I've been distracted of late. Neurofibromatosis, type I. Often shortened to just NF-1. This is a medical term, relating to a neurological disease, that I now need to learn about. My oldest daughter, Vanessa, had a doctor’s appointment recently. For somewhile now, Vanessa has had some freckling and maybe half a dozen dime sized faded brown spots on her left side. We were thinking that maybe she could see a dermitologist to get them taken care of, since she seems embarrassed by them: she will rarely wear a bikini as a consequence. At twelve years of age, she’s starting to think more about how she looks.

So, to the doctor my wife took her. Vanessa’s bloodwork all came back normal; in fact, the doctor said he wished his own blood work were so good. But as soon as he saw the spots, he got very quiet, felt my daughters abdomon, and then, when he was done, took my wife out of the room while Vanessa got out of her paper gown and back into her normal clothes.

“Did you feel something?” my wife asked.

“No. She’s fine. But I’m concerned about those spots; we call them café-au-lait spots.”

“She has Starbucks disease?”

The doctor smiled at the joke. “No, but I want her to get an MRI. Right away.”
Rather than leaving it up to my wife to make the call, he called the local MRI facility and set up an apointment for Vanessa. And he told my wife that he strongly suspects that Vanessa has NF-1, explaining that it was a genetically based neurological ailment.

My wife phoned me with the news. When she got home, she went straight to her computer and looked up more details online. I also did some searching and discovered some details.

The National Institute of Health (NIH) has created specific criteria for the diagnosis of NF-1. Two of these seven “Cardinal Clinical Features” are required for positive diagnosis:

• 6 or more café-au-lait macules over 5 millimeters in greatest diameter in prepubertal individuals and over 15 millimeters in greatest diameter in postpubertal individuals
• 2 or more neurofibromas of any type or 1 plexiform neurofibroma
• Freckling around the armpit or groin
• Optic glioma
• 2 or more Lisch nodules (iris harmartomas)
• A distinctive osseous lesion such as sphenoid dysplasia or thinning of the long bone cortex with or without pseudarthrosis
• A first degree relative (parent, sibling, or offspring) with NF-1 by the above criteria (adapted from: Huson SM, Hughes RAC. The Neurofibromatoses. London, UK: Chapman and Hall; 1994;1.3.2:9)

It used to be thought that this was the illness that the Elephant Man had; it is now known that, although he may have suffered from this disease as well, his primary problem was Proteus Syndrome, a problem that affects tissue, not just the nerves. From what I have read, the prognosis for those with NF-1 is good. In most cases, symptoms of NF-1 are mild, and patients live normal and productive lives.
However, and this is the scary part: tumors are a possibility and can be very serious. Most are benign, but malignancy can occur. My wife made the mistake of looking on some bulletin boards devoted to the disease and read horror stories. I encouraged her to stop reading such things.

About five days after the preliminary diagnosis, Vanessa had an MRI of her brain, to check for brain tumors. It took about two hours, with an hour and a half of that time spent on the table. She didn’t mind it too much, outside of the one injection that they had to give her to increase the contrast: they put something into her bloodstream. Vanessa hates needles and shots, and so was quite unhappy about that.

Then, for the next two days my wife and I had to wait for the results, which turned out to be negative. We joked with her that they did an MRI of her head and found nothing. Her response was, “That’s messed up.”

So, for the moment, she is clear, without any tumors, aneurisms or any other problems. Nevertheless, her pediatrician has told us to get her to a neurologist that specializes in such things, so my wife is researching some of the specialists in our local area who work on such things.

At the moment, there is no cure for NF-1, nor is there any treatment, aside from surgery, chemotherapy or radiation treatments should any tumors develop. But for now, Vanessa is perfectly healthy and tumor free. This week she tried out for cross country in her middle school.