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Understanding Rare Disease Experiences Through the Concept of Morally Problematic Situations

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In the very process of conducting this research study, our group of authors was exposed to several shocking and inadmissible problematic situations. In one of the saddest cases, a young person died from not having received appropriate and timely care at the time this study was conducted. We stand in solidarity with individuals living with rare diseases alienated from mainstream healthcare. We sincerely hope that such situations cease without delay and that the human impact of these conditions is fully recognized.

Abstract

Rare diseases, defined as having a prevalence inferior to 1/2000, are poorly understood scientifically and medically. Appropriate diagnoses and treatments are scarce, adding to the burden of living with chronic medical conditions. The moral significance of rare disease experiences is often overlooked in qualitative studies conducted with adults living with rare diseases. The concept of morally problematic situations arising from pragmatist ethics shows promise in understanding these experiences. The objectives of this study were to (1) acquire an in-depth understanding of morally problematic situations experienced by adults living with rare diseases in the province of Québec and (2) to develop an integrative model of the concept of morally problematic situations. To this end, an online survey targeting this population was developed through a participatory action research project. Respondents provided 90 long testimonies on the most important morally problematic situations they faced, often in healthcare settings. An integrative model was developed based on various qualitative analyses of these testimonies and relevant literature. The integrative model showcases that morally problematic situations have causes (i.e., contextual and relational factors, personal factors, jeopardized valuations), have affective repercussions (i.e., emotions and feelings, internal tensions), prompt action (i.e., through empowerment strategies leading to the evolution of situations), and elicit outcomes (i.e., factual consequences, residual emotions and feelings, positive or negative resolutions). In sum, this study advances understanding of the moral experiences of adults living with rare diseases while proposing a comprehensive conceptual tool to guide future empirical bioethics research on moral experiences.

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Data Availability

The datasets generated and analysed during the current study are not publicly available in order to protect respondents’ confidentiality.

Notes

  1. Since individuals living with rare diseases are often confronted to diagnostic delays, those who self-identified with having one or more undiagnosed rare disease(s) were welcomed to participate to the study (Molster et al., 2016).

  2. The results of the other survey sections are reported elsewhere (Quintal et al., unpublished work 2).

  3. In the Discussion, the numbers and letters in parentheses refer to their equivalents in Fig. 2.

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Acknowledgements

We would like to thank Pauline Lenfant-Koenig for formatting the manuscript. We would also like to thank Services de transcription Janie Babin for the transcription of recorded long testimonies. We thank members of the Pragmatic Health Ethics Research Unit for their insightful comments on this manuscript in addition to Christine Yergeau, Emilia Liana Falcone, Gail Ouellette, Alexandre Morin-Farcy, and Alex Galli for their input on the study design. We would like to thank all survey respondents for sharing their rich life experiences relating to their rare diseases.

Funding

This study was conducted with the support of doctoral research scholarships from the Canadian Institutes of Health Research and from the Fonds de recherche du Québec—Santé (AQ), by graduate student awards from Université de Montréal (AQ), and by a career award and grant from the Fonds de recherche du Québec—Santé (FRQ-S) (ER).

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Author notes

  1. Caroline Hébert, Isabelle Carreau, Annie-Danielle Grenier and Yves Berthiaume have contributed equally to this work.

Authors and Affiliations

  1. Pragmatic Health Ethics Research Unit, Institut de recherches cliniques de Montréal, 110 Pine Avenue West, Montréal, QC, H2W 1R7, Canada

    Ariane Quintal, Élissa Hotte & Eric Racine

  2. Département de médecine sociale et préventive, Université de Montréal, Montréal, QC, Canada

    Ariane Quintal & Eric Racine

  3. Ethics and Rare Diseases Working Group, Institut de recherches cliniques de Montréal, Montréal, QC, Canada

    Ariane Quintal, Élissa Hotte, Caroline Hébert, Isabelle Carreau, Annie-Danielle Grenier, Yves Berthiaume & Eric Racine

  4. Département de médecine, Université de Montréal, Montréal, QC, Canada

    Yves Berthiaume

  5. Division of Experimental Medicine, and Department of Neurology and Neurosurgery, Department of Medicine, McGill University, Montréal, QC, Canada

    Eric Racine

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  1. Ariane Quintal
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Contributions

AQ and ER designed most of the study and secured funding. AQ, ÉH, and ER analyzed the survey data. AQ was responsible for writing the manuscript. CH, IC, ADG, and YB significantly contributed to improving the study design, interpreting its results, and enriched the manuscript. All authors have approved the final manuscript. AQ and ER accept full responsibility for the finished work, had access to the data and controlled the decision to publish.

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Correspondence to Eric Racine.

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Competing interests

The authors have no relevant financial or non-financial interests to disclose.

Ethical Approval

This study was approved by the human subject ethics committee of our institution (2021-1080). It complied with the Standards on Research Ethics and Scientific Integrity of the Fonds de recherche du Québec—Santé and the Tri-Council Policy Statement 2—Ethical Conduct for Research Involving Humans of the Panel on Research Ethics of the Canadian government. Survey respondents gave informed consent before participating to the study.

Consent to Participate

Free and informed written consent was obtained from all survey respondents. The respondents have given written consent to the inclusion of material pertaining to themselves in the manuscript, acknowledging that they cannot be identified in the manuscript and that their statements are fully anonymized.

Standards of Reporting

The article is reported in accordance with the Standards for Reporting Qualitative Research of O’Brien et al. (2014).

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Quintal, A., Hotte, É., Hébert, C. et al. Understanding Rare Disease Experiences Through the Concept of Morally Problematic Situations. HEC Forum (2023). https://doi.org/10.1007/s10730-023-09511-4

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