Sunday, May 1, 2016

Neurofibromatosis Awareness Facts!

May has to be one of my favourite months, it's NF Awareness Month!!! 

I know you all are probably in the same boat that I am... constantly needing to educate people (including health care professionals) on what NF actually is, so here are 31 facts that you all can share to help raise awareness! Let's use this month to share information about our condition, and make NF as well known as asthma, diabetes and high blood pressure!

1. Neurofibromatosis is one of the most common genetic disorders caused by a mutation of a single gene.... more than 2 million people worldwide are affected by this condition!

2. Neurofibromatosis is more common than Cystic Fibrosis, Huntington's, and Muscular Dystrophy... COMBINED!

3. There are 3 different classifications of Neurofibromatosis: Neurofibromatosis Type 1, Neurofibromatosis Type 2 and Schwannomatosis, all of which are caused by mutations of different genes

4. Neurofibromatosis is an autosomal dominant disorder, meaning people who have the condition have a 50% chance of passing it onto their children. However, more than 50% of NF cases are due to "spontaneous mutation" of chromosome 17

5. Neurofibromatosis Type 1 has a prevalence rate of 1 in 3,000 people and makes up 90% of all NF cases

6. Neurofibromatosis Type 2 has a prevalence rate of 1 in 25,000 people

7. Schwannomatosis is the most "rare" of the Neurofibromatoses, as it only occurs in 1 in 40,000 people

8. Neurofibromatosis Type 1 is caused by a mutation of chromosome 17, which is responsible for making a protein called "neurofibromin". Neurofibromin plays a role in tumor growth inhibition, which is why people with NF have tumors grow all throughout their bodies

9. It's hard to predict how mild or how severe any NF case will be. Approximately 60% of people will have very mild symptoms (ex: cafe-au-lait spots), while the remaining 40% will have moderate to severe symptoms/complications that may be corrected by surgery/medication or that may be persistent and life long (ex: scoliosis)

10. Neurofibromatosis is a systemic condition, meaning that it impacts all systems of the body.

11. Cafe-au-lait spots are the most common sign of Neurofibromatosis. Cafe-au-lait spots are caused by an excessive amount of melanin in the skin. Melanin is a protein that gives skin its pigment. One of the diagnostic criteria for Neurofibromatosis is to have six or more cafe-au-lait spots that are at least 0.25 inches in diameter. It is rare for tumors to grow where there are cafe-au-lait spots (BONUS FACT: 10% of people in the general population have cafe-au-lait spots)

12. The one distinguishing diagnostic criteria that separates NF-2 from the other Neurofibromatoses is the development of tumors on the 8th cranial nerve in both ears (this nerve is important for hearing). In some cases these tumors can cause loss of hearing, and in some cases deafness. These tumors are almost always seen in NF-2 ONLY

13. Lisch nodules are the most common ocular complication seen in Neurofibromatosis, as approximately 95% of people have these by the age of 6. Lisch nodules are hyperpigmented patches in the eye that do not impede vision. Sometimes they can be seen with the naked eye

14. It is estimated that 15-40% of people with NF have optic nerve gliomas. Most often, these tumors develop in childhood and are very unlikely to develop in adulthood. Typically these tumors are very slow growing and have very low malignancy rates. They can however cause vision loss in some people

15. More than 60% of people living with Neurofibromatosis also have a learning disability. Children with NF are 5 times more likely to suffer from ADD and ADHD

16. People with NF have a slightly higher chance of developing cancer in their lifetime than those in the general population. Approximately 25% of people will have cancer in their lifetimes, and 30% of people with NF will develop cancer

17. Treatments for NF tumors include surgery, chemotherapy, radiation and medications to control various other symptoms/complications. Sometimes chemo and radiation are used for tumors that are not cancerous... in these cases these tumors may not be operable or surgery may not be an option! As of right now there is no cure for NF, but researchers are working hard to find a cure!

18. Skeletal abnormalities include scoliosis/kyphosis, tibial dysplasia, osteoperosis, short stature, macrocephaly (large head) and chest wall deformities are frequently seen in people with Neurofibromatosis

19. Neurofibromatosis occurs equally in all races and all genders

20. No two cases of Neurofibromatosis are alike... every person is going to be impacted differently

** Both Reggie and I have Neurofibromatosis. You can see here how our symptoms are very different!**

21. People who have NF-1 tend to show symptoms by the time they are 10 years old

22. Less than 1% of people with NF-1 will have the following complications: early or late onset puberty, being too tall/too short, excessively itchy skin, hormonal imbalances or having brain tumors other than optic nerve gliomas

23. People with NF-2 tend to show symptoms by the time they are in their late teens to early 20's

24. People with Schwannomatosis can be symptom free until they are 40 years of age

25. The most common problem that people with Schwannomatosis face are issues with chronic pain. This is usually the first symptom that appears before a person is diagnosed.

