What is Neurofibromatosis Type 1?

First, I am not a doctor or a geneticist so this is a simplified version of Neurofibromatosis Type 1 (NF1). If you want real medical information, talk to your doctor! The information I have is from doctors, genetic counselors, and ctf.org. The Children’s Tumor Foundation (ctf.org) is a wonderful resource for NF1 and helps fund a lot of research!

I have been diagnosed with Neurofibromatosis Type 1 through genetic testing and Eliza and Oliver have also been diagnosed. I was tested after both kids were diagnosed. There are three types of Neurofibromatosis (NF1, NF2, and Schwannomatosis). NF affects 1 in every 3,000 people which is actually relatively common!

All three of us have Neurofibromatosis Type 1!

The main indicator of NF1 is multiple café au lait (light brown/birth mark) spots on the skin. I have 6 café au lait spots and no other symptoms. Many people with NF1 also have neurofibromas (benign tumors) on or under their skin. About 50% of people with NF1 have learning challenges. In more rare cases people with NF1 can develop benign tumors in their brain or on their optic nerves (Eliza!). NF tumors are usually not cancerous but can sometimes cause issues if they push on important body tissue (like Eliza’s optic nerve). There are also other rare complications that can occur such as scoliosis, high blood pressure, and delayed or early puberty.

Oliver getting leukemia is NOT a typical manifestation of NF1. He had a double genetic mutation – first the NF1 and then a second mutation that caused him to get JMML. Less than 1% of people with NF1 will develop leukemia.

NF1 is autosomal dominant which means since I have NF1 our kids had a 50% chance of getting it. Either you have it or you don’t, there is no such thing as being a “carrier.” 50% of the time NF1 is a spontaneous mutation and 50% of the time it is inherited from a parent. Unless serious complications from tumors occur, those with NF1 have a normal life expectancy.

Oliver’s largest cafe au lait spot on the left side of his back

There is a huge range of how NF1 can manifest. Some people never even know they have it, some people (like Oliver) have serious complications from it. While not always the case, most tumor growth happens in early childhood and during puberty. Eliza will get 3 month MRIs for a few years and then as long as the tumors are stable they will be just once a year.

There is no way to predict how it will manifest, even within the same family. There is currently no “cure” for NF1 since it is a genetic condition but there is a lot of research being done to find new ways to treat issues that may arise.

We met with Oliver’s NF1 doctor a couple weeks ago and she said something to me that made me furious. (Although at the time I just kept it inside…I didn’t realize until later the meaning of her words). I mentioned a family member of mine was getting tested for NF1 so they could be ready to watch out for signs of NF1 in their children if they had NF1. The doctor said “oh yeah, and there is genetic testing you can do on fetuses so that if they do have NF1 you can choose not to keep the pregnancy.” I HAVE NF1!! It was basically like the doctor was telling me I shouldn’t have been born and that my two kids should not have been born. I wouldn’t trade my kids for the world. They have not had the easiest life so far but they are happy and they are LOVED and they are children of God. No one is guaranteed a life without struggle. We live in a fallen world and there is suffering but that does not make my kids’ lives one bit less significant than a child born without NF1.

The world is a better place with this little guy in it!

Honestly, I feel like my kids will be stronger for having gone through these trials.  I obviously would not have chosen Eliza to have an eye tumor or chosen Oliver to have leukemia but through these struggles we have seen answers to prayer, miracles, and people pouring love on us like you could not believe! We have been blessed and humbled through everything.

Please comment if you have any questions about NF1! I really barely knew about NF1 before the kids were diagnosed but I know a whole lot about it now

2 comments

  1. Claudia · May 24

    Thank you so much! Reading this made me feel so much better. My son is showing many symptoms, we had checked him two years ago but he showed many of the symptoms but not enough to diagnose, anyway last year with covid we forgot. Suddenly now he has started to show more symptoms and of course I’m googling before seeing the numerologist. Needles to say I’m a little freaked out, but this post really calmed my nerves. Thank you and god bless

    Like

    • karalswanson · May 25

      Google still freaks me out! It seems there are so many negative stories and not enough good ones even though well over half of NF1 cases are mild!

      Like

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