Monday, September 19, 2016

Christina's Story

Hello friends! I am so pleased and honoured to be sharing another guest blog, from my dear friend Christina. Christina was the VERY first person I ever reached out to in regards to my NF, and she helped shape the way that I viewed my condition. So please take a moment and read her blog post :) 


My whole life growing up I never once questioned what those “weird bumps” all over my grandmother, dad, several aunts and one uncle were; I had accepted them for who they were and not for what they looked like.  I was told at a young age that the brown spots all over my body, including the large one on my right bicep, were called café-au-lait spots and that they were something like birthmarks but weren’t birthmarks.  End of discussion. I kind of figured that since my grandmother and my dad had these “weird bumps” that I could also.  In my mind I made the decision that should I get these “weird bumps” that I would cover them, especially if they were on my arms and legs.  I planned on wearing long sleeves no matter that the temperature outside was and that I would never wear shorts again.  I was ashamed of them.  I was made fun of because of what my dad looked like.  I had been asked if a toad had peed on him.  I was avoided at times because peers thought he was contagious and that if I touched them they would get these “weird bumps” too.

Let’s jump to my junior year in high school; I was reading in my biology book and came across the term “café-au-lait spots” and FINALLY the name Neurofibromatosis.  I was excited!  I had self-diagnosed myself, but even then I did not really know, or understand, the full extent of the nature of this disorder.  All I had was a name, nothing else; no knowledge of what exactly could happen with having Neurofibromatosis (NF). 

A few years later I had decided to enlist in the United States Air Force.  When meeting with my recruiter I had openly told him I had Neurofibromatosis and he did not say anything about it being a disqualification from entering the military. I was at MEPS (Military Entrance Processing Station) at St. Louis when my dream of serving my country was shattered.  After having my physical done I waited in a lobby to be called to tell me where to go next.  It seemed like eternity while I waited for my name to be called and jumped excitedly when it was. The person behind the desk pushed a paper toward me and told me to sign it and that I was disqualified from the military.  My excitement quickly changed into utter disappointment with tears forming in my eyes as I asked “Why?”  I was told I would have to talk to the Surgeon General to find out why.  Questioning the Surgeon General about my disqualification he bluntly told me “You have Neurofibromatosis.”  I told him my recruiter knew about it all along, and still I was told I could not join ANY branch of the US military with NF.  I tried reasoning that my brother was in the Air Force.  I was told that I could ask for a waiver and it might work.  I had to get a letter from my brother saying that he had NF and that he didn’t have any issues from it. (I did not know that he didn’t have NF or that each child had a 50% chance of inheriting NF from their parent if the parent had it.  I assumed that since I had it so did he.) I was never able to get in contact with him since I didn’t have a phone or a current address for him.  I then decided that I was going to prove to the Surgeon General that I didn’t have any issues from Neurofibromatosis so I went to the library to research it.  In an encyclopedia I read that NF caused “deafness, blindness and mental retardation and in some severe cases death.”   I thought I had had my waiver because I didn’t have any of those issues, and I certainly wasn’t dead.  Sill I didn’t get my waiver and I gave up on my dream of serving my country.

Throughout the years since my military disqualification I decided to live life the best I could, my having Neurofibromatosis was mentally put on the back burner and not much more thought was given to it.  I don’t exactly recall when the dumbbell plexiform appeared on my right wrist and I actually attributed to its appearance to a couple of wrist injuries that I had had when I was around 16.  I didn’t even know that it was a tumor or that its growth was related to Neurofibromatosis.  I wasn’t too worried when café-au-spots appeared on my oldest and youngest two children and I was told that they have NF since I wasn’t effected by my NF.  Little by little and bit by bit over the next few years I gained more information on issues related to NF, not because I was researching it, but because one of my children would develop a medical issue and I would be told it was because of their NF.  I was shocked when I was told that my oldest son’s scoliosis was due to his NF because I had never been told the two could be related before and again I was shocked when I was told that my youngest son’s seizures were also related to his NF. Still I kind of just lived life as it was and not much more thought was given to our Neurofibromatosis.  Again, I had just accepted these things as they were.

 In October of 2008 I decided to get with the times and get a Facebook page and get in contact with my niece so that we could get all the cousins together for a picture with their grandmother. After finding her and looking up people I went to school with, I wanted to see if I could find other people with NF.  I had done a research paper for my biology class in college and was taken aback with what I had found out about NF so I wanted to find others with it too.  I had found so many people with NF that I had to start a second Facebook page for people with NF, and now I have over 800 friends on that page. I even reached out to some people on the “Can Mia get 1,000,000 fans to raise awareness of Neurofibromatosis” and sending them a friend request (this is how I met Courtney).  In 2012 I wanted to be able to meet others with NF so I decided to ask who would like to meet at the St. Louis Zoo for a get together.  With the help of Michael Forbes and Rebecca Damschroder we were able to get around 40 people to attend the event.

