Hostname: page-component-586b7cd67f-g8jcs Total loading time: 0 Render date: 2024-11-23T14:32:58.329Z Has data issue: false hasContentIssue false

323 Perceived Stress and Access to Care in Parents of Children Living a Diagnostic Odyssey in Puerto Rico

Published online by Cambridge University Press:  24 April 2023

Elinette M Albino
Affiliation:
School of Health Professions, Medical Sciences Campus, University of Puerto Rico
Karen Martinez
Affiliation:
University of Puerto Rico, Medical Sciences Campus
Simon Carlo
Affiliation:
Ponce Health Sciences University, Biochemistry Department and San Jorge Children & Women's Hospital, Genetic Section
Cristel Chapel-Crespo
Affiliation:
University Pediatric Hospital
Antonio Ortiz
Affiliation:
5School of Medicine, University of Puerto Rico
Alberto Santiago-Cornier
Affiliation:
Ponce Health Sciences University, School of Public Health and San Jorge Children & Women's Hospital, Genetic Section
Frances Velez-Bartolomei
Affiliation:
7San Jorge Children & Women's Hospital, Genetic Section
Carmen Buxo
Affiliation:
University of Puerto Rico, Medical Sciences Campus, School of Dental Medicine, Dental and Craniofacial Genomics Core
Rights & Permissions [Opens in a new window]

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

OBJECTIVES/GOALS: Diagnostic odyssey is the time it can take to a patient for receiving a diagnosis. Diagnostic process in rare diseases can be complex due to the heterogeneity of symptoms and lack of access to care. We aim to evaluate the association between diagnostic odyssey, perceived stress, and access to care, in parents of Puerto Rican patients with a rare disease. METHODS/STUDY POPULATION: We propose a cross-sectional study in parents of 100 children who received an uninformative whole exome sequencing (WES) report during a scheduled appointment with their geneticist. Discussion of WES results during clinical session, followed by a Perceived Stress Scale (PSS-10) and semi-structured interview to explore the experience of access to care during the diagnostic process will be arranged. Observation and interviews will be recorded. Data analysis and descriptive statistics will be calculated using STATA. Statistical associations (OR) will be estimated using generalized linear models at a 5% significance level. RESULTS/ANTICIPATED RESULTS: We expect to find high perceived stress in parents of Puerto Rican pediatric individuals having rare diseases, especially among single mothers. We will be able to identify limited access to care in Puerto Rico, especially in the testing pre-authorization process and long waits for geneticist appointments. Demand for advanced diagnostics is above the number of medical geneticists available in Puerto Rico, which triggers delayed diagnosis, management, and counseling. Therefore, these could affect the health disparities in our population with rare diseases. DISCUSSION/SIGNIFICANCE: This descriptive study will evaluate perceived stress in parents of pediatric patients living a diagnostic odyssey in Puerto Rico. No study has described perceived stress and access to care in this Hispanic population with undiagnosed conditions. Findings will contribute to a deep understanding of diagnostic process and limited access to care.

Type
Precision Medicine/Health
Creative Commons
Creative Common License - CCCreative Common License - BYCreative Common License - NCCreative Common License - ND
This is an Open Access article, distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is unaltered and is properly cited. The written permission of Cambridge University Press must be obtained for commercial re-use or in order to create a derivative work.
Copyright
© The Author(s), 2023. The Association for Clinical and Translational Science