Journal of Genetic Counseling

, Volume 25, Issue 5, pp 1002–1009 | Cite as

“I Feel Lucky” – Gratitude Among Young Adults with Phenylketonuria (PKU)

  • Plata Sofie Diesen
Original Research


If persons with phenylketonuria (PKU) do not start a protein restricted diet in early infancy, they will suffer severe brain damage. Previous qualitative research on adults and adolescents with PKU has identified stigmatization, uncertain risk perceptions, considerable time spent on preparing food, and incongruence between the PKU diet and certain lifestyle demands. The aim of this study was to explore young and early treated Norwegian adults’ experiences, by conducting in-depth interviews in 2011 with 11 adults with PKU, aged 20–30. Being the first qualitative study on people with PKU in Norway, the process was inspired by grounded theory. All participants reflected on their own health and existence by expressing positive counterfactual thoughts. They considered themselves lucky to have had parents who had managed the diet, they were grateful for the time and place they were born, and for information and treatment availability, although the results also show some ambiguous attitudes towards the hospital which provided the treatment. The expression of gratitude in association with having PKU suggests a major positive coping strategy. It contributes to a more holistic understanding of the experiences and attitudes of young, Norwegian adults with PKU, as it provides a counterweight to the negative experiences.


Phenylketonuria PKU Rare disorders Lived experience Gratitude Coping mechanism Qualitative research 



I would like to express my gratitude to the participants in this study, who shared their personal thoughts and experiences and made the project possible. I thank my colleagues Charlotte von der Lippe, Ingrid Wiig and Susan Jane Sødal, who have been very helpful in the process, and a special thanks to Lena Fauske for her useful comments.

Compliance with Ethical Standards

Conflict of Interest

The author declares that she has no conflict of interest.

Human Studies and Informed Consent

All procedures performed in the study were in accordance with the ethical standards of the institutional and national research committee, and with the 1964 Helsinki declaration and its later amendments. Informed consent was obtained from all individual participants included in the study.

Animal Studies

No animal studies were carried out by the authors for this article.


