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 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 have never been told the two could be related before and 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, 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 

Tuesday, July 19, 2016

Thank You

I want to say thank you. Thank you to everyone who has read my blog, thank you to everyone who has sent me words of encouragement, and thank you to those of you who have supported me through some of the hardest years of my life.

Growing up not knowing anyone with Neurofibromatosis was extremely hard. I was the only person living in my family with the condition, which left me feeling incredibly alone. I would never wish my condition on another person, but when I was younger I wished with all my heart that someone close to me would have the condition, just so that I could have someone to talk to.

My parents were always there for me, don't get me wrong. I had one of the strongest support systems out there. My parents were always there to hold my hand, to pick up the pieces when I had a crummy day, and to continuously cheer me on. They were there for test results, procedures, and hospital admissions. But I always wanted something more. I wanted a genuine connection with someone who knew exactly what I was going through.

Lucky enough for me, I live in a time where social media is a prominent feature in most peoples lives. For most people. social media helps you stay in contact with people you may otherwise not talk to, but for me it offered a place of sanctuary. Online, I found dozens of people living with NF. I found people who were going through things that I had been through. They offered words of advice, shared their stories, but most importantly, shared hope. Although much of the advice that was given to me from strangers on the internet was almost identical to the advice that my family gave me, something was different about it. It came from a direct source.

After connecting with so many people through avenues such as Facebook, I decided that I wanted to provide a place where people can share stories, ask questions and inspire others to be the best version of themselves. After much pondering, I decided that I wanted to start a blog, and tada.... Courtney's Column was born! I never once thought that my posts would receive over 20,000 views, but as of last week that goal was met! My posts (and my guest writers posts) have been viewed all over the world, including places such as Japan, Spain, Chile and Australia.

So again, I want to say thank you. Thank you to my adopted NF family. Thank you to the incredible support system I have developed online, and in person. Thank you to everyone who has accepted me for who I truly am. Thank you for not only giving me a voice, but for also listening to it. Without the amazing support network I have developed over the years I really don't know where I would be today.

I challenge each and everyone of you today to speak up, use your voice. Share what you are passionate about! Believe me, you just might be surprised by the results :)





Monday, June 6, 2016

Let it Go

I had the incredible opportunity to have my story featured in !nsp!re Magazine, which is published by BCNF and edited by the incredible Desiree Sher. Feel free to click the link below to go directly to the magazine itself (and see several other super cool stories), or you can read my entry below! 




Let it Go

The last thing anyone wants to be is different.

Conformity and social norms are celebrated, and it seems many people alter themselves to seek validation and acceptance from their peers. It breaks my heart that people who try nothing harder than to be themselves are segregated, and labeled as "different".

I always used to be afraid of that... to be the "odd man out". I kept a secret, a might big one that is, for 18 years of my life because of my immense fear of people finding out my life story. The last thing I wanted people to know was how my body grew tumors everywhere, how my bones were deformed, how my hormones didn't work, and how my life had been consumed by severe anorexia and depression. Why was I hiding such an integral part of myself? Because I was afraid people were going to find out I had Neurofibromatosis.

I did everything in my power to keep my life a secret from people.

When I missed school because of a doctors appointment- told my friends that I was out with teh flu! When I went home because my head felt like it was about to explode from the pain- I was going to the dentist! I was able to lead what really was a second life for almost 18 years before I started to lose sight of who I really was. My life was filled with lies and illusions, and I wanted it all to stop.

My name is Courtney Willoughby. I am 22 years old and was diagnosed with Neurofibromatosis when I was three years old. I lived a very normal childhood, and really didn't know I was "different" until I had a plexiform tumor removed from my back when I was 13. That was when my doctors found an inoperable brain tumor that appeared to be taking my hypothalamus and pituitary gland hostage. Subsequently, my diagnoses included scoliosis, hypopituitarism, growth hormone deficiency, chronic daily headaches, an overactive bladder and ribbon rib deformity. Additionally, I had tumors located in my abdomen, pelvis, arms, legs and ear. I was absolutely devastated by these diagnoses. I thought that this meant my life was over. In my mind, I was different, and that terrified me. Who was going to accept me now?

I soon began harbouring all my fears and anxieties regarding my health until those thoughts essentially ate me alive. I was a hermit to my own thoughts. I constantly feared people would find out about my genetic condition, the "thing" that was taking my life over. All I could think about was how unfair my life was. It was unfair that I had to live with this condition. It was unfair that I had seen 36 doctors in only nine years of my life. It was unfair how I had to constantly wake up in pain, and go to bed with the same pain that failed to be soothed by anything. My thoughts took me to some very dark places, places that I never want to revisit.

I spent about three years of my life in that dark place and then one day I was ready to say "No More!" I was tired of being an inauthentic version of myself. I thought it was time to start coming out of my shell.

It was at this point in my life that I had the incredible opportunity to meet Reggie Bibbs. Reggie is the founder pf the Just Ask Foundation, and is a valuable crusader in raising awareness for Neurofibromatosis.

I can remember every detail of our first meeting of the man that would become my hero. Reggie saved me. After meeting Reggie and hearing him speak about overcoming adversity and embracing your uniqueness, I was inspired to make a change. I came home after meeting Reggie, feeling refreshed. It's like someone hit the "restart" button in my brain. I suddenly felt like a different person.

I came clean with family, friends, and loved ones via a Facebook post. It seemed simple to me, and honestly I didn't expect much of a response. I was however, overwhelmed by the number of people responding and commenting on my post, and even sending me private messages with words of encouragement. This is the point in my life where I decided to "Let it Go", as Queen Elsa said in the movie Frozen.

My philosophies on life changed when I realized my priority in life didn't have to be my Neurofibromatosis. I realized that I didn't have to be my diagnosis. Sure, I was a person living with a chronic condition, but that didn't take away any of my worth in this world. I realized people were going to think whatever they wanted about me, and I could try my best to "fit in". Ultimately I realized that I wanted to choose my individuality over conformity.

Let me break something to you gently. You might already know this.

There are seven billion people living in this world. so there is a pretty good chance that a few of those people are going to dislike you. It's as simple as that. So why would you change yourself for those few people, when you could be living a life where you love yourself?!

You are the only you that you get in this world. and you need to love yourself regardless of your flaws and imperfections. You wake up as yourself, and go to bed the same person each day- you can't fight biology. I tried for so long to be a person that I thought everyone else wanted me to be, and ended up completely miserable, isolated and alone. It wasn't until I accepted that I was a worthy individual regardless of my imperfections, that I really began to accept myself for who I was- NF diagnosis and all.

Life is short, I encourage you to be brave. Be courageous. Fight for what you believe in and find your passion in life. We live in a world full of stress and negativity, but no matter how much you worry about the future you cannot change the outcome. Embrace the here and now, and be the most authentic version of yourself. Trust me, you might just like what you find when you leave your insecurities behind.

- Court

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 :)



References

http://www.ctf.org/Learn-About-NF/Facts-Statistics.html
http://www.ctf.org/
http://emedicine.medscape.com/article/950151-overview 
http://emedicine.medscape.com/article/911900-overview#a5 
http://emedicine.medscape.com/article/1219222-overview