Monday, December 8, 2014

Neurofibromatosis Type 2

Since my blog has primarily been focused on Neurofibromatosis Type-1, I wanted to provide some information about NF-2! Some of the medical information that I found was really complicated, so I tried to simplify it the best I could!

Neurofibromatosis is classified into 3 different types:

1. Neurofibromatosis Type 1 (which is what I have been diagnosed with and what this blog focuses on)
2. Neurofibromatosis Type 2 (which is what this blog post will focus on)
3. Schwannomatosis

Neurofibromatosis Type 2 is much more rare than NF-1, as it occurs 1 in 25,000 people instead of 1 in 3,000. The trademark symptom of NF-2 is tumor growth on the 8th cranial nerve (there are 12 cranial nerves), which is responsible for providing the brain with information relating to balance as well as a sense of sound or hearing. This means that individuals with NF-2 are at a much higher risk for deafness and severe balance problems than those with NF-1 or even those in the general population.

Like people with NF-1, individuals who have Neurofibromatosis Type 2 can develop tumors on other nerves in the body.  These tumors are called schwannomas because they typically develop from Schwann cells, which serve to insulate and protect nerve cells so that they can conduct information throughout the brain. Neurofibromatosis Type 2 can also cause vision problems, such as cataracts, orbital tumors and abnormalities of the retina. Facial weakness is another common symptom of NF-2, as are headaches and subcutaneous tumors. People with this type of NF can also have symptoms of NF-1 such as cafe-au-lait spots, but they typically have only a few of these.

Unlike NF-1 which tends to manifest in early childhood, symptoms of NF-2 are generally not noticed until the later teen years or early 20's. The diagnostic criteria is also quite different than that of NF-1, the criteria is as follows:

A diagnosis if NF-2 requires that the patient presents with at least 1 of the following:

  • Bilateral vestibular schwannomas (tumors of the 8th cranial nerve present on both sides of the brain) 
  • A first degree relative with NF-2 (parent, sibling or child) AND|
  • Unilateral vestibular schwannoma (tumor of the 8th cranial nerve found on only one side of the brain) OR
  • Any 2 of the following: meninginoma (a benign tumor that comes from tissues in the brain), schwannoma, glioma (a malignant or benign tumor of the glial tissue of the nervous system), neurofibroma, and subcapsular lenticular opacities (cataracts)  

  • Multiple meninginomas AND Unilateral vestibular schwannoma OR 
  • Any 2 of: schwannoma, glioma, neurofibroma, cataracts

I hope you all learned something new today, enjoy your week!



Monday, December 1, 2014

My Journey to the Mayo!

Well hello there! Thank you to everyone who has been reading this blog weekly, and thank you to those of you who are reading one of my posts for the very first time! I am very blessed to have so many people in my life who care about me, so here is a big shout out to my lovely friends and family!!! I would also like to extend a thank you to Manitoba NF for making me their "official blogger" and allowing me to share my journey in a meaningful way! So here is this weeks edition:

For those of you who live in Canada, I am sure you are as frustrated as I am about finding a physician who is well educated on NF. For those of you who live elsewhere, check out my previous post "NF Awareness in Canada"so you can have a feel of what it is like way up north with all the polar bears and igloo'

After 3 years of having NO success with finding the origin of my headaches, and exhausting the medical system in Canada, my family and I knew we needed to try something different. There is so little knowledge of NF in Canada, and I felt like something may have been getting missed because of it. I was very blessed to have been given the opportunity to travel to the Mayo Clinic in Rochester Minnesota in June of 2011. Not really knowing what to expect, my Mom and I packed our bags and boarded a flight to Minnesota. We were welcomed by a blast of horribly humid air, and we were told that apparently Rochester hadn't experienced a heat wave this bad in like 20 years. And here my Mom and I were with our toques and parka's, sweating like crazy.... Haha I'm totally kidding. But we did seriously get asked if we lived in an igloo....

We weren't really sure how long we were going to be down there, it depended on what happened with all of my doctor's appointments and what they "found". I saw a total of 7 specialists at the Mayo, ranging from pediatric endocrinology to a geneticist who specialized in NF... SCORE! It was actually pretty great having a doctor who knew so much about NF, as majority of the specialists I have up here didn't have any other patients with this disorder. Many of them actually had never even treated anyone with Neurofibromatosis before, which was always very frustrating for me.

My Mom and I were down in Minnesota for 9 days, and in that time I had a full body MRI, multiple blood tests, X-Rays, and other specialized tests to see if any of my NF symptoms were "treatable". Mostly, I just wanted an answer for the chronic headaches that I had been experiencing for 4 years. I saw 2 neurologists, who both couldn't give me an answer for why I had headaches. Actually, one "kind of" gave me an answer.... I had been asked to keep a headache journal, so that they could see if there were any cyclical patterns to my headaches, When I gave this journal to the first neurologist, he snorted and said "You're such a Type A personality, and that's probably why you have headaches. You're just a typical migrainer" as he tossed the headache journal back at me. I was pretty mortified. Who was he to tell me that my headaches were due to my alleged "Type A" personality? He had absolutely no idea what I had been through, because he didn't take the time to ask me. He just assumed. This bothered my Mom and I so much that we actually asked to see a different neurologist and get another opinion because of the way that I was treated. This second neurologist way was absolutely awesome, which goes to show that you really do have to advocate for your own care!

At the end of the trip, there were no new "answers" for why I had chronic headaches other than " is just part of having NF."It was a general consensus among the physicians that since I randomly woke up one day with the headaches, that randomly one day I will wake up with no headaches.  At first, that was really tough for me to take in, as I felt like I had completely wasted 9 days to learn nothing new. After a lot of thinking and reflecting however, I realized that being told what I was told brought me a lot of peace. It made me realize that I had really gone as far as I could to find answers to why I had chronic headaches. It made me realize that I really did access all the resources that were available to me, and did everything I could in my power to find an answer. I got to see some of the best specialists in the world, and if that can't bring a person peace, I don't know what will.

If you want to learn more about my trip to the Mayo, I did keep a blog while I was down there, and here is the link if you want to check it out!

Thanks for reading,