Neurofibromatosis How it Affects Me

Some of you who know me know that I and Amber have neurofibromatosis (NF1). Do you know what it really is and how it can affect us? I have decided to take some time to write about the disease and how it affects me and can affect Amber. Just to save some time in typing I will refer to neurofibromatosis from now on as NF.

Have you ever heard of a celebrity trying to raise money for NF? I am sure you have heard of people fighting for a cure for cancer, Autism, Diabetes, so why not NF. Please don’t think that I feel that those are not worthy of awareness, they are but so is NF. You may wonder what is NF. NF is a genetic disorder of the nervous system that causes tumors to form anywhere on or in the body at anytime. NF is a progressive disorder that can affect anyone, it knows no boundaries. It is one of the most common genetic disorders in the United States. There are two distinctive forms of NF, they are NF1 and NF2. NF is very unpredictable you never know how sever it maybe. Think of the game Russian Rullet, you never know if when you pull the trigger a bullet will fire. With NF, NF is the gun and the complications are the bullets. You pull the trigger and you don’t know what will hit you. The complications of NF can be mild to severe. Just some of the complications from NF1 are : Visual impairments/Blindness, Optic Glioma, Seizures, Headaches, Brian Tumors, Learning Disabilities, Marocephaly, speech impairments, high blood pressure, nuerofibromas (tumors) develop anywhere on the body, and bone deformities. This is just a brief list of what can happen, there are many other complications to NF. NF affects more than 100,000 Americans; this makes NF more prevalent than Cystic Fibrosis, hereditary Muscular Dystrophy, Huntington's Disease and Tay Sachs combined.

Diagnosis Criteria for NF1.
Two or more of the following: *
Six or more café-au-lait spots 1.5 cm or larger in post-pubertal individuals, 0.5 cm or larger in pre-pubertal individuals
Two or more neurofibromas of any type or one or more plexiform neurofibroma
Freckling in the axilla or groin
Optic glioma (tumor of the optic pathway)
Two or more Lisch nodules (benign iris hamartomas)
A distinctive bony lesion: dysplasia of the sphenoid bone or dysplasia or thinning of long bone cortex
A first-degree relative with NF1

I was diagnosed when I was about 16. I was having pain in my right ankle and the side of my foot was mushy. I went to the doctor and at first he did not want to do anything since the pain was tolerable. After being very insistent that it at least be x-rayed he did something. The x-ray showed a mass. My doctor decided that he could remove the mass in his office. I remember him hitting a nerve and me kicking him in the face. He removed what he called a fatty tumor. But it really was a neurofibroma. A few months later I was still having problems. I was sent to an orthopedic surgeon who tried to remove it again. Not long after that it grew back and I was back to the Orthopedic. It was then I was referred to MD Anderson Cancer Hospital in Huston TX. I had several test there. Finally after the entire test and MRI I was taken into the large room with about 25 to 50 doctors. I sat on an exam table as my doctor began to discuss my case. He said he thought it was NF. Then he told all the other student doctors to go examine me. Can you imagine what it is like? I was 17 and I had all of these doctors counting my Café-au-lait spots. I felt like they were playing connect the dots on me. So I was officially diagnosed with NF, it turns out my mom has it to.

I have a mild case of NF. I have learning disabilities, neurofibromas both in and out and spots. I am not monitored like I probably should be. I do wonder if I could possibly have more neurofibromas in my body but trying to get the doctors to order MRi’s is difficult. Amber does go regularly to a genetics doctor, and an ophthalmologist.

I will Post more later about this. I belive it is an important cause and it needs attention. If you would like more information on NF please visit the links below.

Childrens Tumor Foundation

Neurofibromatosis Inc.