Exploration of Traditional Life Events in Individuals With Friedreich's Ataxia: Implications for Genetic Counseling
By White VB, Leib JR, Farmer JM, Biesecker BB
Behav Brain Funct. 2010;6:65
Reviewed September 2011
Human development is a process of change, adaptation and growth. Throughout this process, transitional events mark important points in time when one's life course is significantly altered. This study captures transitional life events brought about or altered by Friedreich ataxia, a progressive chronic illness leading to disability, and the impact of these events on an affected individual's life course.
Forty-two adults with Friedreich's ataxia (18-65y) were interviewed regarding their perceptions of transitional life events. Data from the interviews were coded and analyzed thematically using an iterative process.
Identified transitions were either a direct outcome of Friedreich ataxia, or a developmental event altered by having the condition. Specifically, an awareness of symptoms, fear of falling and changes in mobility status were the most salient themes from the experience of living with Friedreich's ataxia. Developmental events primarily influenced by the condition were one's relationships and life's work.
Friedreich's ataxia increased the complexity and magnitude of transitional events for study participants. Transitional events commonly represented significant loss and presented challenges to self-esteem and identity. Findings from this study help alert professionals of potentially challenging times in patients' lives, which are influenced by chronic illness or disability. Implications for developmental counseling approaches are suggested for genetic counseling.
Review contributed by Jill Goldman, MS, MPhil, CGC
The White et al. report was a small descriptive qualitative study on life transitions of Friedreich's Ataxia (FRDA) patients. They conducted interviews of 42 patients to identify key transitions, factors that facilitated adaptation to change, and the role of health care providers. Patients reported that their major transitions were the recognition of symptoms, fear of falling, inability to do usual tasks, and need of assistive devices. These disease transitions exacerbated normal life transitions such as moving away from home, career choices, and relationships. At each transition, patients experienced loss, stigma, changes in self-image and self-esteem, and a need to redefine self-identity. In order to deal with these stages, people needed to re-establish their sense of normalcy.
Patients felt that many of their health care professionals did not have enough knowledge of FRDA to be of significant help in these transitional periods. Those who were helpful gave them the time and attention needed to listen to problems. The authors pointed out that genetic counselors could facilitate patients through giving genetic information in the context of a patient's daily life instead of limiting information to diagnosis and prognosis. They suggested that ongoing anticipatory guidance about transitions, as well as offering resources and referrals to other health professionals, such as physical and occupational therapists, would well serve these patients.
Although the study is of FRDA patients, the findings are pertinent to patients with many other movement disorders. Likewise, all health professionals, not just genetic counselors, should attend to their patients' transitional needs by offering anticipatory guidance, discussion of coping mechanisms for better adaptation, and by referrals to other professionals as needed.
About Jill Goldman, MS, MPhil, CGC
Jill Goldman is a genetic counselor at Columbia University Medical Center's Taub Institute for Research on Alzheimer's Disease and the Aging Brain, the Parkinson's Disease and other Movement Disorder's Center, and the Center for Neurogenetics. She counsels and does research on neurogenetic conditions. Her particular areas of interest are atypical dementias, especially frontotemporal dementia, and the ethical aspects of genetic testing and genetic research. She leads 2 support groups in conjunction with the Alzheimer's Association: a group for Early-stage dementia patients meeting at the Metropolitan Museum and a group for frontotemporal dementia caregivers.
Before coming to Columbia in the fall of 2007, she worked as a genetic counselor for the Memory and Aging Center at the University of California, San Francisco. In her life before genetic counseling, Jill was a science teacher and health educator, and served as the Health Education Coordinator at Brandeis University. Jill holds an MS in genetic counseling from the University of California, Berkeley and an MPhil in biology from Yale University.