Stories of NF: Kelly R.

I remember the day I couldn’t see out of my left eye. I became obsessed with waving my hand in front of my face, searching for the sweet spot where I could make it disappear. Earlier that year I suffered through a bout of Idiopathic Uveitis. Believing it had returned, I went to the ER expecting to be given a script for steroid eye drops and then be on my way. Wrong! I was told that my optic nerve was swollen and apparently that’s a big deal; I was admitted.

An MRI, CT scan, spinal tap (try to never need one), and blood work, yielded no answers; I didn’t even get eye drops! What I did get was a neurologist. While he had no clue as to why my optic nerve was swollen, he found something of interest on my MRI: a tumor on my trigeminal nerve. He wasn’t overly concerned, the tumor was small (size of a pea) and I showed no signs of motor difficulties (thankfully he didn’t ask me to do a cartwheel). He casually mentioned neurofibromatosis 1 (NF1) as a possible reason for the tumor. I had never heard of it and he didn’t explain it very well. This being 1994, I looked it up in our old Encyclopedia Britannica. I remember reading the serious sounding description. I thought, “Really, they think I have that!?”

Diagnosing NF1 relies on strict physical criteria and while I did not meet all of the criteria to receive a diagnosis; I had enough that it couldn’t be ruled out. I was 29. About a year later I moved. I found a new neurologist and while he knew of NF1 (which is amazing in of itself), he poo-poo’ed the possibility. His take: even if I did have NF1, it was such a mild case that a diagnosis wouldn’t change how he was treating me. I went along with his thinking and put NF1 on the back burner.

Fast-forward eight years: I found an NF clinic at Johns Hopkins Hospital in Baltimore. After a thorough review of my history and a detailed physical exam, no one in the clinic felt confident enough to give a yes or no. I couldn’t believe it!

Two years later, my geneticist informed me that the lab at University of Alabama had a very reliable genetic blood test for NF1; she said it would be perfect for a difficult to diagnosis case like mine. On September 22, 2005, at the age of 40, I received my official diagnosis of NF1, 11 years after it was first suspected. I wasn’t surprised; I was relieved. I thought, “Yes! Finally, we are done playing around, no more maybes.”

In 1999 I had to have surgery to remove a cyst from my brain tumor. Surgery was eight hours long. The day after the surgery, I could not move my right leg at all! Anyone else might have been freaking out at this point but not me. My surgeon was very confident that I would regain the use of my leg with physical therapy and I placed my total trust in him.

At the ripe old age of 33, I was going to have to learn to walk again. Aggressive physical therapy was started and at first the therapist moved my leg for me. Gradually I was able to move the leg myself but I still needed assistance to walk. After eight long days, I was discharged from the hospital and sent to a rehabilitation facility. Two weeks later, I walked out of the rehab facility with the assistance of a cane and a leg brace.

I embraced my new lease on life and started exercising regularly; I finished my Bachelor’s degree. I had a job that I enjoyed. But my world would be turned upside down again in 2002 when I received a diagnosis of Crohn’s disease. Currently I experience extreme fatigue and at times I struggle just to keep up with household chores. With medication and diet changes, I’m happy to report that I have been in remission since 2009.

The lumps make me self-conscious. I chose not to have children. Walking and maintaining my balance is a struggle sometimes. I do my best to not dwell on those things. I have found strength in writing. I have had articles published by a website called “The Mighty” and by the Center for mind Body Medicine. It is very empowering for me to see my stories in print. I would love to write a book some day.