26. Schwannomatosis does not share the same genetic patterns than NF-1 and NF-2 do. It tends to skip generations... so your grandma could have it. then your mom may not have it, and then you could have it.

27. It is not entirely known if there are things that trigger tumor growth. It seems that there are periods of tumor growth during puberty and pregnancy.

28. 1 in 3 people with Neurofibromatosis have a plexiform neurofibroma

29. NF is NOT the Elephant Man Disease. It is actually hypothesized that the "Elephant Man" had a disorder called Proteus Syndrome, which causes there to be an overgrowth of tissues

30. NF can also be called von Recklinghausen Disease

31. Neurofibromatosis is not contagious. People with this condition are no different than those from the general population. Help me raise awareness by sharing these facts, and commenting below with your own NF Awareness Facts... this is just a very small amount of information on NF!!!

- Court :)



  1. #15 is the one that caught my eye. Are you going to give a test on this list? Multiple choice? true or false? I hope people do learn a few things in this month.

    1. Just for you I'll create a quiz! Ant format of your liking too ;)

  2. I hardly talk about my NF. Many people have no clue that I have it. I was diagnosed when I was an infant.. but wasn't really affected until I was a teenager. I have scars on my face now from basically digging into my own skin, as I truly believed that I had little neurofibros in my face that fared up from a bad pimple or it was affected by a hair follicle.. cant explain,I know what I picked out of my face as I have had tumors surgically removed already. They were the same substance. I finally was sent to a dermatologist who apparently has other NF patients. Because I have a very mild form of NF1.. the doctor quite literally looked at me for 2 seconds, before he said kinda rudely.."you dont have NF".. there's no way.. then showed me a picture of someone who had a horrible form of it, and said thats what NF looks like, this is what my other patients look like. He then proceeded to talk to me about sunscreen for half an hour..and in grown hairs. He completely disregarded the fact that I had already had several tumors removed and confirmed by a LAB that they were neurofibromas. I didn't have the thick skin then like I do now, or I would have spoken up. I didn't say a word to him the rest of the time. I was mad and thought he was a very uneducated doctor for supposedly treating other NF patients... #20 is what caught my attention... No two cases of NF are the same!! I have a mild form of it which I'm thankful for.. but I have still been affected by it.

    1. Thank you for sharing your story! Your story just confirms why we need to educate people on NF!

  3. My son and I both have NF, it's nice to see information on it. My son has adhd combined.The school has asked many times how NF affects him, it will be nice to direct them to this article. Thanks so much.

    1. Thank you so much for sharing your story, I hope this article brings a little bit of clarity to some of those who don't know a lot about NF!!!

  4. Thanks for sharing this...someday I really Hope to meet all of is good to know that I am not along in my suffering...

    1. I hope I get to meet you one day too! It's great to have such a supportive community!

  5. Thank you for putting this together. I have shared this a few times on my wall. And my friends have shared it themselves. I like it is simple and easy for everyone to understand. No big fancy words that have you looking up before you read on.

    I am 39 years old my son is 13, we both have NF1, which was past down from my mom. It skipped my daughter. Thank you so much

    1. Thank you so much for sharing my post!!! I hope it has helped you spread some NF awareness :)

  6. I came over from Reds! Congratulations on your graduation! Thank you for bringing awareness to Neurofibrmatosis. My husband has two rare diseases Trigeminal Neuralgia and Alpha 1 Antitrypsin Deficiency. So I understand how rare disorders can be missed by Doctors:(

  7. I came over from Reds! Congratulations on your graduation! Thank you for bringing awareness to Neurofibrmatosis. My husband has two rare diseases Trigeminal Neuralgia and Alpha 1 Antitrypsin Deficiency. So I understand how rare disorders can be missed by Doctors:(

    1. Thank you so much for the comment! It can definitely be difficult, and sometimes its hard to get proper care when there is so little knowledge about certain conditions! I hope your husband is well!

  8. Me and my daughter have nf1 we both have the cafe spots and lisch nodules other than we don't have any of the learning disability quite actually she is the smarted out of her class she is 7.I only struggle with math in school which was really hard.But I got thru it and also went to college and got my masters degree in Business Management so to all the young kids out there who are struggling in school don't give up cause I had a school consler said I will not make it through my first year of college and she was right I didn't make it I MADE IT THROUGH 4 years:).

  9. Everyone with NF should get signed up on the Neurofibromatosis Network through Inspire message board. There is a lot of great information on there and great people dealing with the same things that we deal with.