Abstract
Rationale
Phenylketonuria (PKU) is a metabolic condition that requires treatment for life. There is increasing evidence that chronic illnesses put strain on relationships and marriages. However, no studies have examined the unique factors that metabolic conditions have on affected individuals and their relationship satisfaction. We surveyed a population of adult patients with PKU and assessed how management, treatment, and lifestyle factors impact their relationship satisfaction.
Purpose
The purpose of our study was to explore whether factors such as involvement of partner in PKU management, impact of challenges unique to PKU (e.g., diet, family planning, mood disturbances), and PKU treatment types were associated with the degree of relationship satisfaction.
Method
We surveyed adult patients with PKU (n = 82) who were either currently in or had previously been in a long-term relationship. We developed a 78-question survey that included unique questions regarding lifestyle, treatment, and management of their PKU in addition to a validated Relationship Assessment Score. Questions included single choice, multiple choice, and 3 open-ended questions.
Results
We found that higher relationship satisfaction was associated with increased partner involvement, increased health, and adherence to recommended PKU treatments. Participants utilizing both diet and pharmaceutical treatment had the highest relationship satisfaction. Finally, participants who reported that their PKU did not contribute to the ending of a previous relationship reported higher relationship satisfaction scores.
Conclusion
This study suggests that involvement of partners in the management and treatment of a chronic illness and adherence to recommended treatments can significantly improve relationship satisfaction.
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Data availability
The datasets generated during and/or analysed during the current study are available from the corresponding author on reasonable request.
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Acknowledgements
The authors would like to thank the various support groups, the National PKU Alliance, and clinics that facilitated the distribution of the survey, as well as the patients with PKU who participated in the study. We would also like to acknowledge the Indiana University School of Medicine Genetic Counseling Graduate Program for providing funding for the gift card incentive. This work fulfilled a degree requirement for the first author, who was in training while the research was conducted.
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Rachel Sundstrom was responsible for the acquisition of funding, dissemination of recruitment materials, and the initial draft of the manuscript. Leah Wetherill provided data analysis and interpretation. Katie Sapp and Rachel Sundstrom conceptualized the project. All the authors were involved in the development of methodology, writing, reviewing, editing of the manuscript, and approval of the final draft.
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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 (5).
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Informed consent was obtained from all patients for being included in the study.
Conflict of interest
Melissa Lah is a primary investigator on clinical trials for PKU with BioMarin Pharmaceutical Inc., Homology Medicines Inc. and PTC Therapeutics. Melissa Lah also serves on Palynziq related advisory boards for BioMarin Pharmaceutical Inc.
Rachel Sundstrom, Leah Wetherill, Katie Sapp, and Molly McPheron declare that they have no conflict of interest.
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Sundstrom, R., Wetherill, L., Sapp, K. et al. Relationship satisfaction in adults with phenylketonuria is positively associated with following recommended treatment, having a partner involved in management, and maintaining good health. J Community Genet 14, 627–638 (2023). https://doi.org/10.1007/s12687-023-00667-7
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DOI: https://doi.org/10.1007/s12687-023-00667-7