Monday, May 1, 2017

31 Neurofibromatosis Awareness Facts!

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 a chromosome.



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

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!!!




Monday, April 10, 2017

Thank You

Wow! I recently hit 50,000 page views, and as a thank you to everyone who has read, I wanted to write a special post thanking everyone for their support over the years. All the positive and negative experiences have made a huge impact on my life!

Let's start with the positive experiences...

Thank you to the pediatrician who diagnosed me with Neurofibromatosis 20 years ago. Thank you for giving me a definitive diagnosis. Without your knowledge on NF, I seriously wonder whether or not I would have ever been diagnosed with NF. Although my medical journey has been incredibly rocky, frustrating and at times draining, I can't imagine how much worse it could have been without my diagnosis.

Thank you to the teachers who were so patient with me in high school when I began missing so much school because of doctors appointments, tests, scans, and follow up visits. You all made some the darkest and scariest times in my life more bearable. Thank you for being so understanding.

Thank you to the nurse practitioner who literally saved my life when I was in the thralls of anorexia and depression. Thank you for confronting me head on, and for not dancing around the subject. You have changed my life in more ways than you will ever know. Thank you for inspiring me to make a change in the lives of sick individuals. Thank you for giving me such an incredible person to look up to.

Thank you to all the doctors who tirelessly worked with me to get to the root of all of my health issues. I know I was NOT an easy patient. Thank you for never giving up on me, and for directing me to the right place when you exhausted all of your resources. Thank you for all of your kindness, compassion and genuine smiles. You all made my journey through the health care system so much easier.

Thank you to all my friends who have stood by my side as I went through all my weird stages. You've been such a source of solidarity for me and I know I would not be where I am today without your conditional love and support.

Thank you to my family, my best friend Carlene, my boyfriend, Desiree, Scott, Tracy and each and every person in the NF community... you all have made an impact on my life in so many different ways I don't think this post would let me list them all!

Thank you to the 50,000 plus readers who have stumbled across this blog, I never anticipated it to go as far as it has. Thank you just doesn't seem to cut it!


Now it's time for the negative experiences... 


Thank you to the kids in elementary school who relentlessly bullied me for the way I looked. Thanks for judging me for my size, the birthmarks that covered my body and for actually pushing me into a swimming pool because you thought I was "gross". Although I didn't understand at the time why I deserved to be treated so poorly, I've come to realize all you guys were doing was projecting your own crap on someone who was just slightly more helpless.

Thank you to to doctor who doubted me when I went to the Mayo Clinic, and actually went as far as labeling me as a hypochondriac at the tender age of 16. Thank you for actually laughing in my face when I presented you with an extremely detailed diary of how, when and where my headaches affected me most. I appreciate your cold demeanor, lack of empathy and judgmental attitude. Thanks for accusing me of "attention seeking" and "making up my entire diagnosis".

Thank you to all the teachers who gave me grief when I missed so much school to attend doctors appointments, tests, scans and follow up visits. I give a thumbs up to the teacher who actually gave me ADDITIONAL homework when I had a spinal tap because "I would have the time to do it". Rock on.

Thank you to the person who laughed at the poster I made in high school about NF right before I was going to come clean about my condition. That did wonders for my ego.

Thanks to the patient who said I was never going to go anywhere because I was "too small to be taken seriously as a nurse". I appreciate your lack of self confidence and ability to pick on someone who is almost 3 times younger than you.


So as you can see, I have MANY people to thank for getting me where I am today. Not every experience has been positive, but each experience has in some way or another impacted my life. Each negative experience has just reminded me that I am stronger than I thought, and each positive experience just reminds me that I have absolutely everything I need in this world. Thank you really does not seem like enough to express how grateful I am for the experiences I have had thus far, so I want to thank each and everyone of you from the bottom of my heart. 

- Court




Thursday, March 30, 2017

Question & Answer

Hey friends! Thanks for checking this blog out, and thank you to the amazing people who contributed questions to this months blog! I thought it might be a cool idea to see what YOU all wanted to learn about, so take a look at some of the really great questions that were asked! If anyone has any further questions just comment in the comment section below and I will answer them to the best of my ability :) 


Q: How do you tell your children about Neurofibromatosis?
A: Honestly, I think this one is totally dependent on the child and the family circumstances. You need to base your education on the child's developmental level, and ability to comprehend the information. I remember when I turned 13 my parents gave me a printed handout about Neurofibromatosis and told me to read through it and ask any questions that I had. Considering I didn't really have any issues until later in my teen years, this was a good method for my parents to use! Some research does suggest however that involving children in their diagnosis a young age helps them gain more insight into their condition.

