The demands of biochemical genetic disorders: A survey of mothers of children with mitochondrial disease or phenylketonuria

Abstract

A telephone survey of mothers of children with mitochondrial disease (n = 29) or phenylketonuria (PKU) (n = 29) revealed that mothers of children with mitochondrial disease report greater stress and worry, less satisfaction with social supports, greater difficulty meeting their child's extra care needs, and more impact on multiple aspects of their personal lives. They also reported more missed days of work and used a greater number of health care services and personal resources. Interventions must be developed that address the demands of biochemical genetic disorders, particularly those with the uncertain trajectory of mitochondrial disease.