Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders of the heme biosynthetic pathway resulting in the accumulation of protoporphyrin in the liver and plasma. Affected individuals present with painful, non-blistering severe photosensitivity typically beginning in childhood and are at increased risk for liver dysfunction. Previous research has shown that EPP negatively affects quality of life, but there is limited information on how parents manage the implications of their child's diagnosis. Perspectives of parents of children with EPP were explored through a series of online focus groups using GoToMeeting. Results of two focus groups analyzed thematically showed that EPP affects individuals', parents', and siblings' lives. While parents felt EPP does not limit their children's activities, it does affect how and when they are able to do certain activities. This warrants additional focus groups and further research on improved support and informational resources for both parents and their children.
展开▼
