TY - JOUR
T1 - Emotional experience in parents of children with Zellweger spectrum disorders
T2 - A qualitative study
AU - Bose, Mousumi
AU - Mahadevan, Meena
AU - Schules, Dana R.
AU - Coleman, Rory K.
AU - Gawron, Kelly M.
AU - Gamble, Melissa B.
AU - Roullet, Jean Baptiste
AU - Gibson, K. Michael
AU - Rizzo, William B.
N1 - Publisher Copyright:
© 2019 The Authors
PY - 2019/6
Y1 - 2019/6
N2 - 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.
AB - 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.
KW - Caregiver experience
KW - Coping
KW - Emotions
KW - Peroxisome biogenesis disorder
KW - Qualitative research
KW - Rare disease
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U2 - 10.1016/j.ymgmr.2019.100459
DO - 10.1016/j.ymgmr.2019.100459
M3 - Article
AN - SCOPUS:85061438100
SN - 2214-4269
VL - 19
JO - Molecular Genetics and Metabolism Reports
JF - Molecular Genetics and Metabolism Reports
M1 - 100459
ER -