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Joseph Merrick, the Elephant Man, was previously thought to have neurofibromatosis but was later determined to have Proteus syndrome. Neurofibromatosis is a real disease that causes tumors on nerves and bone deformities. There are two types, with NF1 being less severe and NF2 being more severe and affecting hearing and brain function. Most people with NF1 can live normal lives, and support groups are available.
When people talked about the Elephant Man, Joseph Merrick, in the early 1980s, the general consensus was that he had neurofibromatosis. Subsequent examinations of his case and even his skeleton led experts to determine that he likely had a mysterious disease called Proteus syndrome. However, neurofibromatosis is also a real disease that causes tumors to grow on nerves, as well as other abnormalities.
There are two types of neurofibromatosis. NF1 is the less severe version of the disease and occurs in approximately one of every 4,000 births. It is often diagnosed early by the presence of “café au lait” spots on the skin. Neurofibromas are usually small and can be removed if they cause cosmetic disfigurement or if they put pressure on vital organs.
NF1 patients can also sometimes have childhood scoliosis or other bone deformities. However, most people with neurofibromatosis type I will live normal lives, and many will have few, if any, problems related to the disorder. Some children will have seizures when they are young, or perhaps speech impairment, but medications and speech therapy have been shown to be very effective in helping these children live normally.
Neurofibromatosis type 2 is a different story. NF 2 affects approximately one in 50,000 births and is more severe at all levels. With NF2, patients can develop tumors on the nerves in the ears, eventually causing deafness. Tumors can also appear on the spinal cord or brain. Fortunately, only about 3-5% of neurofibromas become cancerous. However, parents need to keep their child’s tumors under control, and if one shows noticeable growth, parents should call their pediatrician right away.
Children who have NF1 and remain healthy into adulthood have a good chance of remaining healthy and living normal lives. Support groups are available, both for those who have neurofibromatosis and for those who have children with the disease.
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