Living with Genetic Disorder: The Impact of Neurofibromatosis 1

A description of the social, educational and economic impact of living with a neurological genetic disorder, neurofibromatosis 1. The many unpredictable and potentially stigmatizing possible symptoms of NF1, which range from physical disfigurements to severe learning disorders, may have serious consequences in every aspect of daily life. NF1 was for many years wrongly diagnozed as the Elephant Man’s Disease . The author examines the psychosocial costs of this misdiagnosis and the ways in which stage, screen and television parlayed The Elephant Man into the personification of the grimmest extreme of ugliness. This portrayal engendered fear and anxiety for affected persons and their families and also had an impact on the scientific and medical communities. This work examines the factors that affect individuals’ positive adaptation to NF1 and the demands of American society, and offers suggestions for families, support systems and health care providers for treatment of affected individuals.