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

Carmichael, Nikkola; Tsipis, Judith; Windmueller, Gail; Mandel, L.; Estrella, Elicia

doi:10.1007/s10897-014-9773-9

Cited by 114 publications

(96 citation statements)

References 35 publications

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“…Indeed, a piece of information does not need to inform a course of action to be useful: having the knowledge of a diagnosis and ending a diagnostic odyssey can be invaluable to patients and families 101 (for a thorough perspective on the purpose of genetic testing for diagnoses, see REF. 102).…”

Section: Challengesmentioning

confidence: 99%

Integrative omics for health and disease

2018

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Advances in omics technologies — such as genomics, transcriptomics, proteomics and metabolomics — have begun to enable personalized medicine at an extraordinarily detailed molecular level. Individually, these technologies have contributed medical advances that have begun to enter clinical practice. However, each technology individually cannot capture the entire biological complexity of most human diseases. Integration of multiple technologies has emerged as an approach to provide a more comprehensive view of biology and disease. In this Review, we discuss the potential for combining diverse types of data and the utility of this approach in human health and disease. We provide examples of data integration to understand, diagnose and inform treatment of diseases, including rare and common diseases as well as cancer and transplant biology. Finally, we discuss technical and other challenges to clinical implementation of integrative omics.

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Section: Challengesmentioning

confidence: 99%

Integrative omics for health and disease

2018

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“…Parents of pediatric patients continue to struggle and make their way through the “diagnostic odyssey” of repeated clinical consultations and testing, with the purpose of finding information about their child’s long term health and recurrence risk information for the family [12]. In contrast, adults who have medically unexplained symptoms often feel that they need to continually legitimize their illness to medical providers and may find themselves in a situation where further diagnostic evaluation may not be offered to them [13, 14].…”

Section: Introductionmentioning

confidence: 99%

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Spillmann

McConkie‐Rosell

Peña

et al. 2017

Orphanet J Rare Dis

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BackgroundPatients’ stories of their illnesses help bridge the divide between patients and providers, facilitating more humane medical care. Illness narratives have been classified into three types: restitution (expectation of recovery), chaos (suffering and loss), and quest (unexpected positive effect from illness). Undiagnosed patients have unique illness experiences and obtaining their narratives would provide insights into the medical and emotional impact of living with an undiagnosed illness. Adults and children with undiagnosed diseases apply to be evaluated by the Undiagnosed Diseases Network (UDN). Written illness narratives from 40 UDN applicants, including 20 adult probands who applied for themselves and 20 parents who applied for their children, were analyzed for: 1) narrative content and 2) narrative type.Results Narrative content: could be grouped into three themes: 1) Expectations of the UDN: the majority felt they had no further healthcare options and hoped the UDN would provide them with a diagnosis, with the adults expecting to return to their previously healthy life and the parents wanting information to manage their child’s healthcare. 2) Personal medical information: the narratives reported worsening of symptoms and some offered opinions regarding the cause of their illness. The proband narratives had few objective findings, while parental narratives had detailed objective information. 3) Experiences related to living with their undiagnosed illness: frustration at being undiagnosed was expressed. The adults felt they had to provide validation of their symptoms to providers, given the lack of objective findings. The parents worried that something relevant to their child’s management was being overlooked. Narrative type: All the narratives were of the chaos type, but for different reasons, with the probands describing loss and suffering and the parents expressing fear for their child’s future. The parental narratives also had elements of restitution and quest, with acceptance of “a new normal”, and an emphasis on the positive aspects of their child’s illness which was absent from the probands.ConclusionsThese narratives illustrate the chaos that coexists with being undiagnosed. The differences between the proband and parental narratives suggest that these two groups have different needs that need to be considered during their evaluation and management.

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“…Parents of children with rare genetic diseases such as intellectual disability, neurodegenerative disorders, and/or epileptic encephalopathies, typically spend years searching for a diagnosis, causing emotional turmoil (Carmichael et al 2015; Graungaard and Skov 2006). This extensive search for a diagnosis is sometimes termed a “diagnostic odyssey,” that is, parents bring their children to different specialists, where they are subjected to myriad examinations and tests (Carmichael et al 2015).…”

Section: Introductionmentioning

confidence: 99%

“…This extensive search for a diagnosis is sometimes termed a “diagnostic odyssey,” that is, parents bring their children to different specialists, where they are subjected to myriad examinations and tests (Carmichael et al 2015). Despite all of these tests, a definitive diagnosis is reached in less than 50 % of cases.…”

Section: Introductionmentioning

confidence: 99%

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

Krabbenborg

Vissers

Schieving

et al. 2016

Journal of Genetic Counseling

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The use of whole exome sequencing (WES) for diagnostics of children with rare genetic diseases raises questions about best practices in genetic counselling. While a lot of attention is now given to pre-test counselling procedures for WES, little is known about how parents experience the (positive, negative, or inconclusive) WES results in daily life. To fill this knowledge gap, data were gathered through in-depth interviews with parents of 15 children who underwent WES analysis. WES test results, like results from other genetic tests, evoked relief as well as worries, irrespective of the type of result. Advantages of obtaining a conclusive diagnosis included becoming more accepting towards the situation, being enabled to attune care to the needs of the child, and better coping with feelings of guilt. Disadvantages experienced included a loss of hope for recovery, and a loss by parents of their social network of peers and the effort necessary to re-establish that social network. While parents with conclusive diagnoses were able to re-establish a peer community with the help of social media, parents receiving a possible diagnosis experienced hurdles in seeking peer support, as peers still needed to be identified. These types of psychosocial effects of WES test results for parents are important to take into account for the development of successful genetic counselling strategies.

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

Cited by 114 publications

References 35 publications

Integrative omics for health and disease

Integrative omics for health and disease

A window into living with an undiagnosed disease: illness narratives from the Undiagnosed Diseases Network

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

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