ArticleJournal of genetic counseling2016
Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.
Article in Journal of genetic counseling, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Quality of life of pediatric and adult individuals with osteogenesis imperfecta: a meta-analysis.Orphanet journal of rare diseases · 2023Pooled it
- Pooled it
- Living with a rare disorder: a systematic review of the qualitative literature.Molecular genetics & genomic medicine · 2017Pooled it
- Delivering effective genetic services for patients and families affected by cleft lip and/or palate.European journal of human genetics : EJHG · 2019Trial
- Patient-Centric Approach to Improve the Quality of Life and Healing Efficacy for Patients With Fabry Disease: A Grounded Theory-Based Analysis.Journal of Korean medical science · 2026Article
- Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondents.Molecular genetics and metabolism reports · 2025Article
- Quality of life and unmet needs in patients with fabry disease: a qualitative study.Orphanet journal of rare diseases · 2024Review
- Factors affecting overall care experience for people living with rare conditions in the UK: exploratory analysis of a quantitative patient experience survey.Orphanet journal of rare diseases · 2024Article
- Fabry Disease in Women: Genetic Basis, Available Biomarkers, and Clinical Manifestations.Genes · 2023Review
- An Ethics Action Plan for Rare Disease Care: Participatory Action Research Approach.Journal of participatory medicine · 2023Article
- Patient-reported outcomes measures of X-linked hypophosphataemia participants: findings from a prospective cohort study in the UK.Orphanet journal of rare diseases · 2023Article
- A survey on the patient journey in Fabry disease in Japan.Molecular genetics and metabolism reports · 2022Article
- Health-related quality of life in Norwegian adults with Fabry disease: Disease severity, pain, fatigue and psychological distress.JIMD reports · 2021Article
- Cognitive functioning and depressive symptoms in Fabry disease: A follow-up study.Journal of inherited metabolic disease · 2020Article
- Depressive symptoms in Fabry disease: the importance of coping, subjective health perception and pain.Orphanet journal of rare diseases · 2020Article
- The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene.Journal of genetic counseling · 2018Review
- "It was a lot Tougher than I Thought It would be". A Qualitative Study on the Changing Nature of Being a Hemophilia Carrier.Journal of genetic counseling · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
Identifiers
26948256What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.