title: Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.
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.
authors.affiliation: Centre for Rare Disorders, Oslo University Hospital HF, Rikshospitalet, P.O. Box 4950, 0424, Nydalen, Oslo, Norway. uxhelc@ous-hf.no.
authors.forename: Charlotte
authors.initials: C
authors.lastname: von der Lippe
authors.affiliation: Institute of Health and Society, University of Oslo, P.O. Box 1130, 0318, Blindern, Oslo, Norway.
authors.forename: Jan C
authors.initials: JC
authors.lastname: Frich
authors.affiliation: Department of Technology and Society Studies, Maastricht University, P.O. Box 616, 6200 MD, Maastricht, The Netherlands.
authors.forename: Anna
authors.initials: A
authors.lastname: Harris
authors.affiliation: Institute of Health and Society, University of Oslo, P.O. Box 1130, 0318, Blindern, Oslo, Norway.
authors.forename: Kari Nyheim
authors.initials: KN
authors.lastname: Solbrække
mesh_terms: D000328:Adult; D000368:Aged; D000795:Fabry Disease / Q000235:genetics / Q000523:psychology*; D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009664:Norway; D036301:Qualitative Research; D011795:Surveys and Questionnaires; D055815:Young Adult
keywords: Experiences; Fabry disease; Genetic counseling; Heterozygous; Psychosocial; X-linked