Flattered or Frustrated?

What a day yesterday was. It started about 4am when I was awakened by the massive thunder and lightning going on outside. I was able to eventually go back to sleep, but I still got up early and exercised. I picked Mom up at 8am to begin our road trip to Nashville. I had to laugh – we were dressed alike!! I guess that phrase “like mother, like daughter” applies in this situation. I mean, how does that happen? We don’t even live in the same house! We were both dressed in coral colored sundresses.

We had a non-eventful drive and nice conversations. I could tell I was nervous though because I kept biting my nails (on the drive home, I switched to twirling my hair). Oh well. We arrived at the doctor’s office a half hour before my appointment time, but I was signed in and taken back almost immediately. Efficiency – I love it!! The medical assistant weighed me and took vitals. My blood pressure was a little high (see, I knew I was a little nervous!). She then got all of my information entered into the computer and then the doctor came in.

This is where I don’t know whether to be flattered (in a weird kind of way) or frustrated. The doctor came in and said that he had read through and studied my file. His diagnosis: I am unique and complicated. I’m not your run-of-the-mill dystonia case. He said he’s not even convinced I have dystonia. He asked Mom and me if I had ever been diagnosed or tested for Wilson’s disease. I know I have not ever been diagnosed with it, but I couldn’t tell him for sure if I have ever been tested for it. I know at the Mayo Clinic they took blood and ran different tests, but I’m not sure if they ruled Wilson’s disease out or not. He asked if I could get those results for him. I said I would. In the end, I ended up signing a release that Vanderbilt was going to fax in to Mayo, requesting that Mayo send Vanderbilt my results. The only place I’ve ever heard of Wilson’s is in an episode of House. Last night, after I got home, I tried to find the episode, but didn’t succeed. I was also extremely tired, so I gave up looking for it. I did find it today. It's in season 1 and the episode is titled "The Socratic Method". Anyway, the doctor explained what Wilson’s is. It is a genetic disease in which both parents have to be the carrier of a certain weak/faulty gene. It’s a build-up of copper in one’s system. The doctor was adamant that he rule Wilson’s out first before going any further with my case. He said if I do have it, I need to start treatment for it right away. Treatment is to take zinc. He said that Wilson’s is called the great masker. There are so many symptoms of the disease that it’s usually masked and people with it are diagnosed with other diseases first. Come to find out (when I Googled it that night at home), it's fatal, if not treated. To which one of my brothers (who shall remain nameless!) said, “Life is fatal”. Thank you so much for that reminder – haha!

The doctor went on to do a physical exam in which he made me walk for him (which I hate!) and he did all the other neurological tests. One of those tests was to pinch my fingers and toes. He did this several times so I asked what he was looking for. He said that when he did that, my thumb was supposed to turn inward and mine didn’t. Again, I’m unique and complicated. Mom, at one point, told him I didn’t walk until I was 18 months old and I never crawled – I just got up and walked. He said that his son didn’t walk until 18 months either. That made me feel a little better. He said that I seem to have symptoms of both dystonia and spasticity. If I do have dystonia, he thinks it’s secondary and he said that unfortunately, deep brain stimulation doesn’t work as well on secondary dystonia or spasticity. He said the treatment for dystonia is BOTOX. There are three different kinds – two of which I‘ve already tried. I’ve got an immunity to Botox A and Botox B didn’t work (or maybe it’s the other way around, but either way, I’ve exhausted two of the three options). He also talked about a Baclofen pump. Baclofen is a drug used to treat dystonia and the pump would deliver it straight to my spinal cord. So, that’s an option. He said that if he rules Wilson’s out and I still want to pursue the surgical option (deep brain stimulation), he would send me on to stage 2 where I would meet with a physical therapist and they would video tape me walking and I would take a motor-function test. I would also have to have a psych test. If those tests came back OK, then he would bring my case before all the other neurologists in the hospital and they would discuss it and determine whether I was a good candidate for DBS or not. He mentioned that my case would take longer to discuss because I’m so unique and complicated. Again, should I feel flattered by that? Mom said later that at least I’m unforgettable.

Mom asked me on the way back from Vanderbilt what I was going to blog about. I told her then that I wasn’t sure because I still had to process everything. I was NOT expecting to get yet another diagnosis. That threw me for a loop. But one good sign was that I didn’t cry all the way back to Knoxville, which I’ve done at every other consultation. That’s a sign of growth, right?! As we were driving back, we went through Wilson County. Is that a sign?

When we got home, I stayed at Mom and Dad’s for supper. As Mom prepared it, I Googled Wilson’s disease. Whether or not that was a good thing, is debatable. However, the more I read the more convinced I was that maybe I do have it. Mom asked what my gut reaction was and I told her at that time that I felt like I didn’t have it. I just couldn’t believe that Mayo wouldn’t have tested for it and ruled it out. But, the more I read (from Mayo’s web-site as well as the NIH’s website and a Wilson’s disease website), the more I started piecing bits of my life together. Things I (up to this point) never thought of as related started to jump out at me. In the process of Googling all of this, Dad came home and he also started Googling it. Then all of the sudden he said that his grandfather died of cirrhosis of the liver, but he never drank. After a few minutes, Mom remembered that her grandfather also died of cirrhosis of the liver and he too never drank. Could it possibly be that both of my parents are a carrier of this weaker gene? Wilson’s effects the liver. I’ve been told within the past couple of years by doctors that they think I have a faulty enzyme within my liver which causes medication not to be absorbed in a normal way. Basically I have a rapid metabolizer gene and I have to end up taking a higher dose of medication (whatever that might be) to get the same results of a person taking a normal dose. Wilson’s also manifests itself in both neurological and physiological symptoms. Well, I have panic attacks and anxiety and nervousness. I had them since I was about 10. And the neuro symptoms started when I was in my mid 20’s. As my Mom said, there’s nothing that we’re reading about that excludes me from having it. So, maybe I do, maybe I don’t. I don’t want to get excited thinking I have this though, because in the back of my mind, I again go back to when Mayo did blood work and I highly doubt that they would have not ruled it out.

So that’s where I stand now – waiting (my least favorite thing to do!). I have to wait for Mayo to send the lab work to Vanderbilt and then for the doctor to study it. If Mayo didn’t do the tests for Wilson’s (which, again, I highly suspect they did), then the Vanderbilt neurologist will order that I get it done. He said that also a 24-hour urine collection test would be a good indicator, so he may order that as well. If it’s Wilson’s I’d be treated for that, which would mean probably no deep brain stimulation. If it’s not Wilson’s he’ll send me on to stage two in the deep brain stimulation process.

It's a lot to comprehend. Again, I don't want to start thinking in one direction (Wilson's) only to get a call in a few days to say that Wilson's was ruled out. I don't know what the future holds, but I do know Who holds my future. So again, I'll have my favorite Bible verse on repeat in my brain: "Do not be anxious about anything, but in every situation, by prayer and petition, with thanksgiving, present your requests to God." Philippians 4:6