Thursday, May 17, 2018

31 Neurofibromatosis Facts about ME!

Hey everyone! So some of you might be new to this blog, or maybe you've been faithful followers since the beginning... regardless of how long you've been reading I wanted to share some NF facts about myself! At the beginning of the month, I posted 31 general NF awareness facts, but now I wanted to post 31 facts about how my life has been impacted by NF!

I also just wanted to announce that after this post is published, I am going to be taking an extended hiatus from this blog. No fear, I will be back one day but for now I need to give this blog a rest and focus on some of the other aspects of my life. It has been SUCH a joy writing and spreading awareness, I am thankful for all of the opportunities this blog has given me.

So without further ado, here are the 31 NF facts about ME!

1. I was diagnosed with Neurofibromatosis Type 1 at the age of 3.

2. My diagnosis was a complete fluke. I broke out in shingles when my brother was born, and I was diagnosed with shingles on the spot but she also noticed some of the manifestations of Neurofibromatosis... and that's how I got my diagnosis!

3. I am the first person in my family to be diagnosed with NF, despite that fact that it is genetic.

4. I have a 50% chance of passing NF along to my future children.

5. I was diagnosed with an inoperable hypothalamic glioma (a type of brain tumour) at the age of 13.

6. I named my brain tumour Herman.

7. Herman has not grown at all in the past 11 years! Yay!

8. Although Herman is very small (like the size of a pea), he has caused me to have a hormonal condition called hypopituitarism. This condition is prevalent in less than 1 in 40,000 people.

9. The hypopituitarism caused me to be severely growth hormone deficient. I took daily injection of growth hormones 6 days a week for over  year (side note, the hormone were for overall hormone balance, not growth).

10. I have had well over 15 MRI's in my lifetime. I actually find them kind of soothing...

11. I have had a headache everyday for the past 12 years and nobody knows why.

12. To treat my headaches I have tried everything from pharmaceuticals (which had side effects that made me forget my name) to alternative Chinese medicine (which had side effects that caused violent mood swings).

13. I have scoliosis but have never needed a brace.

14. I have seen over 36 specialists in my lifetime (specialties ranging from neurosurgery to urology to pain management).

15. The furthest away I have ever sought medical care was the Mayo Clinic in Rochester Minnesota. I was there for 10 days and saw 7 different specialists.

16. I have a skeletal rib deformity (ribbon rib deformity) that has impacted the entire left side of my chest. The cardiothoracic surgeon I saw in regards to this said he has never seen a case of it, and will probably never see it again in his lifetime!

17. I have had 3 surgeries to remove tumours off my body (the last one being 10 days ago).

18. No joke, I have a HUGE head. We measured our head circumferences in my grade 12 biology class, and mine was bigger than everyone elses (boys included).

19. I never met anyone else with Neurofibromatosis until I was 17 years old.

20. Nobody except family knew about my NF diagnosis until the end of my Grade 11 year in high school.

21. In 2016 I helped start a not-for-profit organization to help support people living in Alberta with Neurofibromatosis. We are called The Alberta Tumour Foundation.

22. I have spoken on 6 different occasions about my journey with NF (I still get really nervous every single time).

23. I had the incredible opportunity to go back to my old high school and talk about my mental health journey.

24. It's because of my NF diagnosis (and a very special nurse) that I pursued a degree in nursing, and currently work as a Registered Nurse.

25. When I was 6 I wanted to be a neurosurgeon in space.

26. Lucky for me, the only meds I have to be on are antidepressants and an estrogen supplement.

27. I have suffered from anorexia and depression in the past, and my lowest weight was 84 lbs.

28. When I was a pediatric patient, my Mom used to bribe me with food and shopping to get me to appointments in Edmonton (side note: it always worked).

29. I am lucky to call Reggie Bibbs (a MAJOR NF advocate) a very dear friend.

30. In 2013, I was a recipient of the Reggie Bibbs NF Hero Award.

31. I am extremely directionally challenged... you absolutely cannot use words like "north" and "south" with me... I will likely have no clue what you're talking about. Spatial awareness is something that people who have NF will often struggle with.

Well, there you go! There's 31 NF Awareness Facts about yours truly! If you have any more questions, feel free to post them in the comments below.

- Court

Tuesday, May 1, 2018

31 Neurofibromatosis Awareness Facts

May is one of my favourite months! Not only has spring sprung, but it is NF awareness month! Here are 31 NF awareness facts for you... one for each day of the month! I hope you are all able to learn something new, and please SHARE SHARE SHARE this post!

