Emotional experience in parents of children with Zellweger spectrum disorders: A qualitative study

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.

Perceived burden in dealing with different rare diseases: a qualitative focus group study

“…Specific for diseases usually emerging in childhood (neurofibromatosis type 1, Marfan syndrome) was parental behaviour perceived as overprotective and burden for patients’ parents. This is in line with other qualitative studies on parental experiences with paediatric rare diseases such as osteogenesis imperfecta,11 inherited metabolic diseases12 13 and Zellweger spectrum disorders14 from a caregivers’ perspective. In these studies, parents of affected children reported to experience concern, emotional stress and feelings of uncertainty and being overwhelmed, which stresses the need for support systems for caregivers of patients with paediatric rare diseases.…”

Coping with Wolf-Hirschhorn syndrome: quality of life and psychosocial features of family carers

“…Several studies have associated children’s age or illness duration with the negative psychosocial adjustment of caregivers [ 35 , 54 , 76 ]. Furthermore, research involving family carers indicates that sleep deprivation, feelings of guilt, loneliness and isolation are closely linked to well-being and QoL [ 70 , 79 – 83 ]. The caregivers in this study experienced this range of emotions, which are acknowledged as stressors that impact caregivers and can, at the same time, also affect a child’s QoL.…”

Coping with Wolf-Hirschhorn Syndrome: quality of life and psychosocial features of family carers

“…Several studies have associated children's age or illness duration with the negative psychosocial adjustment of caregivers [35,54,75]. Furthermore, research involving family carers indicates that sleep deprivation, feelings of guilt, loneliness and isolation are closely linked to well-being and QoL [69,[79][80][81][82][83]. The caregivers in this study experienced this range of emotions, which are acknowledged as stressors that impact caregivers and can, at the same time, also affect a child's QoL.…”