PART 1

Hello, I am the NF1 gene, I am located on chromosomes 17 and I am in the cryogenic area. My gene normally produces a substance called neurofibromin, which prevents my host from getting tumors, so I keep cells from dividing and growing too rapidly. When genes like myself mutate, we produce non-functional neurofibromin that can’t stop the cells from dividing or growing. So, tumors grow all over my host and often have other side effects. If haven’t noticed already, my name indicates that my tumors grow on nerves (indicated by ‘neuro’) . A lot of people wonder why I cause cafe-au-lait spots, but that’s our little secret that all the mutated genes agreed on.

My gene is a pretty stubborn one. We just mutated, that’s it. There isn’t a copy of us, or a missing one, we just decided not to work. I don’t know who started the trend but it caught on pretty fast because it was only discovered in 1882 by a man named von Recklinghausen. My gene mutation is typically hereditary but 30-50% of new cases are not hereditary, they are spontaneous mutations. But one of the best things about our mutation is that we are non-discriminatory, so we can affect anyone no matter what your race or gender! There are also three different types of neurofibromatosis, NF1, NF2 and shwannomatosis. NF1 is progressive, NF2 causes brain tumors while shwannomatosis relatively new and researchers don’t really know a lot about it.

My effects can be pretty devastating. I basically cause the growth of unneeded tumors on your body that are extremely painful. My tumors start to grow in the myelin sheathe, the thin layer that protects nerve fibers. Normally, I grow neurofibromas, which are non-cancerous but occasionally the tumors are cancerous. The biggest tell-tale that you have one of the NF’s is if you have more than 6 cafe-au-lait spots. If you are in your mid-adult years and have never had a abnormal and painful growth before, than you don’t have to worry because my mutation is normally diagnosed in your childhood.

My host’s name is Stevie and he has NF1. He is a 27 year old male who has been living with me since he was born but I have only been prominent for 12 years. Stevie is a super cool dude, he loves to play the guitar, but lately it has been more difficult for him because of the tumors on his hands. Stevie has a girlfriend but she refuses to have kids because their child would have a 50% chance of inheriting the gene from Stevie. It’s unfortunate because if I had the choice I wouldn’t have mutated in Stevie, he is so nice and never gets mad about being a lab rat for the local hospital to help other people around the world.  I do think I really helped Stevie be a better person however, because in the early years, he was always blaming all his problems on his parents (even though they had nothing to do with it because his is a newly mutated gene) but now he is constantly trying to help other who suffer from my mutation friends.

PART 2

I had a lot of questions going into this project about my mutation and a lot of them weren’t answered because there is limited information. My questions consisted of: What is the genetic mutation of neurofibromatosis? When was it discovered? Who discovered the syndrome? Once I had the information, it took me awhile to piece my story together so it made sense to my readers and still used language that described the information clearly.

I used a lot of familiar tools but also a lot of new ones. Most of the new ones I used were journals from medical professionals or clinics that have released facts and information on the syndrome. But I also used a lot of reliable sources like KidsHealth and MedlinePlus. I found the new sources more useful because I knew I could trust the information 100% and I understand the wording they were using because I enjoy learning about biology and how our bodies work and I would love to pursue that in the future.

I used lots of fact-checking. I made sure all of my information was correct by checking multiple sources for the same information. This also helped me figure out the wording I wanted to use to describe how the syndrome works and how you can receive the syndrome. Had I had more time to work on it, I would have used some of the books in the library and contacted some people where neurofibromatosis is their specialty.

I think this project was a little bit of a challenge but I think I came out of it really strong and knowing a lot more than I thought I would. I would have liked to have had more time because I feel I could have used it to my advantage rather than a reason to procrastinate. I would have liked to have found more pictures, but a lot of them were pretty gruesome and I don’t think they would have been good for my digital footprint. I also would have liked to have chosen a different gene mutation. I did end up learning lots of information about my mutation, but I felt so limited to what I could do with the information I had. However, I did really enjoy this project and think it was a good learning experience.