For younger children, talk to them in terms you know they will understand. Don't plan on telling them lots of things the first time you talk to them, you will likely overwhelm them and they will probably ask you lots of questions! Make sure to keep your language simple, and don't include any scary information like "Sometimes these tumours can become cancerous." Instead, use terms like:

“This doctor sees lots of children with brown patches on their skin. Doctors call these a special name: cafe au lait patches...”

** Since I do not have children I had to rely heavily on Google for this answer... I hope it helps you guys out! **

Q: If and when you were to have a baby, what are they chances you would pass NF onto your child? Are there any procedures or medications that can prevent your baby from having NF?
A: Neurofibromatosis is an autosomal dominant condition, meaning that the person who has it has a 50% chance of passing it onto their child regardless if their partner does or does not have the condition. Also, if a parent has a severe case of NF, it does not mean that their child will have a severe case, and vise versa. If a parent has NF-1 they cannot pass on NF-2, and if they have NF-2 they cannot pass on NF-1.

Pregnancy and Neurofibromatosis can have many different manifestations. Some research links tumour growth with fluctuations in hormone levels, so women who have NF and are pregnant frequently see tumour growth in their pregnancies. Some research studies have also shown pregnant women with NF to suffer from more complications such as gestational hypertension, preeclampsia, intrauterine growth restriction and have higher rates of needing a cesarean section. MOST women who are pregnant and have NF tend to have very few complications, but need very close monitoring by a trained obstitrician!

Now, in terms of preventing an offspring from developing NF... there are new methods and techniques to make this happen! In vetro fertilization can be a useful technique for couples who are looking to get pregnant. There is a therapy (I'll be darned if I can find the name of it) where the NF gene can be isolated and thereby not be a "chosen" embryo for women to have implanted! Super cool hey?!



** Just a note: 50% of NF cases are due to a spontaneous mutation of a chromosome, which means a parent does not have to have the condition in order for their child to get it... it occurs because of a random and unfortunate mutation of a gene. Both NF-1 and NF-2 are just as likely to have spontaneous mutations **

Q: Can you have NF-1 and NF-2?
A: YES! You can have have both Neurofibromatosis Type 1 and Neurofibromatosis Type-2. According to Boston Children's Hospital it is very rare to have both types. Neurofibromatosis Type 1 is a mutation of chromosome 17, while Neurofibromatosis Type 2 is a mutation of chromosome 22. Although you can have both types, NF-1 will never turn into Type 2 and vise versa. Also, just because you have internal tumours does not mean that you have NF-2, many people with Type 1 have internal tumours... get genetically tested if your doctor is telling you that you have both!

Q: What is the typical age that people get diagnosed with NF?
A: Typically, Neurofibromatosis Type 1 is diagnosed early in childhood, while Neurofibromatosis Type 2 can manifest in early childhood, adolescence and sometimes early adulthood.

Q: Is NF more common in males or females?
A: NF does not discriminate against, age, race, or gender. An equal number of males and females will have Neurofibromatosis.

Q: Pain is quite common in Neurofibromatosis. Are there common levels of pain or locations of pain? What are some pain management techniques? 
A: There is actually no common location for pain to manifest in Neurofibromatosis. Many different manifestations can cause pain, such a plexiform neurofibroma growth, bone abnormalities such as scoliosis, tumour growth and location of subcutaneous (under the skin tumours). I personally really struggle with chronic headaches and back pain related to my scoliosis. I've had so many struggles with dealing with chronic pain over the years, and seem to be an anomaly as no pain management techniques seem to be effective for me. However, typically things like various different types of medications can work to control pain, alternative therapies such as massage and chiropractic therapy, dietary and lifestyle management can work to control pain. I've learned as a nurse that pain is incredibly subjective, and what might be 10/10 pain for someone might be a 3-4/10 on the pain scale for someone else. I usually like to ask my patients if their pain is tolerable, and if they were at home if they would take something to manage their pain. If you or a loved one is suffering from chronic pain DO NOT GET DISCOURAGED. Try multiple different things, you might just be surprised what works and what doesn't.



