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“Is it Going to Hurt?”: The Impact of the Diagnostic Odyssey on Children and Their Families

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

The pediatric diagnostic odyssey is a period of uncertainty and emotional turmoil for families, often characterized by multiple minor medical procedures (such as venipuncture) that children may find distressing. Interventions to reduce distress are rarely offered, despite evidence that this is crucial both for avoiding anticipatory anxiety before future procedures and for improving healthcare compliance in adulthood. We interviewed ten mothers of children with neuromuscular disorders, asking about their perceptions of their child’s experiences with different medical procedures, the emotional impact of the diagnostic odyssey, implications of obtaining a diagnosis, and interactions with healthcare providers. We coded interviews in ATLAS.ti (version 7.0) based on a priori and emergent themes, and analyzed them based on the principles of interpretive description. We found that predicting and assessing children’s reactions to procedures is challenging; parents reported non-invasive procedures such as x-rays were distressing for some children, and that providers did not detect subtle indicators of distress. Parents valued obtaining a diagnosis because it validated their concerns, enabled planning for the child’s future healthcare needs, and allowed access to established support networks. This study suggests that healthcare providers can improve the experience of the diagnostic odyssey by validating family concerns and connecting them to support services that are available without a diagnosis.

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Acknowledgments

Financial support for this study was provided by the Genetic Counseling Department and the Graduate School of Arts and Sciences at Brandeis University. Assistance in recruiting participants was provided by the Harvard Neuromuscular Disease Project at Boston Children’s Hospital. Special thanks to the ten study participants who took time from their incredibly busy lives to share their thoughts and experiences with us.

Conflict of Interest

Nikkola Carmichael, Judith Tsipis, Gail Windmueller, Leslie Mandel, and Elicia Estrella declare that they have no conflict of interest.

Human Studies and Informed Consent

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.

Animal Studies

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

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Authors and Affiliations

  1. Genetic Counseling Program, Biology Department, Brandeis University, Waltham, MA, USA

    Nikkola Carmichael

  2. Genetic Counseling Program, Biology Department, Brandeis University, Waltham, MA, USA

    Judith Tsipis

  3. Department of Child Life Services, Boston Children’s Hospital, Boston, MA, USA

    Gail Windmueller

  4. School of Nursing, Science and Health Professions, Regis College, Weston, MA, USA

    Leslie Mandel

  5. Department of Genetics & Genomics, Boston Children’s Hospital, Boston, MA, USA

    Elicia Estrella

Authors
  1. Nikkola Carmichael
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  2. Judith Tsipis
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  3. Gail Windmueller
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  4. Leslie Mandel
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  5. Elicia Estrella
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Correspondence to Nikkola Carmichael.

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Carmichael, N., Tsipis, J., Windmueller, G. et al. “Is it Going to Hurt?”: The Impact of the Diagnostic Odyssey on Children and Their Families. J Genet Counsel 24, 325–335 (2015). https://doi.org/10.1007/s10897-014-9773-9

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  • DOI: https://doi.org/10.1007/s10897-014-9773-9

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