Get To Know Neurofibromatosis


Hello, all. Frank from Nats101 here. Patrick was kind enough to let me re-post my latest story here as a fanpost. So here you go:

As you've likely seen already, May is Neurofibromatosis (NF) Awareness Month. Lots of Nats-tweeters have changed their profile pictures (to the picture above), and are using the hashtag #EndNF. Ian Desmond is raising money for research via Indegogo to be donated the Children's Tumor Foundation (CTF). It's going to be big deal this month, and we here at Nats101 are chipping in.

Throughout the month, we (along with fellow bloggers at Federal Baseball, District Sports Page and The Nats Blog) will be writing about the disease, Ian Desmond's involvement in the charity, and how you can get involved. We'll be keeping you linked up to their pages, and probably finding a few other things to do with it around here. (You can thank Nats Archivist Allan for getting us involved by the way).

Since we fancy ourselves to be, at times, a baseball basics blog, I thought we could get things rolling with a discussion about just what NF is. In the spirit of our Get to Know a Nat and Stat blog posts, let's get to know NF.

Okay, so what is NF?

(For the record, I'm using several resources for this, but most of it is coming right from the wonderful CTF web faq.)

Neurofibromatosis is any of a number of genetic disorders that cause tumors to grow along various types of nerves. As you probably know, nerves are just about everywhere in your body meaning that NF can cause tumors (neurofibromas) just about anywhere in your body. Even non-nervous tissue, such as bones and skin, can develop NF tumors.

Any number of genetic disorders?

Broadly, NF falls into three categories, depending on which gene the disease is coded on to.

Okay, it's been a while since Biology class. Tell me quickly about genes.

Genes are small parts of chromosomes, which everyone has. Normally, you have 23 chromosome pairs. One comes from your mom, the other your dad. They match up in each and every cell in your body. These are the IKEA instructions telling your body which tab goes into which slot to make you. Genes are the little drawings you can never quite follow.


Don't worry though. Your cells read the gene instructions very well. They pick up those chromosome EXPEDIT instructions for eyeballs and then build them. One of those chromosome pairs is in charge of determining your sex. The other 22 (called autosomes) are in charge of just about everything else in your body.

Genes, however, mutate. Outside agents (things outside the genes, not necessarily outside of you) affect the instructions in the genes. They alter the instructions, and thus alter you. While no one is shooting laser beams from their eyes (yet...) mutations do occur and many are harmless. Unfortunately, some are not.

So NF is a mutation? It's a wrong gene instruction?

Basically, yeah. NF is a gene mutation, and they are classified by which chromosome pair the mutation can be found on (that's how they can tell there is more than one type). NF only affects autosomes and it is "dominant" disorder. This means it only needs to come from one of the pair of chromosome, not both, for it to affect the body.

So what are these different types of NF?

NF-1 is mostly spots and tumors on or under the skin. It can also affect bones, curvature of the spine. It can also affect the brain, the cranial nerves, spinal cord, and can cause learning disabilities in affected people. One in 3000 children will have NF-1.

NF-2 is much rarer (one in 25,000) and tends to be localized to the brain, cranial nerves and spine. The first symptoms are generally hearing loss because tumors affect both of the auditory nerves.

Schwannomatosis is the rarest (one in 40,000) of NF forms, and also the newest to be discovered. There seems to be some debate as to what all the symptoms are. From what I could tell it affects the central nervous system.

So is it cancer?

No, not really. The tumors are, for the most, part malignant. As many as 10% of tumors might become cancerous. But just because it isn't cancer doesn't mean it is safe. The malignant tumors can be very dangerous.


Because of where the tumors form. These tumors can form nearly anywhere (because as we said above, nerves are pretty much everywhere). You might have NF and basically lead a normal life, depending on where it shows up and how severe. You might be "lucky" if you just have the "cafe-au-lait" spots (brown patches of skin caused by the disease) on their body. Unsightly, perhaps, but far from as bad as it can get.

Unfortunately, many times these tumors affect how your body grows depending where and when you get them. Tumors develop on the spine, affecting how it grows- and the spine, of course, does more than just hold you up. It houses the cable wiring connecting your brain to most of the rest of your body. Tumors can form on or near your eyes, causing optic glioma causing incredible discomfort or vision loss. Children can be held developmentally to a very short stature or macrocephaly, an enlargement of the head.

As many as 25-50 percent of children with NF-1 will also have learning disabilities as well. It's not entirely understood how NF-1 creates these learning disabilities. The difficulties are not uniform, varying from child to child in both type and severity. School age children, and their parents, find out for the first time about NF-1 when they discover their children have difficulty with reading, math, language or even spatial, speech, or visual learning.

NF can also awaken from dormancy when children become teens. The best guess is that hormones which begin the transformation process from child to adult trigger the mutated gene instructions that hadn't been needed yet. (think of the NF being written on the pages towards the end of the IKEA instructions, instead of the beginning.

So, depending on how and when the tumors kick in...

Determines just how severe (or even deadly) the disorder can be.

It's genetic, so is this only for people with parents who also have NF?

No. Although you have a 50-50 chance of developing NF if one or your parents has NF, it is at its heart a genetic mutation. So sometimes it just happens.

Can't they cure it?

There is no cure yet for NF, but there are treatments including chemotherapy and surgery. People with NF can live full, if sometimes complicated, lives.

So this is sad and all, and I get that it is important. But why is this on a baseball blog again?

Nationals All-Star shortstop Ian Desmond is raising money, but just as (or maybe more) importantly, raising awareness for NF. As I said at the top, a bunch of bloggers are going to be writing about it this month to help raise awareness. And besides, even the most SABR-minded among us are still human...right? right? So I am appealing to the common level of humanity that binds us as a species, etc...

Can I donate some money?

You can donate money to Desmond's Indegogo campaign. He's doing very well with regards to his initial goal. So let's blow it out of the water, yes?

Do I get cool stuff if I donate?

Yes! If you're into that sort of thing. There are lots of perks depending on what you donate. I initially went for the t-shirt, but I'll probably end up donating more just because.

Wait, where does my money go again? A cure?

To the Children's Tumor Foundation. As my outline above probably betrays, there just aren't a lot of answers for NF yet. Lots of research needs to be done, both to understand the disorder and how to treat it. Your money is going to go to CTF and they are going to use it for that. (Which, maybe one day, ends up as a cure).

How did Desmond get involved?

That is a fascinating and interesting story I am going to let the other bloggers tell.

Imma be honest, this was totes TL;DR.

Fine. Here is a video:

Awesome. Don't make me scroll back to the top though. Wasn't I supposed to donate money or something?

Yes. Here.

What else can I do?

Stay tuned? Spread the word? Use #EndNF? Last week we had a fun contest where I promised to donate a $1 for every tweet-back (up to $50) I got to a particular story. Others are tying their donation to the Nats performance (How many HRs will Desi hit?). Have fun with it! We'll be doing the same. The more fun you have with something like this, even though it is a serious topic, the more folks are going to want to get involved. Even if you can't donate financially, maybe spread the word to others who might.

And, as I said at the top, keep tuned to Federal Baseball, District Sports Page and The Nats Blog (as well as us here) to find out the latest in Ian's campaign.

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