. An interdisciplinary team used modified grounded theory to examine family distress regarding expectations of loss and change due to likely cancer diagnoses, and the consequences of this likelihood across physical, social, and emotional domains. Disease-free periods were characterized by fearful anticipation of diagnosis or recurrence, uncertainty regarding post-treatment quality of life, and planning for shifts in family dynamics to enable caregiving. The chronicity of waiting for these changes incited dread and inhibited effective coping with the pragmatic, emotional, and existential challenges of the syndrome. Consequently, families reported high burden on roles and resources and limited guidance to prepare for, or achieve resolution with, grief. Anticipatory loss, the experience of bereavement prior to an expected change, distinguishes hereditary cancer risk from a sporadic diagnosis. Such grief is often incomplete in impact or meaning, subjected to rapid or profound change as conditions worsen, and poorly understood. In this study, losses were compounded by profound uncertainty, a chronic feature of LFS, which compromised mourning. Long-term engagement of mental health providers with bereavement training, in partnership with genetics providers, can provide invaluable educational and psychological support to families as they navigate these implacable challenges.

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Authors and Affiliations

  1. School of Social Policy and Practice, University of Pennsylvania, 3701 Locust Walk, Philadelphia, PA, 19104, USA

    Allison Werner-Lin & Shana L. Merrill

  2. Stanford Center for Biomedical Ethics, Stanford, CA, USA

    Jennifer L. Young

  3. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA

    Catherine Wilsnack, Mark H. Greene & Payal P. Khincha

  4. Hospital of the University of Pennsylvania, Philadelphia, PA, USA

    Shana L. Merrill

  5. Center for Genetic Medicine, Feinberg School of Medicine, Chicago, IL, USA

    Victoria Groner

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  1. Allison Werner-Lin
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  2. Jennifer L. Young
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  7. Payal P. Khincha
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Correspondence to Allison Werner-Lin.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee of The National Cancer Institute, NIH Protocol 11-C-0255, and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Werner-Lin, A., Young, J.L., Wilsnack, C. et al. Waiting and “weighted down”: the challenge of anticipatory loss for individuals and families with Li-Fraumeni Syndrome. Familial Cancer 19, 259–268 (2020). https://doi.org/10.1007/s10689-020-00173-6

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  • DOI: https://doi.org/10.1007/s10689-020-00173-6

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