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Journal of Genetic Counseling

, Volume 20, Issue 1, pp 70–79 | Cite as

More Appreciation of Life or Regretting the Test? Experiences of Living as a Mutation Carrier of Huntington’s Disease

  • Anette Hagberg
  • The-Hung Bui
  • Elisabeth Winnberg
Original Research

Abstract

Little is known about how the knowledge of being a mutation carrier for Huntington’s disease (HD) influences lives, emotionally and socially. In this qualitative study 10 interviews were conducted to explore the long term (>5 years) experiences of being a mutation carrier. The results showed a broad variety of both positive and negative impact on the carriers’ lives. The most prominent positive changes reported were a greater appreciation of life and a tendency to bring the family closer together. On the other hand, some participants expressed decisional regrets and discussed the negative impact this knowledge had on their psychological well-being. The knowledge variously served as either a motivator or an obstacle in pursuing further education, career or investment in personal health. Deeper understanding of people’s reactions to the certainty of knowing they will become affected with HD is essential for the genetic counseling team in order to provide appropriate support.

Keywords

Huntington’s disease Predictive testing Psychological impact Experience Genetic counselling Qualitative study 

Notes

Acknowledgments

We are grateful to all participants for participating in this study. We also thank Ms. Ulrika Almqvist for transcription of the interviews and translating the quotations of the participants into English. Dr. Anders Lundin is appreciated for his valuable comment about the design of the study. This work was supported by The Swedish Association for Persons with Neurological Disabilities.

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Copyright information

© National Society of Genetic Counselors, Inc. 2010

Authors and Affiliations

  • Anette Hagberg
    • 1
  • The-Hung Bui
    • 2
  • Elisabeth Winnberg
    • 3
    • 4
  1. 1.Department of Genetics and PathologyUppsala UniversityUppsalaSweden
  2. 2.Department of Clinical GeneticsKarolinska University HospitalStockholmSweden
  3. 3.Department of Neurobiology, Care Sciences and Society, Division of NursingKarolinska InstitutetStockholmSweden
  4. 4.Department of Health Care SciencesErsta Sköndal University CollegeStockholmSweden

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