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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\u2010depth semi\u2010structured 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\u2019 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 \u201cjust carriers.\u201d 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.<\/jats:p>","DOI":"10.1007\/s10897-016-9941-1","type":"journal-article","created":{"date-parts":[[2016,3,7]],"date-time":"2016-03-07T01:39:31Z","timestamp":1457314771000},"page":"1085-1092","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study"],"prefix":"10.1002","volume":"25","author":[{"given":"Charlotte","family":"von der Lippe","sequence":"first","affiliation":[{"name":"Centre for Rare Disorders Oslo University Hospital HF P.O. Box 4950, Rikshospitalet Nydalen Oslo 0424 Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan C.","family":"Frich","sequence":"additional","affiliation":[{"name":"Institute of Health and Society University of Oslo P.O. Box 1130 Blindern Oslo 0318 Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Harris","sequence":"additional","affiliation":[{"name":"Department of Technology and Society Studies Maastricht University P.O. Box 616 Maastricht 6200 MD The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kari Nyheim","family":"Solbr\u00e6kke","sequence":"additional","affiliation":[{"name":"Institute of Health and Society University of Oslo P.O. 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