Monday, March 23, 2015

The Dreaded Words...

I think the following 3 words are some of the most dreaded words us NF'ers can ever hear "What is NF?"

Although NF has a prevalence of 1 in 3,000 I am still beyond shocked and frustrated that there is SO little knowledge of NF in the medical community. How could something so common be so mysterious or unknown? NF is more common than Cystic Fibrosis, Muscular Dystrophy, and Tay Sach's ... COMBINED! How is NF still in the dark? I've made this analogy before in previous blog posts, but I'm going to use it again to make a point...

Imagine walking into a doctors office with a common cold. You describe your signs and symptoms, the doctor does a physical exam and takes a look in your throat, listens to your chest with his stethoscope. He (or she) sits there in silence for a minute and finally says "Yeah I'm not really sure what's wrong with you, so I'm going to refer you to another doctor. I've never seen or treated a common cold before." That's how people with NF feel most of the time when seeing a physician.... complete frustration right?

I remember one of the first times that I had a doctor ask me what NF was. I had been referred to a specialist because of some of the tumors that were growing in my abdomen, and their close proximity to my ovaries. My family physician wanted to ensure that these tumors were not growing on my ovaries, so I was shipped off to what was my 5th or 6th specialist. I sat down in his office with my Mom, a little anxious for meeting this new doctor, but hopeful that he would help me get to the bottom of all my problems. When he entered the room he greeted himself and asked me, "So Courtney, what brought you here today?" I replied, "Well, I have Neurofibromatosis, and I have tumors in my abdomen and I need to find out if they are growing on my ovaries or not." Well, I think he gave me one of the blankest stares I had EVER seen.

"Um, what's Neurofibromatosis?" he asked. I was kind of shocked that he was even asking me that question, I mean it's ALL over my chart... he really didn't even look it up before I got there? So I quickly explained to him what NF was and what my journey had been so far with it. "Ohhhh, so you have cancer?!?" he exclaimed after I finished my story.


**face palm.... no I DON'T HAVE CANCER! ** 

So, that ultimately began a LOOOONG road of people constantly asking me what NF was, and having to explain my condition multiple times to different physicians belonging to multiple different specialties. It`s actually rather exhilarating when I meet a doctor who actually knows what NF is, seems silly right?! I've been bounced around lately between family physicians because they either keep moving or retiring on me, but when I met my newest family doctor she asked me "Oh what kind of NF do you have?!" when I told her about my medical history... I felt like throwing my arms around her and giving her the biggest hug possible. FINALLY SOMEONE ACTUALLY UNDERSTOOD MY MEDICAL CONDITION WITHOUT LOOKING IT UP! 

So share this blog till you can't hit share anymore... let's change this trend of people not knowing what NF is! Thanks for reading guys!

Court

Monday, March 9, 2015

The Hardest Diagnosis

I've been asked several times what has been the "hardest" diagnosis to deal with was, so I'm going to take a step away from sharing my research on NF this week and share one of my personal stories =)

Regardless of the diagnosis, it is never easy being told you have some life long condition, whether it is a complication of a pre-existing illness (such as NF) or perhaps a new diagnosis in a person who was previously healthy. Personally, I have a lot of experience in being diagnosed with different conditions, so nothing really seems to come as a shock to me anymore. However, I will never forget the day that I was diagnosed with a brain tumor.

When I was 13 I had my first MRI after I had surgery to remove a plexiform neurofibroma from my back. My pediatrician decided that it would be a good idea for me to have an MRI of my brain to get a "baseline", since I had never had one before. Being only 13 years old, I was absolutely terrified of the idea of having an MRI, and even more frightened of what the scan could show. I knew that having a brain tumor was a possibility considering I had Neurofibromatosis, but that only added to the fear and ambiguity that I was feeling.

The scan itself wasn't too bad at all, I'm sure all of you living with NF have endured multiple scans before, or have watched loved ones go through them. While I was in the scanner all I could think about was having a brain tumor, and how my life could potentially be turned upside down if one showed up on my scan. At the time I didn't really understand that tumors could be benign, and that there was a more than likely chance that if a tumor did show up on the scan, that it wouldn't even be cancer.

The two week wait for my results were pure torture for me, and I can't even imagine what my parents were going through. I had scoured the internet reading about brain tumors (which I don't recommend doing) which only freaked myself out even more.

I remember going into my doctors office and sitting down on the examination table, hoping and praying that my scans came back clean. I remember my pediatrician opening the door to her office and looking at me with a blank look on her face. I could feel my pulse start to race as she sat down in front of me and pulled my scans up on the computer. She looked at me and said, "Courtney, you have a brain tumor." I. Was. Shocked.