Q: What would have been different about you and your life if you didn't have NF? How has it positively influenced your life?
A: Honestly I think everything would be different! My entire life story would be re-written!Most of what I have been through and choices that I have made have been in relation to my NF. If I didn't have NF, I'm not sure I would be in the career I am in, I wouldn't have met some of the amazing people that I have through different NF organizations... I would not be writing this blog! Although there have been many times that I have cursed my condition and have wished that I didn't have to deal with it, ultimately it has made me into me! I'm stronger, more dedicated, more caring and understanding because of some unfortunate circumstances that I have faced at a young age.

Q: Has your NF impacted your dating life at all? When do you tell your significant other?
A: Yup! It sure has! All through high school I felt like I was different, and considering I didn't accept myself for who I was, I didn't understand why someone else would accept me. I had (and still have) many issues with self-confidence, body image and so on, so that made dating almost impossible in my teenage years. I didn't date at all through high school or university, and only entered into my first relationship last year when I was 22.

My circumstance was unique, I was already friends with my boyfriend before we started dating and he actually came to a fundraiser I hosted with my not-for-profit group and listened to me speak! So he already knew about my health and history before we started dating.... But if you're not as lucky as I am, I don't think there is a "time" to tell your significant other about your health... you just have to do it when the time feels right! I mean I probably wouldn't say anything on the first date or the first time you meet, but you'll know when the time is right!If the relationship is meant to be they will be accepting!



Thanks for tuning in guys.... I had so many questions that I will have to post a second Q & A post!

- Court

References: 
http://www.childrenshospital.org/conditions-and-treatments/conditions/neurofibromatosis/symptoms-and-causes
https://rarediseases.org/rare-diseases/neurofibromatosis-2/ 
http://www.aans.org/Patient%20Information/Conditions%20and%20Treatments/Neurofibromatosis.aspx
https://www.nfauk.org/what-is-neurofibromatosis/nf-type-1/what-to-expect-with-nf1/

Monday, March 6, 2017

Choices

Whether you know this or not, we make hundreds, if not thousands of choices in a day. Some of these choices are super simple, like what to have on your toast in the morning, or choosing what route you want to take to work. Some choices in life, aren't so easy. And you know what? That's okay. 

I've made a lot of choices in my life that I am not proud of. I hid who I was from other people for the first 18 years of my life. I lied to my friends when they asked me if I was okay, because I didn't know how to cope outside of myself. I lived my life as if I was only a diagnosis, not a person who was deserving of love, compassion and understanding. I made a choice to hide who I was, for fear of rejection. 

I understand very well why some people make the choices that they do. I get that sometimes hiding your fears, worries, and ambivalence is so much easier than approaching your daemons. It's easier to ignore a problem then to face it head on. That's exactly the mentality I had when I was a teenager. I thought ignoring the fact that I had a lifelong medical condition would make it go away, or somehow lessen the blow. I made the choice to think that I was less of a person for not being able to control the fact that I had a brain tumor that was inoperable. 

Nobody could have made that choice for me, and nobody could have changed my mind. I remember so clearly the conversation my mom and I had coming home from a specialist appointment back when I was in grade nine: 

Mom: "Courtney, why don't you just tell people?! Tell them about who you truly are, what you're going through. People are going to accept you!" 

Courtney: "No, I don't want to. People are going to judge me and treat me differently"

Mom: "Courtney, if they treat you differently do they really deserve your time or your energy?!"

Now, I knew that my Mom was right. I knew that I shouldn't care what others thought, or how I would be treated once people found out. But I still made the choice to hide in the shadows. My Mom couldn't have changed my mind, she wouldn't have been able to persuade me. I had to be ready to make that choice, and I wasn't. You can't force people to make decisions they aren't ready to make. 

I'm sure you all have dealt with this at some point in your lives. Maybe your best friend made a irrational decision to move to some foreign nation, or your significant other decided to drop out of school and join a rock band. Maybe your parents sold all their personal assets and bought some vacation home in a remote town on an island you never heard of. Sure, maybe you don't agree with the choices they made, but they aren't your choices to make. You don't get a say. 

I think what I'm trying to say here, in more or less terms, is that you, your friends, family, and anyone that is important in your life has choices they need to make on a daily basis. You don'y get to control their choices, the only choices you have control over, are yours. Nobody would have been able to stop me when I made the decision almost 10 years ago to keep my Neurofibromatosis a secret, and nobody would have been able to stop me 5 years ago when I decided to come clean. I made those decisions. Me. I made them.  The most important thing to me was, I had people by my side the entire way. I had a community, no, make that a village, of support. 

