Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome
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This study presents findings of a mixed-method descriptive exploration of the role of friends and spirituality/religiosity in easing the burden of families with the rare inherited disorder, Li-Fraumeni Syndrome (LFS). LFS is caused by germline mutations in the TP53 gene and is associated with very high lifetime risk of developing one or more malignancies. During the first clinical visit we assessed several types of social support among a subset of study participants (N = 66) using an established interactive research tool called the Colored Eco-Genetic Relationship Map (CEGRM). We performed both quantitative and qualitative analyses of social relationships with LFS family members and close non-kin. Distress scores (N = 59) were mostly low normal, with some outliers. We found that reported friendships varied widely, that the friendships were often deep and enduring, and were important sources of informational, tangible, emotional and spiritual support. Confidantes tended to be best friends and/or spouses. Organized religion was important in selected families, typically from mainstream traditions. However, a number of people identified themselves as “spiritual” and reported spiritual and humanist explorations. Our results shed preliminary light on how some people in families with LFS cope in the face of tremendous medical, social and emotional challenges.
KeywordsLi-fraumeni syndrome (LFS) TP53 germline mutation Hereditary cancer susceptibility Genetic counseling Genetic testing Social support Psychosocial Psychosocial adaptation Resilience Qualitative research Cegrm Religious Spiritual
We are especially grateful to the members of the families with LFS who participate in our studies and who freely offer their time and insights to helping us advance knowledge about this rare condition originally described over 45 years ago. We also thank our CGB colleagues Jennifer Young, Kate Rendle, Rosamma DeCastro, and Jennifer Loud for useful input and Westat colleagues Janet Bracci, Kathy Nichols, Nicole Dupree, Katie Beebe and all of the NCI LFS study team members for their important roles in the study.
Compliance with ethical standards
This research was supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics (DCEG) of the National Cancer Institute (NCI) and by contract # HHSN261201300003C with Westat.
Conflicts of Interest
June A. Peters, Regina Kenen, Renee Bremer, Shannon Givens, Sharon A. Savage and Phuong L. Mai declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.
No animal studies were carried out by the authors for this article.
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