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

Abstract

BackgroundDuring 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.MethodologyPreliminary stages of an ethnographic study.Principal FindingsOur 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.ConclusionsChanges of attitude regarding medical teaching and the media could lead to definitively clearing up the confusion.

The Epidemiology of Paediatric Brain Cancer — Descriptive Epidemiology and Risk Factors

“…Neurofibromatosis type 1 (NF-1) is the most common form of disease, affecting one in roughly 2500 to 5000 live births [64]- [66]. This renders it more than ten times more common than NF-2 [64], [65].…”

“…This renders it more than ten times more common than NF-2 [64], [65]. Though autosomal dominant, up to 50% of cases arise spontaneously from a gene mutation that occurs on chromosome 17q11.2, which encodes for a large protein called neurofibromin [ 64], [66]. This NF-1 gene is a classical tumor suppressor gene, with tumor growth requiring the loss of BOTH alleles.…”

Clinical and historical aspects of the Elephant Man: Exploring the facts and the myths

“…As a genetic disorder, one might expect to see other cases of NF1 in Merrick's family history to support his diagnosis. However, NF1 does have a surprisingly high sporadic mutation rate, with approximately 50% of cases being caused by a novel mutation (Légendre et al, 2011). The lack of family history is not therefore a complete contraindication to the neurofibromatosis theory.…”

“…It was first described by Cohen andHayden in 1979 (Alves et al, 2012), and named after the Greek god Proteus ('the polymorphous') by Wiedemann in 1983(Wiedemann et al, 1983. Due to its rarity, with an estimated incidence of fewer than 1 in 1,000,000 (Légendre et al, 2011), its diagnostic criteria has been slow to develop. The most recently devised diagnostic criteria were compiled by Biesecker (2006) (revised from a previous paper by the same author in 1999 (Biesecker, 2006)).…”

“…There was considerable confusion surrounding the diagnostic criteria (which is perhaps unsurprising considering fewer than 205 cases have been described in recent years) and the aetiology of the disease (Légendre et al, 2011). Proteus was thought to be due to a somatic mutation that was lethal when occurring in the germ line, which would explain the mosaic distribution of its effects (Lindhurst et al, 2011).…”