Today is Worldwide NF Awareness Day!
You might have no idea what that means, which is pretty normal. I didn’t really know what it meant until early this year, when I stayed up too late on the internet one night, started getting anxious, and made an appointment to see my doctor. I do this sort of thing occasionally: last time, a doctor had to tell me that I did not develop diabetes at age 27 — I was actually just too stressed out at work and drinking too much water before bed. I can be a problematic patient, and to all my doctors: I’m so sorry for the hassle, but you’re also welcome for the assist in getting those nice cars you drive.
Anyway, a little less than a month ago, I received confirmation that the internet was right about something for once, and I was diagnosed with NF. I haven’t really talked about this with more than a couple people outside my family, so this is probably a good a time as any to explain some ~stuff~.
WTF is NF?
NF is an abbreviation for neurofibromatosis, which is a family of genetic disorders with the primary bad habit of causing lots of tumors, especially tumors on or around nerves in the body. It can also cause a bunch of other things, including a variety of musculoskeletal disorders, cognitive/learning disabilities, chronic pain, and optic gliomas, which can lead to blindness.
As scary as that sounds, NF is one of the most common genetic disorders around. About 1 in 3,000 kids will be born with one of the three chromosomal mutations that cause NF. About half of these cases are inherited and the other half are spontaneous mutations. NF is more common than cystic fibrosis, Duchenne muscular dystrophy, and Huntington’s Disease combined. This is one major reason I decided to write this today: everyone should know about such a stupid common disorder and it blows my mind that most people are unfamiliar with it.
The most common form is neurofibromatosis type 1, aka NF1 (sometimes called von Recklinghausen disease, which sounds slightly more badass, IMHO), which is what I have.
NF2 and schwannomatosis are in the same family, but they’re also genetically distinct with different symptoms and prognoses. Since I’m probably dealing with a small audience here, we’re going to focus on NF1. Also, I’m not exactly a neurologist and I’m still sort of figuring this stuff out for myself.
So, first and foremost:
Am I Dying?
Of course! We all start the long process of death the day we’re born.
But I guess it might be more appropriate to say no, not that I know of. And I’ve actually managed to be pretty well-informed on that over the past three weeks (!), which is pretty awesome.
How bad is it?
For me, not too bad at all. I had a few emotionally bad days after getting my blood test back, but I’d also only been told I had a *life-changing tumor disorder* via *email* after my first neurologist sat on the results for *four weeks*. That did, however, allow me to redirect a lot of my ~feelings~ towards my now ex-neurologist. Also, my only information was coming from WebMD and Wikipedia. Those are not comforting sources.
[Edit: It might also be worth noting I was right in the middle of finals when I got the lab results. Considering I could have gotten them a month sooner, the timing was reeeally not ideal.]
However, there are two important follow-ups to this:
NF is objectively horrible.
First, I am incredibly lucky. NF is a super messed-up disease that has absolutely devastating effects for SO many people, and its symptoms can absolutely be fatal (and they often are).
Due to its genetic nature, the hands-down most screwed up thing about NF is that the people most affected are kids. Symptoms of NF are usually apparent at birth and they worsen over time, particularly leading up to and during puberty. 60–80% of kids with NF have cognitive and learning disabilities, and a significant number of them have to cope with optic gliomas and many other invasive and disfiguring tumors before they even get started on this planet. Nothing about that is okay. This is the part where I direct you to The Children’s Tumor Foundation, which is a) incredibly informative, and b) doing real and meaningful good things for kids who have NF. They also have videos to watch if I’m boring you already.
Non-awful NF symptoms are interesting and they change over time.
I’ve always had NF — I just didn’t know that I did. As I mentioned, though, signs of NF are normally present at birth. A clinical diagnosis normally calls for at least 3 hallmark signs of NF. For baby me, only one major thing was (obviously) there.
One of the tell-tale signs of NF are 6+ somewhat large birthmarks called café-au-lait spots: flat, slightly-darker-than-skin-tone, roundish marks with a sexy French name. I’ve always had these.
If you know me, you might have noticed the one on my neck, which I always felt was one of the better birthmarks I had. The others are on my arms, waist, and legs. I never thought much of them; they were just there, like little Rorschach tattoos for hardcore babies. That said, my pediatricians noticed them, but when I didn’t show any other signs of NF as a kid, they figured I didn’t have it (which was a completely reasonable conclusion).
