Understanding Adult Participant and Parent Empowerment Prior to Evaluation in the Undiagnosed Diseases Network.

Journal Article (Journal Article)

The burden of living with an undiagnosed condition is high and includes physical and emotional suffering, frustrations, and uncertainty. For patients and families experiencing these stressors, higher levels of empowerment may be associated with better outcomes. Thus, it is important to understand the experiences of patients with undiagnosed conditions and their families affected by undiagnosed conditions in order to identify strategies for fostering empowerment. In this study, we used the Genetic Counseling Outcome Scale (GCOS-24) to assess levels of empowerment and support group participation in 35 adult participants and 67 parents of child participants in the Undiagnosed Diseases Network (UDN) prior to their UDN in-person evaluation. Our results revealed significantly lower empowerment scores on the GCOS-24 in adult participants compared to parents of child participants [t(100) = - 3.01, p = 0.003, average difference = - 11.12, 95% CI (- 3.78, - 18.46)] and no significant association between support group participation and empowerment scores. The majority of participants (84.3%, 86/102) are not currently participating in any support groups, and participation rates were not significantly different for adult participants and parents of child participants (11.4 vs. 19.7%, respectively, FE p = 0.40). Open-ended responses provided additional insight into support group participation, the challenges of living with undiagnosed conditions, and positive coping strategies. Future research will evaluate the extent to which empowerment scores change as participation in the UDN unfolds.

Full Text

Duke Authors

Cited Authors

  • Palmer, CGS; McConkie-Rosell, A; Holm, IA; LeBlanc, K; Sinsheimer, JS; Briere, LC; Dorrani, N; Herzog, MR; Lincoln, S; Schoch, K; Spillmann, RC; Brokamp, E; Undiagnosed Diseases Network,

Published Date

  • September 2018

Published In

Volume / Issue

  • 27 / 5

Start / End Page

  • 1087 - 1101

PubMed ID

  • 29497923

Pubmed Central ID

  • PMC6132569

Electronic International Standard Serial Number (EISSN)

  • 1573-3599

Digital Object Identifier (DOI)

  • 10.1007/s10897-018-0228-6


  • eng

Conference Location

  • United States