1. The Neurofibromatoses are a group of 3 different genetic conditions that cause tumours to grow throughout the nervous system. The three different types are: Neurofibromatosis Type 1, Neurofibromatosis Type 2, and Schwannomatosis. 

2. Neurofibromatosis is a systemic condition, which means that it can impact ALL systems in the body. 

3. All forms of Neurofibromatosis are genetically dominant, which means that someone who has NF has a 50% chance of passing it onto their offspring. However, more than 50% of NF cases are due to a "spontaneous" mutation of different genes. 

4. Neurofibromatosis Type 1 is the most common form of the disorder. It has a prevalence rate of 1 in 3,000 people. NF-1 makes up approximately 90% of NF cases worldwide. 

5. Neurofibromatosis Type 1 is caused by a mutation in chromosome 17. This chromosome is responsible for making a protein called neurofibromin, which regulates cell growth. People with NF don't have enough neurofibromin, which is what causes uncontrollable tumour growth. 

6. Most people with NF-1 tend to start showing symptoms by the time they are 10 years old. 

7. Cafe-au-lait spots are the most common sign of Neurofibromatosis. Cafe-au-lait spots are caused by an excessive amount of a protein called melanin in the skin. 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.

8. People with Neurofibromatosis are 5 times more likely to have learning disabilities, and to suffer from ADD and ADHD. 

9. 95% of people with Neurofibromatosis have lisch nodules, which are hyperpigmented patches in the eye that do not impede vision.

10. 15-40% of people with NF will be diagnosed with an optic nerve glioma. Most often, these tumors develop in childhood and are very unlikely to develop in adulthood. Typically these tumors are slow growing and have very low malignancy rates. They can however cause vision loss in some people.

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

12. Typically tumours related to Neurofibromatosis are benign, however 5% of NF tumours will become malignant at some point in time.

13. 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 (fun fact, I have ALL of these complications!)

14. 1 in 3 people diagnosed with Neurofibromatosis will have a plexiform neurofibroma. Plexiforms are tumours that arise from multiple nerve endings, and although they tend to be slow growing, can be very painful and disfiguring.

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

16. Neurofibromatosis Type 2 is caused by a mutation of the NF2 gene located on chromosome 22. This gene is responsible for the production of merlin, which helps regulate cellular pathways, maintain cellular shape and regulate cell growth.

17. NF-2 is typically diagnosed later in life as symptoms don't tend to show until the individual is in their late teens or early 20's.

18. Some of the first symptoms to develop in people with NF-2 are problems with balance, ringing in the ears (tinnitus) and gradual hearing loss.

19. 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.

20. Individuals with NF-2 are more likely to develop cataracts (clouding of the cornea) in childhood. If an individual develops cataracts he/she may or may not completely lose their sight.

21. People with NF-2 typically have fewer cafe-au-lait spots than those who have NF-1.

22.  People with NF-2 may also experience spasms of the facial muscles; generalized muscle weakness, numbness, pain, and/or partial paralysis; difficulty swallowing; and/or impaired speech.

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

24. Researchers believe that chromosome 22 is also responsible for causing Schwannomatosis, although different genes are mutated than with the development of NF-2. Some research shows there may be a complete deletion of chromosome 22 with the development of Schwannomatosis.

25. Symptoms of Schwannomatosis typically arise around the age of 40.

26. 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.

27. 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.

28. NF can also be called von Recklinghausen Disease, although this term is not used frequently anymore.

29. Anyone can have Neurofibromatosis. It does not discriminate against age, race or gender.

30. 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

31. 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! This makes it more common than Cystic Fibrosis, Huntington's, and Muscular Dystrophy... COMBINED!

I hope you all learned something new! Comment below what you learned, or what you would like to learn about in the future!

- Court

Wednesday, March 28, 2018

Hormone Update

For any of you who may have read my last blog post, you would know that I was recently started on hormone replacement therapy. If you didn't read my last blog post... well, I've been started on hormone replacement therapy! I'm warning you now like I did with the last post, if you are uncomfortable with female related issues this is NOT the post for you!

For quite a while there, I was REALLY struggling with the side effects of the medication. I was put on a medication called "Estradot", and I was actually placed on the highest dose, 100 mcg. It's a patch that gets placed on my skin, and is changed every 3 days. It releases a constant dose of medication, and is much safer than taking it orally. With the patch, it bypasses the liver and research shows it creates more stable "serum levels" than with oral doses. Primarily, the side effects I was experiencing were breast tenderness to the point showering was painful, mood swings (I cried when I dropped a peanut butter cup), headaches, backaches, skin irritation and one of the most annoying ones... bloating. Now, I REALLY struggled posting this photo because I have wicked issues with body image, but take a gander at how swollen this stuff made me. 

