Embodied risk for families with Li-Fraumeni syndrome: Like electricity through my body

Allison Werner-Lin; Rowan Forbes Shepherd; Jennifer L Young; Catherine Wilsnack; Shana L Merrill; Mark H Greene; Payal P Khincha

doi:10.1016/j.socscimed.2022.114905

Embodied risk for families with Li-Fraumeni syndrome: Like electricity through my body

Soc Sci Med. 2022 May:301:114905. doi: 10.1016/j.socscimed.2022.114905. Epub 2022 Mar 17.

Authors

Allison Werner-Lin¹, Rowan Forbes Shepherd², Jennifer L Young³, Catherine Wilsnack⁴, Shana L Merrill⁵, Mark H Greene², Payal P Khincha²

Affiliations

¹ School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA, USA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA. Electronic address: awer@upenn.edu.
² Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
³ Stanford Center for Biomedical Ethics, Stanford University, Stanford, CA, USA.
⁴ Steve Hicks School of Social Work, The University of Texas at Austin, Austin, TX, USA.
⁵ School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA, USA; Hospital of the University of Pennsylvania, Philadelphia, PA, USA.

Abstract

Introduction: Experiences of illness change the physical body and embodiments, or the ways in which the world and the self are known through the body. When illness is anticipated, such as with inherited cancer predisposition syndromes, risk becomes embodied and shared in family groups. Embodied risk is experienced whether or not symptoms have manifested. To examine how individuals and families with genetic risk experience the world and understand their disease through their bodies, we employ Li-Fraumeni syndrome (LFS) as an exemplar. LFS is a rare, genetic, cancer predisposition syndrome with nearly 100% lifetime cancer risk starting from birth, limited opportunities for prevention, rigorous screening protocols, and early mortality.

Methods: Forty-five families, including 117 individuals aged 13-81 years, enrolled in the National Cancer Insitute's LFS study (NCT01443468) completed 66 open-ended interviews regarding LFS experiences. An interdisciplinary team used modified grounded theory to explore physical aspects of living with LFS in psychosocial contexts.

Findings: The physicality of living with LFS included constant monitoring of LFS bodies across the family to identify physical change that might indicate carcinogenesis. Cancer screening, risk reduction, and treatment acted as dually protective and invasive, and as an unavoidable features of LFS. Connections between family members with similar embodiments normalized aesthetic changes and supported coping with visible markers of difference. In some circumstances, participants objectified the body to preserve the self and important relationships. In others, intense pain or loss created thresholds beyond which the self could no longer be separated from the body to support coping.

Discussion: This paper focuses on Li-Fraumeni syndrome, a familial condition with a well-established genetic identity in which the body-self is experienced in relation to important others, to medical imaging, and to historical experiences with cancer. We expand on theories of embodied risk and inter-embodiment to describe experiences across disease trajectories, with attention to division and union between body, self, and other.

Keywords: Cancer; Dis-embodiment; Embodiment; Family; Hereditary cancer; Li-Fraumeni syndrome; TP53.

Publication types

Research Support, N.I.H., Intramural

MeSH terms

Early Detection of Cancer
Electricity
Family
Genetic Predisposition to Disease
Humans
Li-Fraumeni Syndrome* / complications
Li-Fraumeni Syndrome* / diagnosis
Li-Fraumeni Syndrome* / genetics

Associated data

ClinicalTrials.gov/NCT01443468

Abstract

Publication types

MeSH terms

Associated data

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