 I was hooked on finding out all about NF and I started diving into finding out all about it.  I have become an advocate for NF in the Central Missouri area and with some persistence was able to get Neurofibromatosis Midwest to include the Central Missouri area in their covered area and am the chairperson for the chapter in my area.  I have given talks to my local high school’s genetics and advanced honors biology classes on Neurofibromatosis.  I helped to start a support that meets monthly and now we are in the process of planning a Great Steps for NF walk hopefully the first Saturday in October.  Looking to the future I am in the early stages of doing a fund raiser with silicone bracelets with the slogan “Show-Me your NF and I’ll show you mine” (Missouri is the Show-Me state).  I can truly say that the slogan “I have NF, but NF doesn’t have me” is true in life.  I don’t let my having NF control me or my family.  On a positive note, my youngest son is being granted a wish through Make-A-Wish because of his NF and we will be headed to Washington D.C. soon, but that’s another story for a later time.

- Christina 

Sunday, September 4, 2016

Need for Change

I bet you, that maybe 10 of the 36 physicians that I have seen in my lifetime have heard about Neurofibromatosis. Now that is just hearing about it, I bet only about half of those doctors were actually well educated on NF. For a condition that has a prevalence rate of 1 in 3000 people (for NF-1), I really don't think those numbers are cool... who agrees with me?!

Probably one of my most distinct memories, was when I had to see a specialist regarding the masses that were found in my pelvis. Physicians were unsure if they were tumours, or if they were cysts. I got sent to a specialist in Red Deer, and I had high hopes for the appointment! I remember sitting down in his office with my Mom, and when he asked me if I had any "significant medical history" I told him that I had Neurofibromatosis. He looked at me like I had a second head. 

"What's that?" he asked me. "I've never heard of it before."

I felt myself clench up. I felt the heat rushing to my face. How was this fair to me? How come I had to miss school again to see a doctor who didn't even know what I had?! I was furious. All I kept thinking was "Could you not have maybe looked at my chart before I came in so you maybe had an idea of what you were dealing with?" 

With great reluctance, I began to tell him all about Neurofibromatosis and it's manifestations in the body. I was 16 at the time. I was educating the doctor. I was supposed to be the patient. 

Believe me, this wasn't the last time that this happened. I had several after this doctor inquire about my condition and each time I was met with a doctors puzzled face, I felt just a little more defeated. It wasn't fair that I wasn't getting adequate medical care, and it wasn't fair that I had to constantly suggest what my plan of care should be. 

So I could keep ranting here, or I could suggest some things that the medical community could do to improve on this rather big issue! So here we go:

1. Improve Education on Neurofibromatosis 

So I think it is safe to say, since I went through nursing school, that there is an utter lack of NF education for medical professionals. Take a look below at this picture. This is a passage taken from one of my textbooks (the only textbook might I add that says ANYTHING about NF). 


Three sentences.... THREE SENTENCES? That's it? It's no wonder there is a lack of understanding on what NF can do when there are THREE sentences on it in a medical textbook! And look at how much information is missing! Where does it talk about the types of NF? Or how about the issues people face with learning disabilities? How about the fact that there is no cure? Or that tumour growth can be exacerbated by changes in hormones?  

Looking at this, I don't blame people for not knowing about what NF is! How should you know what it is when that's all they teach you?! I was actually chatting with a 4th year medical student the other day at work and asked her if she had any education on it in school. She told me that she maybe had a lecture or two on it, but definitely not more than 2 hours of education. I was able to teach her a few things about NF and its trademark signs/symptoms. so now at least there is one more educated doctor out there! Horray for awareness! 

2. Improve Funding for NF Research 

Here's a fun little statistic for you. In 2016, Neurofibromatosis received 0.25% of the funding for research that breast cancer did! Last year, breast cancer received well over 6 billion dollars for research purposes, while NF received a little over 15 million. If you calculate that out, breast cancer got 40000% MORE funding than NF did.... 40000%!!!!!

I mean 15 million is great! When I initially started doing my research on how much money NF would receive for research, I was only expecting to see a few million dollars! But when you compare the numbers side by side, it seems like nothing in comparison! 

I'm not saying that breast cancer shouldn't have all that money invested in research, because it certainly should! But medical breakthroughs will not occur without research, and research cannot be done without money...


Now there are a lot of things that could be done to better the care of people who have Neurofibromatosis, but we can't do it all at once. Baby steps my friends! Comment below on how YOU think the medical system could be changed for the better!


-- Court