What is Neurofibromatosis?

Neurofibromatosis (NF for short) is a genetic disorder that occurs in approximately 1 in 3,000 people, making it the most common genetic disorder. It is more common than Cystic Fibrosis, Muscular Dystrophy, Huntington’s Disease and Tay Sachs Disease… combined! Majority of people are not aware of this disorder, and with this blog I'm hoping to raise awareness for NF!
NF is a disorder of the nervous system,which causes tumors to form on the nerves anywhere in the body at any time, and at any age.  Often these tumors (called neurofibromas),  appear on the surface of one’s skin, but may also be present on the brain, spinal cord and heart. Bone abnormalities, skin discolouration, blindness, and hormonal disorders are also common side effects of NF. Majority of the time these tumors are benign, but in 3-5% of cases these tumors turn malignant. Since there is NO  cure for NF, surgery, medications and various types of treatment are the only "cures" for this disorder.


NF has never really affected me until I hit my teenage years. I had a large fibroma on my back that was showing signs of changing (and being 13 you really don't want to have an ugly looking birthmark on your back), so I decided to have it removed. After the surgery, I had an MRI done of my brain just to make sure I didn't have any abnormal growths. I waited and waited, anxious to hear what they found in my scans. I was absolutely terrified that they were going to find something wrong. Finally, after weeks of waiting, my scans were in. They told me I had a brain tumor. I was devastated. Lucky for me, it is relatively small, and it is growing in the middle of my brain (in a portion called the hypothalamus). Surgery is NOT an option, and I'm so so lucky that the tumor hasn't grown in the past four years.

After they found the tumor (they have called it an Optic Glioma, which is the most common type of tumor in individuals with NF), I started having severe back pain. After a few months of it not going away, I went and had scans. Again, I feared that something was wrong, and when they told me I had scoliosis (curvature of the spine) I was again crushed. Later that year I started having headaches. To this day, doctors cannot figure out why I have them, and why they won't go away. Headaches are frequently found in people with NF, but unlike other people mine don't seem to respond to treatment. In addition, last year I was diagnosed with Growth Hormone Deficiency, meaning that my body wasn't making enough growth hormone. For those of you who know me well, that is why I am so small for my age. Lastly, two tumors were found in my pelvis last summer during an MRI, and one has also appeared in my leg as well as my arm.


Anyways, I'm hoping that my trip to the Mayo Clinic will bring some answers to all of the unanswered questions I have, and maybe bring some closure. I'm not expecting to be "cured" or anything in the 3 weeks I'll be there, I'm just hoping to finally be heard.