Choosing Between Medical Management and Liver Transplant in Urea Cycle Disorders - A Conceptual Framework for Parental Treatment Decision-Making in Rare Disease

Title

Choosing Between Medical Management and Liver Transplant in Urea Cycle Disorders - A Conceptual Framework for Parental Treatment Decision-Making in Rare Disease

Creator

Gerstein M T; Markus A R; Gianattasio K Z; Le Mons C; Bartos J; Stevens D M; Mew N A

Identifier

Publisher

Journal of Inherited Metabolic Disease

Date

2019

Subject

decision-making; liver transplant; qualitative research; treatment choice; Urea Cycle Disorders

Description

BACKGROUND: Urea cycle disorders (UCD) are rare inherited metabolic disorders caused by deficiencies of enzymes and transporters required to convert neurotoxic ammonia into urea. These deficiencies cause elevated blood ammonia, which if untreated may result in death, but even with optimal medical management, often results in recurrent brain damage. There are two major treatments for UCD: medical management or liver transplantation. Both are associated with mortality and morbidity but the evidence comparing outcomes is sparse. Thus, families face a dilemma: should their child be managed medically, or should they undergo a liver transplant? PURPOSE: To 1) describe the factors that contribute to treatment choice among parents of children diagnosed with UCD and to 2) organize these factors into a conceptual framework that reflects how these issues interrelate to shape the decision-making experience of this population. METHODS: Utilizing grounded theory, qualitative data was collected through semi-structured interviews with parents (N=35) and providers (N=26) of children diagnosed with UCD and parent focus groups (N=19). Thematic content analysis and selective and axial coding were applied. FINDINGS: The framework highlights the life-cycle catalysts that frame families' personal perceptions of risks and benefits and describes the clinical, personal, social, and system factors that drive treatment choice including disease severity, stability, and burden, independence, peer experiences, and cost, coverage and access to quality care. CONCLUSIONS: Findings equip providers with evidence upon which to prepare for productive patient interactions about treatment options. They also provide a foundation for the development of patient-centered outcome measures to better evaluate effectiveness of treatments in this population. This article is protected by copyright. All rights reserved.

Rights

Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).

Citation List Month

February 2020 List

Collection

Citation

Gerstein M T; Markus A R; Gianattasio K Z; Le Mons C; Bartos J; Stevens D M; Mew N A, “Choosing Between Medical Management and Liver Transplant in Urea Cycle Disorders - A Conceptual Framework for Parental Treatment Decision-Making in Rare Disease,” Pediatric Palliative Care Library, accessed October 18, 2021, https://pedpalascnetlibrary.omeka.net/items/show/16892.

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