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Disease Rarity, Carrier Status, and Gender: A Triple Disadvantage for Women with Fabry Disease

  • Original Research
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Journal of Genetic Counseling

Abstract

Fabry disease is a multi-systemic X-linked genetic disorder which has progressive and deadly consequences for those it afflicts. Fabry disease symptoms are widely recognized as a substantive burden for affected males. In comparison, female heterozygotes have traditionally been viewed as relatively symptom-free, though a debate continues about whether and how much they suffer with the disease. Previous research suggests that females with Fabry disease may be triply disadvantaged in healthcare settings owing to: (1) disease rarity, (2) devalued carrier status, and (3) gender. The combined effects of these three factors suggest that female heterozygotes may suffer substantially with Fabry disease symptoms. A qualitative analysis of a brief disease-specific questionnaire provides supportive evidence. The female Fabry disease participants described experiencing significant symptoms that interfered with their lives. They also described unsatisfying experiences with healthcare professionals related to disease rarity, carrier status, and gender. The results of this study corroborate the suggestion that this triple disadvantage exists and may preclude appropriate management and treatment of females with Fabry disease. The role of healthcare professionals, including genetic counselors, in remedying this disadvantage is reviewed.

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Acknowledgements

Funds to conduct this research were provided in part by a grant from Transkaryotic Therapies, Inc. awarded to Dr. Joe T. R. Clarke. Andrea Gibas was supported in part by a Fellowship from the Canadian Institutes of Health Research (CIHR) Strategic Training Program Grant, Pain: Molecules to Community and a CIHR Canada Graduate Scholarships Master’s Award. Joel Katz is supported by a Canada Research Chair in Health Psychology at York University.

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Gibas, A.L., Klatt, R., Johnson, J. et al. Disease Rarity, Carrier Status, and Gender: A Triple Disadvantage for Women with Fabry Disease. J Genet Counsel 17, 528–537 (2008). https://doi.org/10.1007/s10897-008-9179-7

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  • DOI: https://doi.org/10.1007/s10897-008-9179-7

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