  1. Becker, H. S. (1998). Tricks of the trade: How to think about your research while you’re doing it. Chicago: University of Chicago Press.CrossRefGoogle Scholar
  2. Budych, K., Helms, T. M., & Schultz, C. (2012). How do patients with rare diseases experience the medical encounter? Exploring role behavior and its impact on patient–physician interaction. Health Policy, 105(2–3), 154–164. doi: 10.1016/j.healthpol.2012.02.018.CrossRefPubMedGoogle Scholar
  3. Christ, S. E. (2003). Asbjorn Folling and the discovery of phenylketonuria. Journal of the History of the Neurosciences, 12(1), 44–54. doi: 10.1076/jhin. Scholar
  4. Di Ciommo, V., Forcella, E., & Cotugno, G. (2012). Living with phenylketonuria from the point of view of children, adolescents, and young adults: a qualitative study. Journal of Developmental and Behavioral Pediatrics, 33(3), 229–235. doi: 10.1097/DBP.0b013e3182460d8a.CrossRefPubMedGoogle Scholar
  5. Diesen, P. S., Wiig, I., Grut, L., & Kase, B. F. (2014). Betwixt and between being healthy and ill: the stigma experienced by young adults with phenylketonuria. Scandinavian Journal of Disability Research, 1–14. doi:  10.1080/15017419.2014.941003
  6. Eaton, R. J., Bradley, G., & Morrissey, S. (2013). Positive predispositions, quality of life and chronic illness. Psychology, Health & Medicine, 19(4), 473–489. doi: 10.1080/13548506.2013.824593.CrossRefGoogle Scholar
  7. Eijgelshoven, I., Demirdas, S., Smith, T. A., van Loon, J. M. T., Latour, S., & Bosch, A. M. (2013). The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands. Molecular Genetics and Metabolism, 109(3), 237–242. doi: 10.1016/j.ymgme.2013.05.003.CrossRefPubMedGoogle Scholar
  8. Emmons, R. A. (2007). Thanks!: How the new science of gratitude can make you happier. New York: Houghton Mifflin Harcourt.Google Scholar
  9. Frank, N., Fitzgerald, R., & Legge, M. (2007). Phenylketonuria--the lived experience. The New Zealand Medical Journal, 120(1262), U2728.PubMedGoogle Scholar
  10. French, M., & Smith, G. (2013). ‘Health’ surveillance: new modes of monitoring bodies, populations, and polities. Critical Public Health, 23(4), 383–392. doi: 10.1080/09581596.2013.838210.CrossRefGoogle Scholar
  11. Giddens, A. (1991). Modernity and self-identity: Self and society in the late modern age. Cambridge: Polity Press.Google Scholar
  12. Glaser, B. G. (1998). Doing grounded theory: Issues and discussions. Mill Valley: Sociology Press.Google Scholar
  13. Glaser, B. G., & Strauss, A. L. (1967). The discovery of grounded theory: Strategies for qualitative research. New York: Aldine de Gruyter.Google Scholar
  14. Grut, L., & Kvam, M. H. (2012). Facing ignorance: people with rare disorders and their experiences with public health and welfare services. Scandinavian Journal of Disability Research, 15(1), 20–32. doi: 10.1080/15017419.2011.645870.CrossRefGoogle Scholar
  15. Newman, S., Steed, L., & Mulligan, K. (2004). Self-management interventions for chronic illness. The Lancet, 364(9444), 1523–1537. doi: 10.1016/S0140-6736(04)17277-2.CrossRefGoogle Scholar
  16. Schieppati, A., Henter, J.-I., Daina, E., & Aperia, A. (2008). Why rare diseases are an important medical and social issue. The Lancet, 371(9629), 2039–2041. doi: 10.1016/S0140-6736(08)60872-7.CrossRefGoogle Scholar
  17. Seligman, M. E. P. (2008). Positive Health. Applied Psychology, 57, 3–18. doi: 10.1111/j.1464-0597.2008.00351.x.CrossRefGoogle Scholar
  18. Teigen, K. H. (1997). Luck, envy and gratitude: it could have been different. Scandinavian Journal of Psychology, 38(4), 313–323. doi: 10.1111/1467-9450.00041.CrossRefGoogle Scholar
  19. ten Hoedt, A. E., de Sonneville, L. M., Francois, B., ter Horst, N. M., Janssen, M. C., Rubio-Gozalbo, M. E., . . . Bosch, A. M. (2011). High phenylalanine levels directly affect mood and sustained attention in adults with phenylketonuria: a randomised, double-blind, placebo-controlled, crossover trial. Journal of Inherited Metabolic Disease, 34(1), 165–171. doi:  10.1007/s10545-010-9253-9
  20. The Norwegian Directorate of Health. (2011). Sjeldne diagnoser. 2014, from
  21. Trefz, F. K., van Spronsen, F. J., MacDonald, A., Feillet, F., Muntau, A. C., Belanger-Quintana, A., . . . Gasteyger, C. (2014). Management of adult patients with phenylketonuria: survey results from 24 countries. European Journal of Pediatrics. doi:  10.1007/s00431-014-2458-4
  22. Vegni, E., Fiori, L., Riva, E., Giovannini, M., & Moja, E. A. (2010). How individuals with phenylketonuria experience their illness: an age-related qualitative study. Child: Care, Health and Development, 36(4), 539–548. doi: 10.1111/j.1365-2214.2009.01000.x.Google Scholar
  23. Visser, M. (2009). The gift of thanks: The roots and rituals of gratitude. Boston: Houghton Mifflin Harcourt.Google Scholar
  24. Wood, A. M., Froh, J. J., & Geraghty, A. W. (2010). Gratitude and well-being: a review and theoretical integration. Clinical Psychology Review, 30(7), 890–905. doi: 10.1016/j.cpr.2010.03.005.CrossRefPubMedGoogle Scholar

Copyright information

© National Society of Genetic Counselors, Inc. 2016

Authors and Affiliations

  1. 1.Center for Rare DisordersOslo University HospitalOsloNorway
  2. 2.Center for Rare DisordersOslo Universitetssykehus HF, RikshospitaletOsloNorway

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