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. 2025 Apr;16(2):117-130.
doi: 10.1007/s12687-024-00758-z. Epub 2025 Jan 6.

"I am sick, but that's not all that I am": patient perspectives on psychological adaptation over time to inborn errors of immunity

Breanna J Beers  1   2 , Hannah R Davidson-Swinton  3   4 , Katie L Lewis  1 , Michael R Setzer  1   5 , Magdalena A Walkiewicz  1 , Morgan N Similuk  6
Affiliations

"I am sick, but that's not all that I am": patient perspectives on psychological adaptation over time to inborn errors of immunity

Breanna J Beers et al. J Community Genet. 2025 Apr.

Abstract

Inborn errors of immunity (IEI) are rare heritable disorders of the immune system predisposing to atypical infections, autoimmunity, inflammation, and risk of malignancy. Adaptation is the process of incorporating stressful experiences into one's life; these experiences may include onset of illness, receiving a diagnosis, or suffering without a diagnosis. Poor adaptation is linked to adverse outcomes including psychiatric comorbidities and decreased well-being. Most people with chronic illnesses and rare diseases adapt to their condition with time, but little is known about how this happens. We seek to address this gap in knowledge by investigating features of successful adaptation to IEI over time to help providers facilitate this process among those who struggle. We interviewed 20 self-reportedly well-adapted adults with IEI about their experiences of adaptation. We identified three overarching themes. First, many participants grappled with shame and loss but ultimately integrated their illness into their lives through acceptance, gratitude, and self-compassion. Second, knowledge and choice contributed to participants' perceived control, but most participants were also forced to acknowledge the limits of that control when confronting unpredictable symptoms. Finally, social relationships could influence adaptation either positively or negatively. Notably, many participants found meaning in giving back to their communities, especially by educating others about their condition. Ultimately, participants showed that adaptation to life with IEI is complex and ongoing, requiring frequent recalibration to emerging challenges in new life stages. We provide recommendations to providers to help the results of this study shape their discussions with patients.

Keywords: Adaptation; Adjustment; Chronic; Immunodeficiency; Qualitative; Rare.

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Conflict of interest statement

Declarations: The authors declare no conflicts of interest. The opinions and assertions expressed herein are those of the author(s) and do not necessarily reflect the official policy or position of the Uniformed Services University, the Department of Defense, or the Department of Health and Human Services. Conflict of interest: The authors declare no competing interests. Compliance with ethics guidelines: 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.

Figures

Fig. 1
Fig. 1
Lack of understanding makes participants feel isolated through invisibility or hyper-visibility
See this image and copyright information in PMC

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