Family Health Leaders: Lessons on Living with Li-Fraumeni Syndrome across Generations.

Pantaleao A1, Young JL2,3, Epstein NB1, Carlson M4, Bremer RC2, Khincha PP2, Peters JA2, Greene MH2, Roy K1, Achatz MI2, Savage SA2, Werner-Lin A4.

Author information

1: Department of Family Science, School of Public Health, University of Maryland, College Park, MD.
2: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD.
3: School of Medicine, Center for Biomedical Ethics, Stanford University, Stanford, CA.
4: School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA.

Abstract

in English, Chinese, Spanish

Li-Fraumeni Syndrome (LFS) is a hereditary disorder that confers an approximately 90% lifetime risk of cancer and requires comprehensive lifetime cancer screening. We explored healthcare roles for managing LFS-related cancer risks and treatments that were assumed by parents, adolescents, and adult children. Semi-structured interviews were conducted with 23 families. Family groupings were comprised of 2-5 members, with the younger generation in each family ranging in age from 7 to 40 years. Using grounded theory methods, we conducted open and focused coding of interview transcript content. Family members described how the role of health leader was implemented in their family, as well as factors such as maturation of a child or death of a member that determined who assumed particular roles and how these roles shifted over time. They often expressed collective responsibility for helping relatives understand LFS and implement appropriate cancer risk management. Members demonstrated their health role by attending others' medical appointments for support or information gathering. The health leader role was intergenerational and provided the family necessary support in navigating complicated healthcare decisions. Our findings provide insight into healthcare providers regarding how LFS patients and their relatives develop unique medical decision-making and caring roles influenced by the hereditary nature of LFS, and how these roles change over time. Providers who are attuned to family role dynamics may be better able to meet relatives' psychosocial and medical needs by understanding how living with LFS influences the family system's functioning and facilitating members' support for each other.

KEYWORDS:

Family; Hereditary Cancer; Li-Fraumeni Syndrome; Psychosocial; Roles; cáncer hereditario; familia; psicosocial; roles; síndrome de Li-Fraumeni; 作用; 家庭; 李-佛美尼综合症; 社会心理; 遗传性癌症