Journal of Genetic Counseling

, Volume 25, Issue 5, pp 1085–1092 | Cite as

Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study

  • Charlotte von der Lippe
  • Jan C. Frich
  • Anna Harris
  • Kari Nyheim Solbrække
Original Research


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.


Experiences 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.


  1. Album, D., & Westin, S. (2008). Do diseases have a prestige hierarchy? A survey among physicians and medical students. Social Sciences & Medicine, 66(1), 182–-188.Google Scholar
  2. Arends, M., Hollak, C. E., & Biegstraaten, M. (2015). Quality of life in patients with Fabry disease: a systematic review of the literature. Orphanet Journal of Rare Diseases, 10, 77. doi: 10.1186/s13023-015-0296-8.CrossRefPubMedPubMedCentralGoogle Scholar
  3. Braun, V. & Clarke, V. (2006). Using thematic analysis in psychology. Qualitative Research in Psychology, 3(2), 77–101.CrossRefGoogle Scholar
  4. Bury, M. (1982). Chronic illness as biographical disruption. Sociology of Health & Illness, 4(2), 167–182.CrossRefGoogle Scholar
  5. Charmaz, K. (1983). Loss of self: a fundamental form of suffering in the chronically ill. Sociology of Health & Illness, 5(2), 168–195.CrossRefGoogle Scholar
  6. Dures, E., Morris, M., Gleeson, K., & Rumsey, N. (2011). The psychosocial impact of epidermolysis bullosa. Qualitative Health Research, 21(6), 771–782.CrossRefPubMedGoogle Scholar
  7. Forrest, K., Simpson, S. A., Wilson, B. J., van Teijlingen, E. R., McKee, L., Haites, N., et al. (2003). To tell or not to tell: barriers and facilitators in family communication about genetic risk. Clinical Geneicst, 64(4), 317–326.CrossRefGoogle Scholar
  8. Forrest, L. E., Burke, J., Bacic, S., & Amor, D. J. (2008). Increased genetic counseling support improves communication of genetic information in families. Genetics in Medicine, 10(3), 167–172.CrossRefPubMedGoogle Scholar
  9. Frich, J. C., Malterud, K., & Fugelli, P. (2007). Experiences of guilt and shame in patients with familial hypercholesterolemia: a qualitative interview study. Patient Education and Counseling, 69(1–-3), 108–113.CrossRefPubMedGoogle Scholar
  10. Gele, A. A. & Harslof, I. (2010). Types of social capital resources and self-rated health among the Norwegian adult population. International Journal for Equity in Health, 9. doi: 10.1186/1475-9276-9-8.
  11. Germain, D. P. (2010). Fabry disease. Orphanet Journal of Rare Diseases, 5, 30. doi: 10.1186/1750-1172-5-30.CrossRefPubMedPubMedCentralGoogle Scholar
  12. Gibas, A. L., Klatt, R., Johnson, J., Clarke, J. T., & Katz, J. (2008). Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease. Journal of Genetic Counseling, 17(6), 528–537.CrossRefPubMedGoogle Scholar
  13. Goffman, E. (1963). Stigma: notes on the management of spoiled identity (1986 ed.). New York: Simon & Schuster, Inc..Google Scholar
  14. Guffon, N. (2003). Clinical presentation in female patients with Fabry disease. Journal of Medical Genetics, 40(4), e38. doi: 10.1136/jmg.40.4.e38.CrossRefPubMedPubMedCentralGoogle Scholar
  15. Hallowell, N. (1999). Doing the right thing: genetic risk and responsibility. Sociology of Health & Illness, 21(5), 597–621.CrossRefGoogle Scholar
  16. Helm, B. (2015). Exploring the Genetic Counselor’s Role in Facilitating Meaning-Making: Rare Disease Diagnoses. Journal of Genetic Counseling, 24(2), 205–212.CrossRefPubMedGoogle Scholar
  17. Hesse-Bieber, S., Dupuis, P., & Kinder, T. S. (1991). HyperRESEARCH: a computer program for the analysis of qualitative data with an emphasis on hypothesis testing and multimedia analysis. Qualitative Sociology, 14, 289–306.Google Scholar
  18. Inoue, T., Hattori, K., Ihara, K., Ishii, A., Nakamura, K., & Hirose, S. (2013). Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study. Journal of Human Genetics, 58(8), 548–552.CrossRefPubMedGoogle Scholar
  19. Jaeger, G., Rojvik, A., & Berglund, B. (2015). Participation in society for people with a rare diagnosis. Disability and Health Journal, 8(1), 44–50.CrossRefPubMedGoogle Scholar
  20. James, C. A., Hadley, D. W., Holtzman, N. A., & Winkelstein, J. A. (2006). How does the mode of inheritance of a genetic condition influence families? A study of guilt, blame, stigma, and understanding of inheritance and reproductive risks in families with X-linked and autosomal recessive diseases. Genetics in Medicine, 8(4), 234–242.CrossRefPubMedGoogle Scholar
