Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

We sought to assesses the impact of caring for children with ultra rare diseases (URDs) on family carers and to analyse the way these experiences differ among the caregivers of children diagnosed through prenatal or newborn screening, and those with symptom-based diagnosis. A total of 200 caregivers of 219 URDs children completed an on-line survey regarding the challenges and experiences of caregivers of URDs children. The majority of URD caregivers felt burdened by their children's health problems, emotional and behavioural changes. 46.5% reported feelings of care overload, 43% coped poorly with the stress, and many experienced a variety of feelings of distress towards the role of caregiver. While most caregivers struggled with the diagnostic odyssey and were dissatisfied with the healthcare services for URD children, caregivers of children diagnosed through prenatal or newborn screening were significantly less burdened than the parents of children with symptom-based diagnoses. Although caregivers of URDs children experience physical and emotional strain, they are often neglected by the healthcare system. A bio-psychosocial approach to URDs should therefore also include family caregivers' physical and psychosocial needs. Apart from financial and emotional support, enhancing access to genetic testing and newborn screening should be prioritised. • This study analyses the impact of caring for children with ultra rare disease (URD) on family carers. • URD caregivers felt burdened by children's health problems, emotional and behavioural changes. • Caregiving struggled with the diagnostic odyssey and healthcare services for URDs children. • Parents of screen-diagnosed children were less burdened than those with symptom-based diagnoses. • Enhancing access to genetic testing and newborn screening should be prioritised. [ABSTRACT FROM AUTHOR]