Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder affecting approximately 1/3000 individuals. Due to the high de novo rate (50%) of the condition, many children are born to parents with no prior knowledge of NF1. Internet searches for NF1 images typically uncover pictures depicting the most severe end of the disease spectrum which do not accurately represent the disorder for most individuals. This qualitative study aimed to gather insights from parents of children with a new diagnosis of NF1, who have no prior knowledge of the disease and have viewed internet images of affected individuals. This study, involved semi-structured interviews with 7 mothers of children with a recent diagnosis of NF1 that focused on their diagnostic stories, first encounters with internet images of NF1, sharing of the pictures with other individuals and advice for future parents of children with NF1. Study participants ranged in age from 30 to 40 years and their children were between 2 and 3 years old. The participants felt that parents should be advocates for their children, with four mothers proactively seeking out NF1 information on the internet. Viewing online images caused every participants to have negative feelings such as worry or heartbreak. Overall, these mothers found that internet images misrepresent the diagnosis; five felt the majority of the online images did not relate to their child and three felt the majority of online images did not relate to the NF1 population as a whole. The most memorable images for all participants were ones that represented very severe cases of NF1. All participants shared NF1 images with friends or family very selectively and viewed this as a personal choice, but felt their children should be introduced to the images with guidance at an age appropriate time. Advice for future parents of children with NF1 included seeking information from reputable sources and being aware that most people with NF1 are not as severely affected as the individuals depicted online. Insights from parents about their experiences with these can help healthcare providers, like genetic counselors, adequately address common concerns about NF1 images.