Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study
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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.
KeywordsExperiences Heterozygous Fabry disease Psychosocial X-linked Genetic counseling
galactosidase alpha gene
enzyme replacement therapy
quality of life
We thank the nurse at the Centre for Rare Disorders, Oslo University Hospital, Norway, and the Norwegian patient organization for Fabry disease for help in recruiting the participants. We thank the participants for sharing their experiences and insights.
Compliance with Ethical Standards
Conflict of Interest
Charlotte von der Lippe, Jan. C. Frich, Anna Harris and Kari Nyheim Solbrække declare that they have no conflict of interest.
Human Studies and Informed Consent
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.
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