You can't let other people's choices impact how you live your life. There is nothing that I (or you) can do to change the life path people are going to go down. Sure, you can be there to love and support those people (like my parents did for me), but you won't be able to make an impact on them until they are ready for change. You can't make choices for them, and you need to learn how to be okay with the paths that other people are taking in life. You need to know, that YOUR choices, do NOT impact the choices that others make. That's on them.

- Court 







Thursday, February 2, 2017

Lets Talk About Vulnerability

I can't think of anything more terrifying than being vulnerable. To put it quite frank, vulnerability sucks. Who likes the feeling of being completely, and utterly exposed? Who wants to put their emotional susceptibility on full display for others to rummage through and find weak links... loopholes that could parade around our deepest insecurities.

I get it. I found ways to deflect vulnerability for years. I encased myself in an emotional armour. I taught myself how to divert feelings, emotions, thoughts and behaviours. I used my lack of vulnerability as my own personal weapon, and it was powerful.

I look back now at what I thought was the most ill defining aspect of my life, and I shudder at the 13 year old perspective of myself. My kryptonite was my own insecurity, my fear of not being good enough for myself. It infuriates me that I spent so many years of my life hiding me, and emitting this false sense of identity. I was afraid to be vulnerable with myself because I was afraid that I wouldn't like what I saw. I was afraid that other people wouldn't like who I was.

I grew up wanting people to like me. Don't get me wrong, my parents never once told me that I needed to be well liked by everyone I met. This is just something that I had been hardwired with. I was a Type A Personality People Pleaser. This persona that I embraced as a young child never manifested into much until I started struggling with my Neurofibromatosis diagnosis. I had been this so called "normal" person for the first 13 years of my life, and I felt like the diagnosis was slowly taking away my life, leaching the person who I wanted to be right out of me. I didn't understand how I could be this extraordinary people pleaser with a brain tumour growing rampid in my skull, or tumours that could decide at any point to wreak havoc in my body. Doctors appointments, medications, tests, lab results.... this is who I thought I had to be. I thought I had to be a diagnosis.

Although I thought I used my emotions as a shield, it really turns out that I became everything I never wanted to be. I was my anger. I was my resentment. I was this bitter child who ran from vulnerability, and ended up a miserable ball of goo (pretty picture hey?). I wasn't the happy ray of sunshine that I once was. I wasn't the happy go lucky girl that people had grown to know. I wasn't me anymore. My fear of vulnerability took away my will to be myself.

Eventually, I decided I was sick of it. I was absolutely exhausted running from me. So, slowly, and ever so painfully I began to slowly peel off the emotional armour. Piece by piece. I put my weapon away. I was tired of being seen, and not heard. I wanted me, and all of me to be seen.

You see, I learned something during the beginning stages of my transformation. Vulnerability and pain are very much similar, in that they are both designed to be felt. Vulnerability, I learned, was not all that bad. I remember stumbling across this quote, and it has resonated with me for several years:

"What makes you vulnerable, makes you beautiful" - Brene Brown

I realized, that what I was most afraid of, was what made me beautiful. I was different, but that difference could be used as a catalyst for change. Instead of waking up everyday and putting on my emotional armour, I put on an armour of courage and resiliency. I internally accepted the fact that my inner "Type A Personality People Pleaser" might experience some discomfort during the process of self realization, but that self-growth needed to occur if I wanted to go anywhere in life.

Today, I still struggle with the aspect of vulnerability, but instead of running for the hills when I am confronted with it, I open my arms to the possibilities it may bring. Every time I post a blog, I am vulnerable. Every time I get up in front of a crowd and speak about my life, I am vulnerable. Every time I speak my mind... guess what, I AM VULNERABLE.

Now that I have likely bored you with all this talk about vulnerability and what it means to me, how its changed my life and so on, you might be wondering:

"Courtney, how can I be vulnerable."

The answer my friends, is quite simple. All you have to do it be courageous. Vulnerability follows in the footsteps of courage. I am going to leave you all now with yet another quote by the fabulous Brene Brown, and I hope this resonates with you:

"Most people believe vulnerability is weakness. But really, vulnerability is courage. We must ask ourselves...are we will to show up and be seen?"

-- Court