When I was around 12 or 13, the patriarchy taught me to shave my armpits. At that point, I noticed I had freckles there. Since I was not in the habit of inspecting armpits other than my own, I thought nothing of this. Axial (armpit) and inguinal (groin) freckling is another hallmark of NF1. You don’t get pictures of my freckles because you know what armpits look like. Imagine them with freckles. Bam.
What prompted my panic-attacky visit to my doctor in January was something I’d only noticed in the past couple years.
I like my eyes (except for the fact I’m profoundly myopic). On my driver’s license, they’re listed as green, but there’s definitely that brownish-hazel bit in the center. This is a picture of one of my eyes, as you may have guessed.
I took this photo with a potato, but you might notice three or four darker brown spots in my iris that I now call my “fancy mutant eyeball freckles.” They’re actually called Lisch nodules. They don’t do anything but make your eyes look interesting and, if you also come with 2+ other symptoms, they suggest you probably have NF. Last winter, I found a fancy mutant eyeball freckle I hadn’t noticed before. It had probably been there for a long time and I hadn’t been gazing into my own eyes enough… but taken together with the other things, I decided to see my doctor.
I also have maybe three or four little things which really just seemed like skin-colored moles one might get lasered off one day. They’re actually called neurofibromas. I come from a mole-y family, so I didn’t think these might be weird. According to my new neurologist, Dr. Greenwood, they’re little areas on my skin exhibiting a “loss of heterozygosity.” The NF mutation affects the part of chromosome 17 that controls cell growth, so this is a really common situation where cells are being dicks and replicating more than they should. Most people with NF1 have more of these than I do, but I only noticed these over the course of the past 5 — 10 years. You can have a couple of these and be totally healthy and normal; in fact, a ton of people have these just pop up randomly as they age and they mean absolutely nothing (the neurofibromas, that is — not necessarily the people).
As you might have gathered by now, the fact that nearly all of my symptoms developed over time means that NF1 changes with age. In my case, though, I got through puberty without any serious issues. Let me repeat this: I am incredibly lucky. According to Dr. Greenwood, the fact I’ve developed my symptoms so slowly and so mildly means I’m probably going to lead a pretty chill life. What makes my situation even better, though…
I have amazing doctors and the ACA continues to amaze me.
I referenced my ex-neurologist. He was out of a private practice that had earlier openings for new patients than my local hospital (UNC). I saw him once, for about 10 minutes, and he said he’d call me if there was any bad news (I was freaked out and made him promise this, too). His nurse was a wonderful, thoughtful woman who was invested in my care. The neurologist, clearly, was not. This still pisses me off, but I digress.
My primary care doctor should, in my opinion, be President of All Medicine Everywhere. Dr. Kurz is the same guy who refused to call me insane when I spent most of 2008–2010 in and out of the ER with an inexplicable abdominal pain that eventually forced me to withdraw from my original senior year at UNC. Turned out I had a rogue organ with a five-year-old low-grade infection that finally tried to kill me in 2010, and Dr. Kurz had believed something was physically wrong with me the whole time, even when I started to think it was something psychological. I’m still pretty sure I’d be dead without him.
True to form, Dr. Kurz saw me literally the day after I saw my positive lab results, talked with me, and started setting me up with a team of specialists.
I now have a neuro-ophthalmologist who told me yesterday that I have zero signs of cancer on my optic nerve — so that’s win #1.
And remember Dr. Greenwood, my fancy new neurologist? Turns out he runs UNC’s entire NF clinic — which is a specialized clinic most parts of the country don’t even have. If they do, they tend to only see pediatric patients. Dr. Greenwood takes adults, too. And he’s awesome. And I’m set.
As far as my brain area goes, I had an unrelated MRI a few years ago, and it was totally normal. With no new signs of brain problems (though I guess that’s somewhat debatable), I don’t need another one quite yet. Sometimes routine MRIs are necessary with NF, though, and that could eventually be my plan… but not yet.
Final important note
If a first-degree relative of yours has NF, you need to let your doctor know. It IS a genetic condition, and you need to know if you or your other family members might be affected. I likely inherited the mutation from one of my parents, which is why their doctors are going to check them out, too. NF also comes with other significant considerations which I didn’t address here, but the more you know about your genetic makeup, the better.
Neurofibromatosis is a lame thing to have. At the moment, I have a super, super mild case and amazing, proactive, thoughtful doctors who are taking great care of me. I am incredibly lucky, but so many people with NF need to be acknowledged and cared for. This is NOT a terribly rare disorder and it should be acknowledged for both its frequency and severity.
To learn more about how you can get involved, visit The Children’s Tumor Foundation.