Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan.

Aim: To extend nursing knowledge of distress experienced by family caregivers of children with rare genetic disorders, by exploring the perspectives of caregivers of children with Russell-Silver Syndrome in Taiwan.
Background: Caring for a child with a rare genetic disorder often has profound effects on families, especially when diagnosis and treatment is complex or not yet well developed, such as that in Russell-Silver Syndrome (or Silver-Russell syndrome). This disorder causes dwarfism and developmental difficulties, requiring long-term care planning. Previous research has focused mostly on medical care, but little is known about families' perspectives of caring difficulties, the help they need and nursing care required.
Design: An exploratory qualitative approach was used to inform this study.
Methods: Family caregivers, whose children were undergoing medical care in a leading Taiwan medical centre, were invited to participate in face-to-face, in-depth interviews. Data were analysed by content analysis.
Results: Fifteen caregivers including 11 mothers, two fathers and two grandmothers participated. Five major themes and 13 sub-themes of care-giving distress were identified: endless psychological worries; the lengthy process to confirm a medical diagnosis; adjustment efforts in modifying family roles; dilemmas in deciding between Western or Chinese traditional medicine; and negative responses to society's concerns. Their primary sources of support were spouses, parents and health professionals, accordingly.
Conclusion: Complex physio-psycho-social and decision-making distress in caring for children with a rare genetic disorder were systematically revealed from the perspectives of ethnic-Chinese family caregivers.
Relevance to Clinical Practice: Long-term care plans for children with a rare genetic disorder such as Russell-Silver Syndrome need to focus on positive dynamic family interactions, life-stage development and family caregiver support. Research on care-giving in rare genetic disorders is also warranted across cultures and countries to develop a substantial knowledge basis for nursing practice.
(© 2011 Blackwell Publishing Ltd.)