"Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome

(1) Background: Parents of children with rare diseases experience great uncertainty and employ different strategies to care for their children and cope with the disease. The purpose of the present study was to describe the perspective of parents with children with Phelan McDermid Syndrome (PMS). (2)...

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Detalles Bibliográficos
Autores: García-Bravo, Cristina, Palacios-Ceña, Domingo, Huertas-Hoyas, Elisabet, Pérez-Corrales, Jorge, Serrada-Tejeda, Sergio, Pérez-de-Heredia-Torres, Marta, Gueita-Rodríguez, Javier, Martínez-Piédrola, Rosa Mª
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Universidad Rey Juan Carlos
Repositorio:BURJC-Digital. Repositorio Institucional de la Universidad Rey Juan Carlos
OAI Identifier:oai:burjcdigital.urjc.es:10115/29290
Acceso en línea:https://hdl.handle.net/10115/29290
Access Level:acceso abierto
Palabra clave:Phelan-Mcdermid Syndrome
Telomeric 22q13 Monosomy Syndrome
parents
qualitative research
rare diseases
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spelling "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid SyndromeGarcía-Bravo, CristinaPalacios-Ceña, DomingoHuertas-Hoyas, ElisabetPérez-Corrales, JorgeSerrada-Tejeda, SergioPérez-de-Heredia-Torres, MartaGueita-Rodríguez, JavierMartínez-Piédrola, Rosa MªPhelan-Mcdermid SyndromeTelomeric 22q13 Monosomy Syndromeparentsqualitative researchrare diseases(1) Background: Parents of children with rare diseases experience great uncertainty and employ different strategies to care for their children and cope with the disease. The purpose of the present study was to describe the perspective of parents with children with Phelan McDermid Syndrome (PMS). (2) Methods: A non-probabilistic purposeful sampling was used to perform this qualitative descriptive study. Thirty-two parents with children with PMS were interviewed. In-depth interviews and research field notes were analyzed using an inductive thematic analysis. (3) Results: Four themes emerged from the data. "Understanding and accepting the disease" described how parents experienced their child's diagnosis and the lack of information. The second theme, called "Living day by day", highlighted the daily difficulties faced when caring for a child with PMS. The third theme, "Expectations versus reality", was based on the parents' expectations of parenthood and the reality they face. Expectations for the future are also included. Finally, "Pain and happiness" describes how parents alternate feelings of distress and suffering but also joy with what they learn from these experiences. (4) Conclusions: Health professionals can use these results to support parents.MDPI Children202420242022info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/10115/29290reponame:BURJC-Digital. Repositorio Institucional de la Universidad Rey Juan Carlosinstname:Universidad Rey Juan CarlosInglésAtribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:burjcdigital.urjc.es:10115/292902026-06-24T12:48:17Z
dc.title.none.fl_str_mv "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome
title "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome
spellingShingle "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome
García-Bravo, Cristina
Phelan-Mcdermid Syndrome
Telomeric 22q13 Monosomy Syndrome
parents
qualitative research
rare diseases
title_short "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome
title_full "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome
title_fullStr "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome
title_full_unstemmed "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome
title_sort "Your Life Turns Upside Down": A Qualitative Study of the Experiences of Parents with Children Diagnosed with Phelan-McDermid Syndrome
dc.creator.none.fl_str_mv García-Bravo, Cristina
Palacios-Ceña, Domingo
Huertas-Hoyas, Elisabet
Pérez-Corrales, Jorge
Serrada-Tejeda, Sergio
Pérez-de-Heredia-Torres, Marta
Gueita-Rodríguez, Javier
Martínez-Piédrola, Rosa Mª
author García-Bravo, Cristina
author_facet García-Bravo, Cristina
Palacios-Ceña, Domingo
Huertas-Hoyas, Elisabet
Pérez-Corrales, Jorge
Serrada-Tejeda, Sergio
Pérez-de-Heredia-Torres, Marta
Gueita-Rodríguez, Javier
Martínez-Piédrola, Rosa Mª
author_role author
author2 Palacios-Ceña, Domingo
Huertas-Hoyas, Elisabet
Pérez-Corrales, Jorge
Serrada-Tejeda, Sergio
Pérez-de-Heredia-Torres, Marta
Gueita-Rodríguez, Javier
Martínez-Piédrola, Rosa Mª
author2_role author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Phelan-Mcdermid Syndrome
Telomeric 22q13 Monosomy Syndrome
parents
qualitative research
rare diseases
topic Phelan-Mcdermid Syndrome
Telomeric 22q13 Monosomy Syndrome
parents
qualitative research
rare diseases
description (1) Background: Parents of children with rare diseases experience great uncertainty and employ different strategies to care for their children and cope with the disease. The purpose of the present study was to describe the perspective of parents with children with Phelan McDermid Syndrome (PMS). (2) Methods: A non-probabilistic purposeful sampling was used to perform this qualitative descriptive study. Thirty-two parents with children with PMS were interviewed. In-depth interviews and research field notes were analyzed using an inductive thematic analysis. (3) Results: Four themes emerged from the data. "Understanding and accepting the disease" described how parents experienced their child's diagnosis and the lack of information. The second theme, called "Living day by day", highlighted the daily difficulties faced when caring for a child with PMS. The third theme, "Expectations versus reality", was based on the parents' expectations of parenthood and the reality they face. Expectations for the future are also included. Finally, "Pain and happiness" describes how parents alternate feelings of distress and suffering but also joy with what they learn from these experiences. (4) Conclusions: Health professionals can use these results to support parents.
publishDate 2022
dc.date.none.fl_str_mv 2022
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://hdl.handle.net/10115/29290
url https://hdl.handle.net/10115/29290
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.rights.none.fl_str_mv Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv Atribución 4.0 Internacional
http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv MDPI Children
publisher.none.fl_str_mv MDPI Children
dc.source.none.fl_str_mv reponame:BURJC-Digital. Repositorio Institucional de la Universidad Rey Juan Carlos
instname:Universidad Rey Juan Carlos
instname_str Universidad Rey Juan Carlos
reponame_str BURJC-Digital. Repositorio Institucional de la Universidad Rey Juan Carlos
collection BURJC-Digital. Repositorio Institucional de la Universidad Rey Juan Carlos
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15.811543

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