Wednesday, April 9, 2014


Let's talk about Neurofibromatosis, the condition Del was recently diagnosed with because I'm getting a lot of questions.

There are two different types: NF1 and NF2.
Del has NF1, so I'll talk about that.

NF1 is hereditary, but in 50% of the cases, the person is the first person in their gene pool with NF1 (as is the case with Del - before her, we had no family history of NF1). For those where it is hereditary, it's interesting to know that NF1 is the most common neurological disorders.
Indicators that you may have NF1 (must have two of the following):

* A genetic connection with NF1
* More than 5 cafe au lait spots (birth marks) (Del has about 30 of these)
* Optic nerve tumors
* thinning of bones and/or bowed legs
* freckling where the skin creases (Del has this)
* discolored bumps on the iris of the eye
* more than one bump, about the size of an apple seed, under the skin (Del has one so far)

NF1 means you get tumors (known as fibromas) that are non-cancerous and grow just under the skin, usually. Our pediatrician explained that they aren't a big concern but they take up space. So in theory the fibromas could impede on blood flow - to the heart, the brain. Many NF1 kids (about half) have learning difficulties. In a way, I'm thankful we didn't discover Del's diagnosis until after she'd learned to read. So the fibromas need to be monitored. We're not really sure how, but the geneticist wants to see us in two years. The biggest period of fibroma growth is during a surge in hormones - because all that growth hormone cocktail also feeds fibroma growth. So puberty and pregnancy are the times of rapid fibroma growth - the time when we'll be frequenting the geneticist more regularly.

We were referred to a geneticist who confirmed the pediatrician's suspicion that Del has NF1. She did not feel genetic testing was necessary at this point, her physical attributes were confirmation enough for her. She did refer us to a pediatric ophthalmologist as optic nerve tumors are a bit concern and can effect vision. The pediatric ophthalmologist was wonderful and says everything looks great for now. We'll see her again in a year. The eye piece is most concerning because it kind of sounds inevitable. The pediatric ophthalmologist wants to see Del annually.

Besides the skin and the eyes, the fibromas also effect the nerves. We haven't seen this in Del at all yet.

Our pediatrician wants Del to go to an NF1 specialist at some point. There's on in NYC at New York-Presbyterian, Children's in Boston, and the big one is apparently in Maryland at Johns Hopkins.

It's scary if you think about it, but we're assured by everyone but the pediatrician that it's all manageable and actually not that scary. So deep breaths.

Anyone have experience with NF1? Please leave your stories in the comments!
Or questions - leave those in the comments too. If I don't know the answer, I will find it!


Christina said...

If you haven't seen this site already, you might find it useful.

lovermont said...

I hadn't found this site yet - thanks!