Neurofibromatosis Type 1 and the “Elephant Man's” Disease: The Confusion Persists: An Ethnographic Study

BACKGROUND: During informal interviews in the course of an ethnographic study on intergenerational dialogue between individuals with neurofibromatosis and their parents, many members of Canadian neurofibromatosis associations stated they continue to be told the condition that afflicts them or their children is the “elephant man's” disease. Today, even though well established clinical criteria make it possible to diagnose and differentiate the two diseases, the confusion between NF1 and the disease of Joseph Merrick, the “elephant man”, persists in both media representations and those of physicians. The objective of this article is to document the persistence of this confusion, to identify the factors that contribute to it, and to identify its impact on the well being of individuals with NF1. METHODOLOGY: Preliminary stages of an ethnographic study. PRINCIPAL FINDINGS: Our findings show that some reference sources, past medical training, and print and online news media have all contributed to the persistence of the association between NF1 and the disease of Joseph Merrick, the “elephant man”. Our observations suggest that this misconception can have negative medical, social, and psychological impacts on patients and their families and thus increase the burden of the disease. CONCLUSIONS: Changes of attitude regarding medical teaching and the media could lead to definitively clearing up the confusion.