  21. Kay, E. & Kingston, H. (2002). Feelings Associated with Being a Carrier and Characteristics of Reproductive Decision Making in Women Known to Be Carriers of X-linked Conditions. Journal of Health Psychology, 7(2), 169–181.CrossRefPubMedGoogle Scholar
  22. Laney, D. A., Bennett, R. L., Clarke, V., Fox, A., Hopkin, R. J., Johnson, et al. (2013). Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling, 22(5), 555–564.CrossRefPubMedGoogle Scholar
  23. Laney, D. A. & Fernhoff, P. M. (2008). Diagnosis of Fabry disease via analysis of family history. Journal of Genetic Counseling, 17(1), 79–83.CrossRefPubMedGoogle Scholar
  24. Lewis, C., Skirton, H., & Jones, R. (2012). Reproductive empowerment: the main motivator and outcome of carrier testing. Journal of Health Psychology, 17(4), 567–578.CrossRefPubMedGoogle Scholar
  25. Mechtler, T. P., Stary, S., Metz, T. F., De Jesus, V. R., Greber-Platzer, S., Pollak, A., et al. (2012). Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria. Lancet, 379(9813), 335–341.CrossRefPubMedGoogle Scholar
  26. Pajari, H. & Sinkkonen, J. (2000). Psychosocial impact of an X-linked hereditary disease: a study of Alport syndrome patients and family members. Child: Care, Health and Development, 26(3), 239–250.Google Scholar
  27. Sadek, J., Shellhaas, R., Camfield, C. S., Camfield, P. R., & Burley, J. (2004). Psychiatric findings in four female carriers of Fabry disease. Psychiatric Genetics, 14(4), 199–201.CrossRefPubMedGoogle Scholar
  28. Schiffmann, R., Kopp, J. B., Austin, H. A., et al. (2001). Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA, 285(21), 2743–2749.CrossRefPubMedGoogle Scholar
  29. Spada, M., Pagliardini, S., Yasuda, M., Tukel, T., Thiagarajan, G., Sakuraba, H.,.. . .. Desnick, R. J. (2006). High incidence of later-onset fabry disease revealed by newborn screening. American Journal of Human Genetics, 79(1), 31–-40.CrossRefPubMedPubMedCentralGoogle Scholar
  30. Stamm, T., Lovelock, L., Stew, G., Nell, V., Smolen, J., Machold, K., et al. (2009). I have a disease but I am not ill: A narrative study of occupational balance in people with rheumatoid arthritis. OTJR: Occupation, Participation and Health, 29(1), 32–39.Google Scholar
  31. Street, N. J., Yi, M. S., Bailey, L. A., & Hopkin, R. J. (2006). Comparison of health-related quality of life between heterozygous women with Fabry disease, a healthy control population, and patients with other chronic disease. Genetics in Medicine, 8(6), 346–353.CrossRefPubMedGoogle Scholar
  32. Tilden, B., Charman, D., Sharples, J., & Fosbury, J. (2005). Identity and adherence in a diabetes patient: Transformations in psychotherapy. Qualitative Health Research, 15(3), 312–324.CrossRefPubMedGoogle Scholar
  33. Van Manen, M. (1998). Modalities of body experience in illness and health. Quaitativel Health Research, 8(1), 7–24.CrossRefGoogle Scholar
  34. Wallenius, E., Möller, K., & Berglund, B. (2009). Everyday Impact of Having a Rare Diagnosis. A Questionnaire Study. Nordic Journal of Nursing Research, 29(3), 13–17.CrossRefGoogle Scholar
  35. Wang, R. Y., Lelis, A., Mirocha, J., & Wilcox, W. R. (2007). Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genetics in Medicine, 9(1), 34–45.CrossRefPubMedGoogle Scholar
  36. Wilcox, W. R., Oliveira, J. P., Hopkin, R. J., Ortiz, A., Banikazemi, M., et al. (2008). Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Molecular Genetetics and Metabolism, 93(2), 112–128.CrossRefGoogle Scholar
  37. Williams, J. K., & Schutte, D. L. (1997). Benefits and burdens of genetic carrier identification. Western Journal of Nursing Resarch, 19(1), 71–-81.Google Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  • Charlotte von der Lippe
    • 1
  • Jan C. Frich
    • 2
  • Anna Harris
    • 3
  • Kari Nyheim Solbrække
    • 2
  1. 1.Centre for Rare DisordersOslo University Hospital HFNydalenNorway
  2. 2.Institute of Health and SocietyUniversity of OsloBlindernNorway
  3. 3.Department of Technology and Society StudiesMaastricht UniversityMaastrichtThe Netherlands

Personalised recommendations