The quality of life of people with rare inborn errors of metabolism and their caregivers

Abstract

A child’s disease, especially inborn and chronic disease, is a challenge for parents and it affects the quality of life of all family members. The paper presents research on attitudes towards the diagnosis and therapy in families of children with inborn errors of metabolism. The paper also describes problems and emotions that parents and patients have in their everyday life, as well as the priorities and needs of the family at particular stages of the child’s development. The analysis of attitudes towards the diagnosis and therapy makes it possible to develop methods of effective interventions that facilitate the implementation of therapeutic recommendations. The identification of factors affecting the quality of life in families of children with rare inborn errors of metabolism may contribute towards the development of programs to improve the quality of life of care-givers and patients with inborn diseases requiring chronic therapy.