What is NF?

Neurofibromatosis (NF) is a genetic disorder of the nervous system which causes tumors to form on the nerves anywhere in the body, at any time. This progressive disorder affects all races, all ethnic groups and both sexes equally. NF is one of the most common genetic disorders in the United States, impacting one in every 2,500. Neurofibromatosis affects about 128,000 Americans; this makes NF more prevalent than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington’s Disease and Tay-Sachs, combined.

NF has three genetically distinct forms: NF-1, NF-2 and Schwannomatosis. Each are caused by mutations or deletions in specific genes and chromosomes. The effects of NF are unpredictable and have varying manifestations and degrees of severity. There is no known cure for any form of NF, although the genes for both NF-1 (chromosome 17) and NF-2 (chromosome 22) have been identified.

NF is an autosomal-dominant genetic condition. It is not contagious. Approximately 50% of those affected with Neurofibromatosis have a prior family history of NF. The other 50% of cases are the result of spontaneous genetic mutation. If an individual does not have NF, s/he cannot pass it on to his/her children.

Joseph Merrick, whose condition was depicted in the play and film, The Elephant Man, is often incorrectly thought to have had Neurofibromatosis. Merrick’s condition has been identified as Proteus Syndrome, a disorder with similarities to NF, but unrelated. To learn more about Proteus Syndrome, please visit the Proteus Syndrome Foundation.

RESOURCES

• Webinars for those impacted by NF
• Understanding Neurofibromatosis (ebook)
• Understanding Neurofibromatosis Type 2 (ebook)

In Their Own Words