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A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening

Pompe disease was added to the United States recommended uniform screening panel in 2015 to avoid diagnostic delay and implement prompt treatment, specifically for those with infantile-onset Pompe disease (IOPD). However, most newborns with abnormal newborn screening (NBS) for Pompe disease have lat...

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Autores principales: Crossen, Kaylee, Berry, Lisa, Myers, Melanie F., Leslie, Nancy, Goueli, Cecilia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326644/
https://www.ncbi.nlm.nih.gov/pubmed/35892473
http://dx.doi.org/10.3390/ijns8030043
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author Crossen, Kaylee
Berry, Lisa
Myers, Melanie F.
Leslie, Nancy
Goueli, Cecilia
author_facet Crossen, Kaylee
Berry, Lisa
Myers, Melanie F.
Leslie, Nancy
Goueli, Cecilia
author_sort Crossen, Kaylee
collection PubMed
description Pompe disease was added to the United States recommended uniform screening panel in 2015 to avoid diagnostic delay and implement prompt treatment, specifically for those with infantile-onset Pompe disease (IOPD). However, most newborns with abnormal newborn screening (NBS) for Pompe disease have late-onset Pompe disease (LOPD). An early diagnosis of LOPD raises the question of when symptoms will arise which is challenging for parents, patients, and providers managing an LOPD diagnosis. This study aimed to characterize mothers’ experiences of their child’s LOPD diagnosis and medical monitoring. A qualitative descriptive approach was chosen to gain an in-depth understanding of parental experiences. Eight mothers were interviewed about their experiences with positive NBS and diagnosis, experiences with living with the diagnosis, and experiences with medical monitoring. Interview transcripts were analyzed through conventional content analysis. Negative emotions like fear were more frequent with communication of NBS results. Participants expressed uncertainty surrounding age of symptom onset and the future. The medical monitoring experience increased worry but participants expressed that being vigilant with management reassured them. Parental emotions shifted to thankfulness and reassurance with time and education. These findings can provide guidance to providers about the psychosocial implications of receiving positive NBS results and an LOPD diagnosis.
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spelling pubmed-93266442022-07-28 A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening Crossen, Kaylee Berry, Lisa Myers, Melanie F. Leslie, Nancy Goueli, Cecilia Int J Neonatal Screen Article Pompe disease was added to the United States recommended uniform screening panel in 2015 to avoid diagnostic delay and implement prompt treatment, specifically for those with infantile-onset Pompe disease (IOPD). However, most newborns with abnormal newborn screening (NBS) for Pompe disease have late-onset Pompe disease (LOPD). An early diagnosis of LOPD raises the question of when symptoms will arise which is challenging for parents, patients, and providers managing an LOPD diagnosis. This study aimed to characterize mothers’ experiences of their child’s LOPD diagnosis and medical monitoring. A qualitative descriptive approach was chosen to gain an in-depth understanding of parental experiences. Eight mothers were interviewed about their experiences with positive NBS and diagnosis, experiences with living with the diagnosis, and experiences with medical monitoring. Interview transcripts were analyzed through conventional content analysis. Negative emotions like fear were more frequent with communication of NBS results. Participants expressed uncertainty surrounding age of symptom onset and the future. The medical monitoring experience increased worry but participants expressed that being vigilant with management reassured them. Parental emotions shifted to thankfulness and reassurance with time and education. These findings can provide guidance to providers about the psychosocial implications of receiving positive NBS results and an LOPD diagnosis. MDPI 2022-07-19 /pmc/articles/PMC9326644/ /pubmed/35892473 http://dx.doi.org/10.3390/ijns8030043 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Crossen, Kaylee
Berry, Lisa
Myers, Melanie F.
Leslie, Nancy
Goueli, Cecilia
A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening
title A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening
title_full A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening
title_fullStr A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening
title_full_unstemmed A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening
title_short A Qualitative Study: Mothers’ Experiences of Their Child’s Late-Onset Pompe Disease Diagnosis Following Newborn Screening
title_sort qualitative study: mothers’ experiences of their child’s late-onset pompe disease diagnosis following newborn screening
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326644/
https://www.ncbi.nlm.nih.gov/pubmed/35892473
http://dx.doi.org/10.3390/ijns8030043
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