Saturday, July 25, 2015

In Progress...The Next Step

I haven't updated this blog since my Vanderbilt consult on June 30 because there really hasn't been anything to update about. I had the consult right before the July 4 holiday, so I knew it would be a little while before I heard back. But two weeks after the appointment, I got antsy and called Vanderbilt. They had not received any information from the Mayo Clinic yet. They suggested that maybe I should call Mayo and see what the hold-up was. So I called and Mayo said that they had in fact received the request that Vanderbilt had sent, but there were so many patients asking for records to be sent that they were about 2 weeks behind in sending records out. I called them on a Friday (I know, probably a HORRIBLE day to call!) and they said that my records should arrive at Vanderbilt by the middle of the next week. I called Vanderbilt back and informed them of this. While I was on the phone with them, it struck me that maybe, just maybe my internist might have those Mayo records. I told Vanderbilt that I was going to call them and see and if they did, I'd have them faxed over to them. Why I didn't think of this before, I have no idea! I called my internist and he did have them!! I requested that they be faxed to Vanderbilt and then asked if those results showed if Mayo had tested my copper levels. They had and mine were fine. I asked what they meant by fine and the nurse explained that copper levels should be within a 75-144 something or other range (I really don't remember, all I remember were the numbers) and mine were 122. At this, I became my own doctor and ruled out Wilson's. I was in a horrible mood the rest of the day! And as much as I thought I had prepared myself for any answer, I realized that I had my hopes on having Wilson's (as strange as that may seem). It struck me that on June 29, Wilson's wasn't even on my radar and by July, I really wanted to have it. It sounds extremely strange and wrong to say that I "want" a disease or hope that I have it, but after pondering that awhile, I came to the conclusion that it's more that I want everything wrapped up in a neat little box, then I actually want a disease. Symptoms could be blamed on one thing. I could take a pill and everything would be good. In reality, even if I do have Wilson's, I'm not sure that taking a pill or supplement will heal everything. It might be that I have walking problems the rest of my life. So, after being in a bad mood the rest of the day, surprisingly I woke up the next day, Saturday, in an excellent mood. I'm not being sarcastic either. I don't know what God did to me overnight, but my mood the next day was a complete 180 from the day before. It was a new day and God saw fit to wake me up. I wasn't going to waste it! I had a most excellent day.

The following weeks were spent waiting on a call from Vanderbilt. Yes, I could have called them and I almost did, but I kept coming back to the conclusion that if there was anything to call about they would call. Plus, I just knew that I had my answer: it wasn't Wilson's. I wasn't as anxious to receive a call as I had been! So I waited. As stated before I am probably one of the world's least patient people, but I really think God was using the time that I didn't hear from Vanderbilt to mold and shape me. I still don't know what He's molding and shaping me into, but I do know He's working on me. Then, this past Wednesday, I got home from work and checked the mail. There was something from Vanderbilt. I got excited for a second and then thought, "it's probably a bill". But I opened it and it wasn't a bill. It was a prescription. It wasn't a prescription for drugs though, it was a prescription for a test - a 24 hour urine collection test (oh joy!). So...this means that the doctor did receive my test results from the Mayo Clinic and he hasn't completely ruled Wilson's out. This is why he's the doctor and I am not. He had mentioned to Mom and I that even if my blood tests came back OK, that he might prescribe a urine test too. So, this is the next step. I called my internist's office and asked if they did those tests and they said yes, so on Thursday I went and picked up the supplies. Thankfully I can do this test over the weekend and can return it to them on Monday. I really hope that people who have to analyze this stuff get paid big bucks because I think it's kind of disgusting! I'm glad I picked up the supplies on Thursday because I ended up having a ton of questions and must have called the lab lady 20 times! I felt so bad, but she was so sweet and answered all of them.

That's where things stand now. I'm going to do the test tomorrow (I don't want pee sitting around my house for any longer than I have to have it there!!). Thankfully, I don't have to refrigerate it, as they want it room temp. I think if I had to do that I'd be sanitizing my fridge for the next month or so. After I do the test, I'm sure there will be lots more waiting. Whoever has been praying that I have patience, please stop. ;) I'm kidding, really. I don't like waiting (who does?), but God's ways are not my ways and He's teaching me something, even if I don't yet know what that something is.

Wednesday, July 1, 2015

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