I felt like the wind had literally been knocked out of my chest, or like 1,000.000 elephants decided to sit on me all at once, I couldn't breathe. It took me a moment to register what she was saying and it took everything in my power not to cry. I had to stay strong. The doctor fiddled around with my scan for a moment until she landed on an image with a white dot in the middle of a grey blob of tissue (which I assumed was my brain). She pointed at the screen and said, "...that's your tumor Courtney. Due to it's location it is highly unlikely that it would ever be able to be removed. I am going to send you to a pediatric neurosurgeon in Edmonton just to be safe, but we are going to hope that it doesn't grow."

It seems dramatic now, but when I was 13 being diagnosed with a brain tumor felt like a death sentence, I didn't want to "wait and see" what the scans would show months down the road. I wanted reassurance that my tumor wouldn't grow, or that it would never become cancerous. I wanted reassurance that I would be able to live a normal life that wasn't filled with neurosurgeon visits or MRI's and CT scans. Being diagnosed with a brain tumor felt like my childhood was being taken away. I had to deal with what most other 13 year olds would never have to deal with, let alone ever even think about.... how was that fair?

The fear and ambiguity of having a brain tumor has never really gone away. I always get extremely nervous anytime I go for an MRI, and anytime I go to the doctors for results. I am happy to announce however, that since the diagnosis of my brain tumor in 2007 it has shrunk to nearly HALF it's original size!!!!!!!!!!!!!!!!! WOOO HOOO! Doctor's are stumped to why this might be but hey, I'll take it!

 ** This photo is from this summer, when I again had no tumor growth! Horray! **

I hope everyone has a wonderful week!

Court


Tuesday, March 3, 2015

Most Common NF Complications

Well hello everyone! I hope you all had a wonderfully relaxing holiday with friends and family and are now ready to embark on the new year! I had some time over the holiday's to write some awesome blog posts for you guys, so please let me know what you think of them!

In past blog posts I have covered uncommon complications of Neurofibromatosis, but I have yet to cover the most common complications.... so here we go! Here is a list of the most common complications seen in people with Neurofibromatosis.

1. Scoliosis  

Scoliosis is a sideways curve of the spine  that is seen in 16-36% of people living with Neurofibromatosis. Instead of the spine being in a straight line, people with scoliosis have a spine that is shaped like a "C" or an "S".  Scoliosis is idiopathic, meaning that researchers and medical professionals do not know what causes it. Typically scoliosis in children with NF is mild, but there are cases that are severe and require corrective surgery. Treatment for mild scoliosis includes the use of a brace to prevent progression of the curve in the spine.

** I was diagnosed with scoliosis when I was 13, and luckily have never required treatment for the 20 degree curve in my spine **





2. Lisch Nodules

Lisch nodules are benign tumors that grow on the iris of the eye and are seen in approximately 92% of individuals living with Neurofibromatosis. Usually lisch nodules are clear to yellow/brown in colour and can be seen without any kind of magnification. Lisch nodules do not affect vision in any way, and therefore do not require any kind of treatment.


3. Cafe-au-lait Spots

Having more than 6 cafe-au-lait spots larger than 5 mm is one of the diagnostic criteria of Neurofibromatosis Type-1. Cafe-au-lait spots are hyperpigmented areas of skin, which means that the colour of these lesions is much darker than that of the surrounding skin. These skin lesions often develop in early infancy, but typically become visible after the age of 2 years old. It is estimated that 95% of people with NF have this complication, which makes it the most common symptom seen in Neurofibromatosis.

4. Pseudoarthrosis 

Neurofibromatosis frequently causes bones to grow abnormally, and the most common bone that is affected is the tibia (shin bone). The first sign of the disease is bowing of the tibia, which usually occurs before the age of 2. The bowing of the tibia makes it more prone to a break or to a fracture. Typically these fractures or breaks do not heal well and can lead to something called pseudoarthrosis (which is a persistent fracture). This complication of NF is very hard to treat and typically requires surgery.




5. High Blood Pressure 

High blood pressure is seen in approximately 15% of people living with NF, and is most often due to stenosis or "narrowing of an artery or vessel"

6. Large Head Circumference

Occasionally this can be caused by a condition called hydrocephalus (which means there is fluid on the brain), but typically the cause for a large head circumference is unknown.


Thanks for reading, there will be more specific information coming soon on some of the more common complications from NF!

Courtney





Resources:
http://orthoinfo.aaos.org/topic.cfm?topic=A00050
http://www.nejm.org/doi/full/10.1056/NEJM199105023241807
http://emedicine.medscape.com/article/911900-overview
http://www.ctf.org/Learn-About-NF/Diagnosis-of-NF1.html