This was me post night shift, looking about 20 weeks pregnant (just to be clear, I am NOT pregnant)

Still bloated/swollen, but looking much better about 6 hours later 

All in all, I was hating life on this medication. For one of the first times in my life, I was actually resentful of my condition. I was MAD about having Neurofibromatosis. I was MAD about having a brain tumour, and I was MAD that I am already pre-osteoperotic at the ripe ol' age of 24. I felt sorry for myself, and it seems silly over some symptoms that really, I could live with... but it's the fact that I had to deal with them in the first place. My boyfriend asked me if I would rather have the symptoms related to the patch, or have brittle bones because of osteoperosis and I cried because I don't want to have to deal with either. 

So fed up with symptoms that weren't seeming to go away, I booked an appointment with my endocrinologist and I asked him (begged really) for him to decrease my dose. He agreed that these symptoms suck (bless his heart) and he cut my dose in HALF! He told me that the lower dose will not be enough to protect my bones, but he forgot I was a "lightweight" and that he didn't want me to suffer unnecessarily. 

So the plan is for me to be on 50 mcg for six months, then increase my dose back up to the 100 mcg. My body went from having next to no estrogen, to being put on the highest dose possible... he said that the fluctuations in hormones I was experiencing were similar to what pregnant women face (to all of you who are pregnant, my heart goes out to you), and that hopefully I will build a tolerance over the next 6 months!

Now that I have been on the lower dose for more than 2 weeks I am happy to report I am feeling MUCH better, and am only experiencing some very mild bloating! That's it!

So moral of the story is friends, advocate for yourself! I would have lived with looking 6 months pregnant for who knows how long if I didn't simply stand up for myself. It was SO totally worth it!

- Court 

Sunday, March 4, 2018

Hormone Replacement Therapy

Well hello everyone! I promise I haven't forgotten about this blog, I've just been rather absent from writing lately. I've actually been really feeling under the weather, and am only starting to feel a little bit more like myself in the last few days.

So, if any of you have been following my blog, you would know that I had some extensive hormone testing back in October. It was just a check in with my endocrinologist, and the results were posted in my last blog. Th results of my hormone testing showed that my pituitary and hypothalamus don't properly communicate with one another... although both parts of my brain technically "work." Both my endocrinologist and another specialist that I saw in January both think that Herman (my brain tumour) is intercepting all the important intel that is supposed to freely run between the two parts of the brain.

I also had MORE hormone testing (because, who doesn't love getting blood work done), which had some concerning results. My estrogen is pretty much in the toilet, almost to the point where it wasn't registering on the charts. My progesterone levels were also pretty stagnant, which means that my body isn't ovulating properly.


Overall, my body is confused and not functioning properly in terms of hormones. My levels are VERY low, which does unfortunately coincide with my diagnosis of hypopituitarism. My endocrinologist highly recommended that I start hormone replacement therapy, to help my body function the way it should.

Now, let me tell you... I was NOT overly thrilled about this idea. There is inconclusive research that shows tumour growth can be exacerbated by times the body creates more hormones (such as puberty and pregnancy) and I was concerned that starting these medications would mess with the tumour issues I already have. However, my physician reassured me that she did her own research, and concluded that the risks of me NOT being on hormones far exceeded me being on them (let me remind you, my docs believe I will be fully osteoperotic by the time I'm 40 based off my crummy hormones).

SOOOO... I have started the hormone replacement therapy and man, does it SUCK. I get to wear a little patch (pictured below) and I change it every 3 days. The side effects have been very undesirable. Ladies, think about how much PMS sucks (and men, if you're still reading think about your ladies and how they are when they're PMS'ing...) Now, I've had persistent PMS symptoms for well over 3 weeks now. Really sore boobs, bloating to the point I look pregnant, back pain, hot flashes, an increase in the severity of my headaches and skin irritation to where the patch has been applied. It's kinda hell. Oh, and I also cried when I dropped a peanut butter cup because my mood swings are as unstable as Brad Pitt and Angelina Jolie's relationship.

I've spent some time feeling sorry for myself, and I think that's okay. I'm frustrated. I'm uncomfortable. I'm in pain. I don't want this. I don't want any of it. But unfortunately, it's something that I have to deal with. I was pouting in the car and my boyfriend asked me,

"Would you rather have all these symptoms, or have bones so brittle you can't do anything?"

And I immediately answered,


I don't get that option though, so I need to deal with the cards that I have been dealt. It could be worse, but I also have to be kind to myself and remember that I am allowed to grieve the fact that this diagnosis kinda sucks.

