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Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss

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JIMD Reports - Case and Research Reports, 2012/3

Part of the book series: JIMD Reports ((JIMD,volume 6))

Abstract

Objective: This study aimed to identify problems as experienced by adults with a mitochondrial disease. We chose to describe these problems from the patients’ perspective as we thought this would give optimal input for care improvement.

Design: A qualitative design using the grounded theory approach, involving single individual open interviews with 16 adults with a mitochondrial disease.

Results: This study revealed “loss” as the main concept, where one loss often preceded other losses. Respondents mentioned loss of energy as the most basic loss in having a mitochondrial disease, leading to multiple varied losses in all areas of daily life. Looking back, they mentioned psychosocial-spiritual problems and dealing with actual and expected future losses as most prominent and difficult. In our study, we determined seven comprehensive themes: “loss of energy”, “loss of independence and autonomy”, “loss of social participation”, “loss of personal identity”, “loss of dreams and future” as well as “lack of health care” and “coping and adjustment”.

Conclusions: In this first study on this theme, we developed a theory about patient’s losses related to mitochondrial disease. They experience a variety of problems in the physical, psychological, social and spiritual human domain. Patients experience a lack of health care and professional support as well. They use various strategies to manage their multiple losses and experience circumstances in which it is difficult to manage them effectively. The results can be used as a guide for improving health care, education and research and might result in an improved quality of life.

Competing interests: None declared.

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Abbreviations

MD(s):

Mitochondrial disease(s)

VKS:

Volwassenen en Kinderen met een Stofwisselingsziekte (adults and children with a metabolic disease).

VSN:

Vereniging Spierziekten Nederland (Association of Muscular Diseases Netherlands)

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Acknowledgements

Our grateful thanks go to the respondents who participated in this study and openly shared their experiences and thoughts. We also thank the patients associations VKS (Adults and Children with a Metabolic Disease) and VSN (Association for Myopathies – the Netherlands) for making their member list (VKS, VSN) and website (VKS) available. The study was funded by the Radboud University Nijmegen Medical Center in the Netherlands, the Department of Paediatrics of the Radboud University Medical Center and the author (GN).

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Correspondence to Greet Noorda .

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Appendices

A Concise 2–3-Sentence Summary

A qualitative study identifying problems of adults with a mitochondrial disease presented “loss” as the main theme, where mostly one loss preceded other losses. “Loss of energy”, “loss of independence and autonomy”, “loss of social participation”, “loss of personal identity”, “loss of dreams and future” and “lack of health care” and “coping and adjustment” were identified as the most important themes related to mitochondrial diseases.

Authors’ Contributions

Study design and planning: GN, TvA and LS, Data collection and analysis: GN, TvA, TvdH, Manuscript preparation: GN, TvA, TvdH, JS, LS, BvE, Manuscript revision: GN, TvA, TvdH, LS, BvE.

Guarantor for the Article

Name of one author who serves as guarantor for the article, accepts full responsibility for the work and/or the conduct of the study, had access to the data and controlled the decision to publish: GN

Competing Interests

All authors declare that in answer to all questions on the JIMD competing interest form they have nothing to declare.

Funding

The study was funded by the Radboud University Nijmegen Medical Center, the department Pediatrics of the Radboud University Medical Center and the researcher / author. All authors confirm that the article has not been influenced by the sponsors.

Ethic Approvals

The local medical ethics committee (CMO – Nijmegen / Arnhem) approved the study.

Informed Consent

All respondents gave written informed consent before participating in the interview.

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Noorda, G., van Achterberg, T., van der Hooft, T., Smeitink, J., Schoonhoven, L., van Engelen, B. (2012). Problems of Adults with a Mitochondrial Disease – The Patients’ Perspective: Focus on Loss. In: JIMD Reports - Case and Research Reports, 2012/3. JIMD Reports, vol 6. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2011_121

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  • DOI: https://doi.org/10.1007/8904_2011_121

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