What is Neurofibromatosis?

Usually when I mention that my daughter has NF, the common resposne is "What's that?". The fact that the disease is not well known is surprising when you consider the fact that the most common type of NF occurs in 1:3500 births. It is a genetic disorder that is often confused with Elephant Mans disease because of the visual similarities.

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 (one in every 3,000 to 4,000 births).

NF has two genetically distinct forms: NF1 and NF2. The effects of NF are unpredictable and have varying manifestations and degrees of severity. There is no known cure for either form of NF, although the genes for both NF-1 and NF-2 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 can not pass it on to his/her children.

Visual example of skin neurofibromas: (an image search on Yahoo will turn up many of the different deformations that can happen with NF)

Luckily, my daughter has not yet begun to develop any of the neurofibromas yet. She has multiple cafe au lait spots, and the tumors are likely to develop during or soon after puberty, but so far we've been lucky. She has annual MRI's to check growth on spots that were found on her brain several years ago. They have shown no growth over the past couple years, which is outstanding.

Anyway, I get the question allot and felt that this was a good way to answer it. Please feel free to PM with any questions.