Jerry Willman

NF stands for Neurofibromatosis (neuro-fibro-ma-toe-sis) which is complex genetic disorder of the nervous system which can result in terrible disfigurement, deformity, deafness, blindness, brain tumors, cancer and even death. NF knows no boundaries, as it is equally common in males and females and every racial and ethnic group, and 50% of all the people with NF have no family history of the disorder. While not all NF patients suffer from the most severe symptoms, all live with the uncertainty of not knowing if, or when, they might be severely affected because NF is a highly variable, and progressive disease. Facts & Statistics NF has been classified into three distinct types; NF1, NF2 and Schwannomatosis. They are caused by different genes, located on different chromosomes. NF1 is not a rare disorder, it is the most common neurological disorder caused by a single gene. NF1 is the more common form of NF, occurring in 1:4,000 births throughout the world. NF2 is a rarer type, occurring in 1:40,000 people worldwide. While today there is no consensus, studies indicate that Schwannomatosis occurs in 1:40,000 people, similar to NF2. The Neurofibromatoses are genetically-determined disorders which affect more than 100,000 Americans; this makes NF more prevalent than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington's Disease and Tay Sachs combined. All forms of NF are autosomal dominant genetic disorders which can be inherited from a parent who has NF or may be the result of a new or "spontaneous mutation" (change) in the sperm or egg cell. Each child of an affected parent has a 50% chance of inheriting the gene and developing NF. The type of NF inherited by the child is always the same as that of the affected parent, although the severity of the manifestations may differ from person to person within a family. NF is worldwide in distribution and affects both sexes equally and has no particular racial, geographic or ethnic distribution. Therefore, NF can appear in any family. Although most cases of NF1 are mild to moderate, NF1 can lead to disfigurement; blindness; skeletal abnormalities; dermal, brain and spinal tumors; loss of limbs; malignancies; and learning disabilities. NF1 also has a connection to developmental problems, especially learning disabilities, which are five times more common in the NF1 population than in the general population. The distinguishing feature of NF2 is tumors that grow on the eighth cranial nerve in both ears, commonly causing deafness and severe balance problems. NF2 brings on increased risk of other types of nervous system tumors as well. NF2 can also cause severe vision problems, including cataracts, retinal abnormalities and orbital tumors. Accordingly, NF research may benefit an additional 100 million Americans (i.e. 65 million with cancer and 35 million with learning disabilities). NF is not the "Elephant Man's Disease," although it was at one time believed to be. Scientists now believe that John Merrick, the so-called "Elephant Man," had Proteus Syndrome, an entirely different disorder.
Disease is so negative. NF is not contagious. Neurofibromatosis is considered a member of the neurocutaneous syndromes (phakomatoses). In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. This grouping is an artifact of an earlier time in medicine, before the distinct genetic basis of each of these diseases was understood.