Journal of Genetic Counseling

, Volume 25, Issue 5, pp 1085–1092 | Cite as

Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study

  • Charlotte von der Lippe
  • Jan C. Frich
  • Anna Harris
  • Kari Nyheim Solbrække
Original Research

Abstract

Little is known about the experiences of women with Fabry disease. The aim of this study was to explore women’s experiences of being heterozygous for Fabry disease. We used an explorative qualitative study design and selected ten Norwegian women who were known heterozygous for Fabry disease to participate. We conducted in-depth semi-structured interviews and analyzed the interviews using inductive thematic analysis. We found that learning about one’s heterozygous status may be devastating for some. However, for most of the participants, heterozygous status, as well as doctors’ acceptance of symptoms in women heterozygous for Fabry disease, provided an explanation and relief. Although many women did not consider themselves ill, they wished to be acknowledged as more than “just carriers.” The participants were grateful for enzyme replacement therapy, although it had its burdens regarding time, planning, and absences from school or work. Women with Fabry disease felt that the lack of knowledge among healthcare professionals about Fabry disease was frustrating and worrisome. These findings suggest that healthcare professionals should acknowledge the different ways women react to their diagnosis, and be aware of the personal costs of receiving treatment.

Keywords

Experiences Heterozygous Fabry disease Psychosocial X-linked Genetic counseling 

Abbreviations

GLA

galactosidase alpha gene

GL-3

globotriaosylceramide

ERT

enzyme replacement therapy

QoL

quality of life

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Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  • Charlotte von der Lippe
    • 1
  • Jan C. Frich
    • 2
  • Anna Harris
    • 3
  • Kari Nyheim Solbrække
    • 2
  1. 1.Centre for Rare DisordersOslo University Hospital HFNydalenNorway
  2. 2.Institute of Health and SocietyUniversity of OsloBlindernNorway
  3. 3.Department of Technology and Society StudiesMaastricht UniversityMaastrichtThe Netherlands

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