Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling

Behavioral and Brain Functions 2010, 6:65doi:10.1186/1744-9081-6-65
Published: 27 October 2010

V Brook White1*, Jennifer R Leib 2, Jennifer M Farmer3, Barbara B Biesecker4
1Clinical Genetics, Carolinas Medical Center, PO Box 32861, Charlotte, NC 28232-
2861, USA
2HealthFutures, Washington, DC, USA
3Friedreich’s Ataxia Research Alliance, Exton, PA, USA
4National Human Genome Research Institute, National Institutes of Health,
Bethesda, MD, USA

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Background

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.
Methods

Forty-two adults with Friedreich 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.
Results

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 ataxia. Developmental events primarily influenced by the condition were one's relationships and life's work.
Conclusions

Friedreich 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.

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