title: Easing the Burden: Describing the Role of Social, Emotional and Spiritual Support in Research Families with Li-Fraumeni Syndrome.
abstract: 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.
authors.affiliation: Clinical Genetics Branch (CGB), Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), NIH, DHHS, Rockville, MD, USA. petersju@mail.nih.gov.
authors.forename: June A
authors.initials: JA
authors.lastname: Peters
authors.affiliation: Department of Sociology and Anthropology, The College of New Jersey, Ewing, NJ, USA.
authors.forename: Regina
authors.initials: R
authors.lastname: Kenen
authors.affiliation: Clinical Genetics Branch (CGB), Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), NIH, DHHS, Rockville, MD, USA.
authors.forename: Renee
authors.initials: R
authors.lastname: Bremer
authors.affiliation: Clinical Genetics Branch (CGB), Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), NIH, DHHS, Rockville, MD, USA.
authors.forename: Shannon
authors.initials: S
authors.lastname: Givens
authors.affiliation: Clinical Genetics Branch (CGB), Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), NIH, DHHS, Rockville, MD, USA.
authors.forename: Sharon A
authors.initials: SA
authors.lastname: Savage
authors.affiliation: Clinical Genetics Branch (CGB), Division of Cancer Epidemiology and Genetics (DCEG), National Cancer Institute (NCI), NIH, DHHS, Rockville, MD, USA.
authors.forename: Phuong L
authors.initials: PL
authors.lastname: Mai
mesh_terms: D000293:Adolescent; D000328:Adult; D005190:Family / Q000523:psychology*; D005260:Female; D016158:Genes, p53; D018095:Germ-Line Mutation; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics / Q000523:psychology*; D008297:Male; D008875:Middle Aged; D012944:Social Support; D013315:Stress, Psychological; D055815:Young Adult
keywords: Cegrm; Genetic counseling; Genetic testing; Hereditary cancer susceptibility; Li-fraumeni syndrome (LFS); Psychosocial; Psychosocial adaptation; Qualitative research; Religious; Resilience; Social support; Spiritual; TP53 germline mutation