Anyways, I have been in contact with my endocrinologist to see if I could be placed on a lower hormone dose, just because they did place me on the highest one possible... so here's hoping they can help me out!

Go forth and conquer your day friends, you can get over any obstacle put in your way!

- Court

Monday, February 5, 2018

Taylor's Story

Thanks everyone for tuning into my first post of 2018. This year I decided I really want to focus on community and personal stories from people living with Neurofibromatosis. The first story I want to share with you all is of Taylor! Please leave encouraging comments, and support a fellow NF'er! 

        My Name Taylor, I am 20 years old and I was diagnosed with NF when I was born. NF runs on my moms side of the family, my grandmother, brother, uncle as well as my mom have NF.  For me I would never change having NF I think it has made me a stronger person. I have had countless surgeries on my right eye. It is has been de-bulked, laser surgery, and then put in a frontal  sling. I remember being a kid and I would always had a hard time getting along with people because I was different and I  didn’t look like every one. I was bullied a throughout school. I would have nights where I would just cry my self to sleep because  I would just be so tired of feeling different. But every year it got a little bit easier, since everyone I went to school with started to accept the fact that we are all different and it was okay to be.

         I think the worst year for me when was in elementary was when I was in grade 4, the reason why is that I think that was there year where everyone started to find them selves  and who they were. For me I had no idea who I was and I still was getting comfortable on being different. From what I recall my eye was still not looking the greatest and it was still sitting pretty low. This was the year that I was bullied the most by a handful of people in my class. What ever I did it wouldn’t get better or it wouldn’t get worst. I just kinda let it run it course and it eventually stopped. I don’t know if it was because if they got bored or if it was because I stopped caring

        When I go into jr high i had the chance to go to Camp K, in Salt Lake City, Utah. Going it allowed me to meet people who had the same struggles as me and just for one week out out of the summer, I was able to just be my self and where I didn’t need to worry about what people thought of me. I went for 2 summers and they were probably the best times I could ever ask for. Even though I am not close with the people who I went to camp with, I still consider some of the greatest people I will ever meet. I find that with having NF and you meet people who have NF as well your connection and bond happens so fast because you already have something in common and you are able to talk to people and here their experiences with it.

           I think Jr high was also the worst years of my life. In grade 7 I had all of my friends from elementary and we all were super close but then towards the end of the year, I don’t want happened something just changed and this one girl just started to treat me like absolute crap and started to tell me that I don’t belong with them and I couldn’t be friends with them. It was like she was the ring leader and everyone followed her and they just started to tell me, how such a horrible person I was. That went on for months, but the time the year was over I had  two people come to me and say that they shouldn’t have listened to her and one of them became my best friends and to this day she still is.

          I remember when I was in grade 8 I got to the point where I was tired of people always asking me questions, so I decided to make a presentation on NF to explain it to everyone, so I would just need to say it once. But once when I was done and I needed to present it to my class I forgot how much I hate public speaking and to this day I still do.  After me speaking in front of my class I didn’t look different to them anymore, they looked at me almost like I was normal to them. For the rest Jr it was pretty easy because we never had anyone knew what I had and they didn’t care.

        As high school was approaching I don’t remember if i was excited or nervous..  I think it was a bit of both. I was excited for the fact that I was able to be more independent, as I was able to drive and no longer to take the bus. But I was also scared just because I know how people can be, and how terrible they can get. But all and all it was pretty good.

         In grade 10 is when I had surgery, this surgery is where they put the frontal sling it. The sling sits right above my eyebrow and it allows it be lifted so my vision is not going to be effected. But since Calgary is so dry, my vision has always been an issue. But for it being my first year in high school I  didn’t want to miss anything, because my fear was falling behind and failing my class . so I went back to school way sooner then I should have. The rest of high school was pretty easy. We still had issues with my eye being dry so we started to try to find ways to keep my eye not as dry. We tried restias which is a drop that I still use but I’m terrible for using because I don’t bring them with me where I go and I  just forget to put them in general. Other thing that we use and I find that it helps the most is plugs, it just gets placed and you tear duct and it helps retain the moisture in my eye.

        Now being  out of high school and working full time. People only ask when it is super noticeable. About a year ago I was hanging out with friends, there was a moment of silence and my one friends looks at me. and he asked me what was wrong with my eye but when he asked me, he said he never wanted to ask but the wanted too , since we became so close and he just wanted to know.

        I’m going to be forever thankful for having NF I am able to teach someone almost every other day about NF. I have my days where my eye won’t bother me at all and it looks completely normal.  But then I have my days where it is super dry and it just looks painful. In the end my eye is my biggest with having NF. And we still are trying to figure something out that is going to help my eye and not to make it look so dry and painful.