IMPACT study: measuring the impact of caregiving on families and healthcare professionals of children and adults living with mucopolysaccharidoses in Ireland.

Mucopolysaccharidoses (MPS) is a group of one of the many rare inherited metabolic disorders that come under category three of life-limiting conditions. Children born with this genetic condition show no change at birth, but effects start to show in subsequent years as it is a progressive disease. The severity of the condition varies according to the specific type, ranging from very mild symptoms to, in most cases, multisystemic, restricted growth or mental and physical disabilities. Recent developments in treatments for some forms of MPS have dramatically changed the quality of life (QoL) for patients. Other forms of treatment are currently under investigation and development. This study aimed to provide a detailed and reliable evidence base on the impact of caregiving for patients living with MPS on family caregivers and healthcare providers. Paper questionnaires were completed by the family caregivers of children and adults living with MPS. These three questionnaires focused on measuring QoL, parental stress and anxiety, and resilience among these families. Two focus group interviews were carried out with healthcare professionals working with children and adults living with MPS across three clinical sites in Ireland.A total of 31 parents completed the questionnaires in this study, indicating a significantly high QoL and notably high resilience. The majority of the parental stress results were related to concern for the future, with just half of the families finding themselves very often scared that their child's condition will deteriorate or that their child will die and find these thoughts very difficult. The healthcare providers also spoke about the complexity of MPS, coping strategies, managing expectations and support services for the families of children and adults living with MPS. This study provided evidence for clinicians and policymakers to improve the availability of appropriate healthcare provisions for people living with MPS and their families.