I have Neurofibromatosis

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: NF-1 and NF-2. 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.

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 similar to NF, but unrelated

Courtesy of www.nfinc.org

My story: When I was born there was a weakness in a bone in my left leg, my parents believed it to be broken, I was taken to the doctor, and they found out that I have Neurofibromatosis type one, also known as NF1 (not sure how many test, if any, were done, or how many cast were put on to help heal my leg, or how many doctors I'd seen) I had 5 surgeries before I was two and a half years old. From stories that I've heard, I had pins and rods put in it, bone taken from my right leg and hip to try to fuse the bone, many body casts, my mom tells me that my foot didn't even look like a foot anymore, it looked more like a club, because of all the casts and surgeries, my mother made a very hard decision... to have her baby girls leg amputated. It was that, or go through who knows how many more surgeries. I had two more since then, one was to fix the growing sharpening bone, and another to make a "bridge" and to fix the nerves so they wouldn't be so sensitive. During the last (6 hour surgery) they removed two neurofibromas (benign tumors.) This was the first I heard that I could develop them, I really hadn't done any research on NF, I now know that I can develop them anywhere in/on my body, that I know of I have at least 5, but I have no idea how many I really have, without getting testing done.

I'm the youngest of three children, the only one that has NF, no one in my family has any signs of it, I have 100's of café-au-lait spots, and there isn't anyone else in the family that meets that criteria, thankfully.

Growing up having NF, a fake leg, was really hard, I really didn't see my self as different because of this disorder, but other kids did, I was made fun of a lot as a child, but I stood my ground, in my eyes I wasn't all that different, People would ask about my spots, a lot comment on them being ugly birthmarks (I always had to correct them, because thats not what they are, and I was proud that I knew that, and proud that I could say such a big phrase.) I was always told that I couldn't do this and couldn't do that, my leg didn't limit me that much when I was little, oh and on top of all that I was diabetic! Sucked for me, no chocolate cake! (I'm not anymore, thank goodness, I "grew" out of it, surprised my doctors thats for sure!)

Now it saddens me to say, when I'm not wearing my leg, using crutches to get around, its adults that stare. Sheesh and they tell their children not to stare. My nephews and nieces used to ask me why people were staring, to them it was "normal" I'd just smile and and say "They don't understand" or "they are just curious." sometimes I would throw in a "they weren't taught, it's not nice to stare."