Emotional experience in parents of children with Zellweger spectrum disorders

A qualitative study

Mousumi Bose, Meena Mahadevan, Dana R. Schules, Rory K. Coleman, Kelly M. Gawron, Melissa B. Gamble, Jean Baptiste Roullet, K. Michael Gibson, William B. Rizzo

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Zellweger spectrum disorders (ZSDs) are rare, debilitating genetic diseases of peroxisome biogenesis that require constant management and lifelong care. Nevertheless, the experience of family caregivers for children diagnosed with ZSD is not well understood. In this study, we sought to characterize the emotional experience of ZSD family caregivers. Three 90-min focus groups were conducted with thirty-seven parents (25 mothers and 12 fathers) of children with ZSD during a family advocacy conference. Focus groups were arranged by age of proband (Group 1: 0–4 years, Group 2: 5–10 years, Group 3: >11 years). Audio recordings of focus groups were transcribed and analyzed using software for coding purposes. Analyzed content was validated using peer debriefing, member checking, and method triangulation. Focus group results showed that nearly a third of ZSD caregivers described their overall emotional experience as a “rollercoaster.” Additionally, three interconnected themes were identified: 1) range of emotions, 2) stressors, and 3) coping. Feeling overwhelmed and devastated were the most frequently described emotional responses. Corresponding stressors to these emotions included the burden of caregiver tasks associated with ZSD, and negative interactions with healthcare professionals. The most common coping strategies were acceptance of limitations of the diseases, redefining “normal” in the parenting experience, and advocating on behalf of the child and the patient community. This study underscores the profound emotional impact on parents who are caregivers for children with ZSDs, highlighting the utility of patient community feedback and qualitative approaches to fully characterize the overall family experience. Simple, targeted approaches focusing on improved communication between healthcare professionals and families, as well as offering resources for emotional support may greatly improve the lives of families living with ZSD and other rare pediatric diseases.

Original languageEnglish
Article number100459
JournalMolecular Genetics and Metabolism Reports
Volume19
DOIs
StatePublished - 1 Jun 2019

Fingerprint

Zellweger Syndrome
Parents
Caregivers
Focus Groups
Emotions
Delivery of Health Care
Inborn Genetic Diseases
Peroxisomes
Parenting
Rare Diseases
Fathers
Software
Age Groups
Communication
Mothers
Pediatrics

Keywords

  • Caregiver experience
  • Coping
  • Emotions
  • Peroxisome biogenesis disorder
  • Qualitative research
  • Rare disease

Cite this

Bose, Mousumi ; Mahadevan, Meena ; Schules, Dana R. ; Coleman, Rory K. ; Gawron, Kelly M. ; Gamble, Melissa B. ; Roullet, Jean Baptiste ; Gibson, K. Michael ; Rizzo, William B. / Emotional experience in parents of children with Zellweger spectrum disorders : A qualitative study. In: Molecular Genetics and Metabolism Reports. 2019 ; Vol. 19.
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abstract = "Zellweger spectrum disorders (ZSDs) are rare, debilitating genetic diseases of peroxisome biogenesis that require constant management and lifelong care. Nevertheless, the experience of family caregivers for children diagnosed with ZSD is not well understood. In this study, we sought to characterize the emotional experience of ZSD family caregivers. Three 90-min focus groups were conducted with thirty-seven parents (25 mothers and 12 fathers) of children with ZSD during a family advocacy conference. Focus groups were arranged by age of proband (Group 1: 0–4 years, Group 2: 5–10 years, Group 3: >11 years). Audio recordings of focus groups were transcribed and analyzed using software for coding purposes. Analyzed content was validated using peer debriefing, member checking, and method triangulation. Focus group results showed that nearly a third of ZSD caregivers described their overall emotional experience as a “rollercoaster.” Additionally, three interconnected themes were identified: 1) range of emotions, 2) stressors, and 3) coping. Feeling overwhelmed and devastated were the most frequently described emotional responses. Corresponding stressors to these emotions included the burden of caregiver tasks associated with ZSD, and negative interactions with healthcare professionals. The most common coping strategies were acceptance of limitations of the diseases, redefining “normal” in the parenting experience, and advocating on behalf of the child and the patient community. This study underscores the profound emotional impact on parents who are caregivers for children with ZSDs, highlighting the utility of patient community feedback and qualitative approaches to fully characterize the overall family experience. Simple, targeted approaches focusing on improved communication between healthcare professionals and families, as well as offering resources for emotional support may greatly improve the lives of families living with ZSD and other rare pediatric diseases.",
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Emotional experience in parents of children with Zellweger spectrum disorders : A qualitative study. / Bose, Mousumi; Mahadevan, Meena; Schules, Dana R.; Coleman, Rory K.; Gawron, Kelly M.; Gamble, Melissa B.; Roullet, Jean Baptiste; Gibson, K. Michael; Rizzo, William B.

In: Molecular Genetics and Metabolism Reports, Vol. 19, 100459, 01.06.2019.

Research output: Contribution to journalArticleResearchpeer-review

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