My First Day!

Well, today was my first day of appointments at the Mayo Clinic. First, I saw Dr. Babovic (who was the genetics specialist) to discuss issues related to my NF. After my appointment, she said I was a rather "complex" case and was interested in how all of my test results turned out. Both my Mom and I decided to go ahead with some genetic testing. What this will do is tell us if my NF was due to a simple "mutation" of my chromosome 17, or if it was due to a deletion of a set of genes within the DNA of chromosome 17 (see image below).

As you can see from this image, a piece of the chromosome is missing. Although this is rare (it only appears in about 2-4% of patients with NF), Dr. Babovic said considering the complexity of my case, it wouldn't be a huge surprise to her if my results showed a deletion of genes. This can later in life lead to problems such as heart disease. After we set up this test, she scheduled me for some blood work (which I ended up doing today). My growth hormone levels were checked to see if being on growth hormones had any effect on me, and my cortisol levels were also checked (cortisol is an important hormone during times of stress as it regulates many things like blood sugar levels and heart rate). When I had hormone testing last June, the results showed that my cortisol levels were "borderline low", so nothing was done about it. Dr. Babovic wanted to make sure that the levels didn't change. In addition to those hormones, my thyroxin levels were checked, as I am showing signs of not enough thyroid hormone being produced. In addition to the blood work, an MRI scan of my brain was scheduled for tomorrow, as was an appointment with a endocrinologist AKA a hormone doctor (whom I will be seeing later next week or sometime this week if they can squeeze me in).
After being thoroughly examined by Dr. Babovic, I went to go see the neurologist Dr. O'Neill. To be honest, I didn't really like him all that much. Although he answered a few of my questions, I kind of feel like a lot of loose ends were left untied. He suggested that the brain tumor that I have is in fact not an optic glioma like I was originally diagnosed with, but with a tumor called an astrocytoma. This is a very slow growing tumor that rarely becomes a problem. He also pointed out that on my MRI, my neck has an abnormal shape. Usually, people have a slight "C" curve in their neck, but mine is bent the other way. He believes that the abnormal curve could be putting pressure on the base of my brain, which is causing the headaches. Dr. O'Neill was a fantastic doctor, don't get me wrong but I felt like he wasn't totally committed to my case. At one point in time, he was called out of the room to attend to some sort of "emergency", and after that he seemed a little preoccupied. Depending on the results of the MRI, my Mom and I will decide if I want to go back to see him just to tie up some loose ends.
So tomorrow I will be seeing the urologist, orthopedic surgeon and will have an X-Ray done of my neck and an MRI of my brain. The results from all the testing should be done by about Thursday, so I will have more information to share then.
In the mean time, I am going to go relax and read a book. I hope everyone is enjoying my blog!