title: Exploration of transitional life events in individuals with Friedreich ataxia: implications for genetic counseling.
abstract: 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.
authors.affiliation: Clinical Genetics, Carolinas Medical Center, Charlotte, NC 28232-2861, USA. Brook.White@carolinas.org
authors.forename: V Brook
authors.initials: VB
authors.lastname: White
authors.forename: Jennifer R
authors.initials: JR
authors.lastname: Leib
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Farmer
authors.forename: Barbara B
authors.initials: BB
authors.lastname: Biesecker
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001294:Attitude to Health; D002908:Chronic Disease; D005260:Female; D005621:Friedreich Ataxia / Q000235:genetics / Q000523:psychology*; D005817:Genetic Counseling / Q000379:methods*; D006801:Humans; D008016:Life Change Events; D008297:Male; D008875:Middle Aged