Diagnosis Day

December 8^th 2014 Diagnosis Day

I am not really even sure how to express my feelings of this day, I knew it was coming but I still had a lot of doubt in regards to my diagnosis. I believe that was because I have seen so many doctors in my life and they could never really explain what was going on with my body and what was causing my symptoms.  So how do I even begin! Well I suppose I should just start somewhere.

The night before I told myself I was not going to be nervous, then of course the nervousness of the upcoming appointment set in. Everyone that knows me knows that no matter what doctor it is I get nervous, but this was a big appointment! He may be able to tell me what is going on with my crazy body. What is he going to say? Is he going to tell me it is just stress related and the medication working so well is a placebo affect? I have so many questions for him! Do you think it is early onset Parkinson’s? Is it Dopa Responsive Dystonia for sure? What kind of damage has happened to my body over all these years of stiff muscle contractions? These are just a few of the questions that ran through my head. I could go on and on, but lets just say it was a bit hard to fall asleep.

I have been trying to figure this out for many years. But it was over the past few years that I knew for sure something was really wrong, because the symptoms got worse and now it affected my legs dramatically, worse than before. I can tell you just a few of my diagnoses. One was panic attack; they said that was what was causing me to become paralyzed at times, randomly even though I was not in any sort of stressful situation. I once woke up and could not move my left leg. My son called and ambulance for me. I was twitching all over my body and could not stop it. I get to the emergency room and for almost 6 hours I shook all over, twitched ect. They did not run a single test and told me it was a panic attack. WHAT? When the shaking finally stopped I could hardly walk and I was in severe pain all over my body. This was March 2013, My husband was on the road and the boys were with a neighbor. I remember them discharging me as I slowly walked, almost as if drunk to the front of Duke hospital emergency department. It was 6 am, cold and raining, and I was alone. I called a cab so I could get home and I cried while I waited. Here I was wondering what was going on with my body and they did nothing! 2 weeks earlier I was at that same emergency room because I had several paralyzing episodes in my upper body and I feared I was having a stroke. That is when they referred me to a neurologist that specialized in MS. The nurse practitioner at that time told me that it  sounded like MS. Ill save my first appointment story with that neurologist for another blog.

I had in the past had those shaking twitching all over my body spells before, once it lasted for 4 days. They said it was a possible kidney infection and low potassium and sent me on my way. Wow what a strange feeling when all your muscles do that. Amongst all the other strange symptoms I have had over the years.  That too will be for a different blog.

Ok long story short! I am starting to get off topic ha ha. So I arrive to my new neurologist’s office on what I am calling Diagnosis Day. I am taken back to his room. The nurse greets me with a smile ( she is always very kind). She says “So the medication is working!”, Yes. “Has anything changed in your file?”, No. “ I see that you are a microbiologist, I am sure you are happy to get back to work! “ my response… “I wish, but I lost my job.” Of course she was very nice and let me know my health comes first.

So the doctor comes in with a huge smile on his face, shakes my hand, as I explain I was nervous. Takes a seat, still smiling. And says “The medication works!!” I am not sure I have ever seen a doctor that happy to see me.  So he lets me know that the timeline of symptoms I prepared for him was great. On the first appointment he wanted me to make a timeline of all my symptoms and diagnosis’s I had in the past.

Then here comes the big moment, he asked me to walk. By the way he is still smiling big ha ha. So I begin my walk down his office hallway and I can hear him saying “WOW, look at how much more fluent you are! Keep going, Ok turn around!” Then he had me do it again, I then said look my but shakes now Ha Ha. I remember seeing the smile on his face was even bigger when I was walking toward him.

We go back into his office and I sit on the table. This is when he told me what it was. I did not have to ask any of the questions that I had thought about the night before.

His exact words were, ”Well my dear, you have been through a lot.” “And I am sure you are in a lot of pain.” He paused and looked at me with a hesitant half smile. “You have what I like to call Dopa Responsive Dystonia.” “And from your history, you may have had it since a child.” “You do not have parkinsons.” At that same time he was writing on a slip of paper. Got up and handed it to me, with my diagnosis written on it and his signature. He shook my hand and gave me a hug. He then sat back down and told me that now I can get back to my life, and have a life since we now know how to treat me.  He let me know my back problems and neck problems, even my 2 herniated disks that occurred in the past was due to my dystonia. And that now we needed to find the right dose for my symptoms. He went on to tell me I would need lots of physical therapy and that I have probably been walking incorrectly for so long that I have to go to PT to learn how to walk again. Now that part stumped me, and did shock me a little. He went on to say that from the constant contractions from my untreated dystonia that it what has caused all my pain and that there would be some damage, but PT and medications will help that! He said all of this with a smile and with the sound of lots of hope. I am finally going to get the help I need! Finally!

Now I know that I will probably always be in pain, due to all the joint damage throughout my body. But if we can keep it all under control and I go to PT I will get a little better. And that makes me feel good. I do hope I can get the pain under control better.

So long story short, I am not crazy! I am not a hypochondriac. I have been in pain.  I really had something.  I was not having panic attacks. Yes I am a little upset that no one ever listened. That I have lost so many friends because I was in too much pain or too exausted to do anything. But now I know what it is, and in time I can lead a more normal life with less pain! And not look like I am freaking out because I am shaking, and not being accused of being high strung because I am stiff. I will admit so many people would think I was upset because I would at times have a blank facial expression due to the low dopamine levels, and that with a stiff stressed out looking body, well I guess I cant be too upset cause I am sure I looked like a weird robot to them.

Ok so this is it for now. I will write in more details at some point about all the strange occurrences and symptoms. So my blog is going to go back and forth I suppose.

I have so much hope now. This is a genetic problem so I only hope I have not passed it on to my boys. But at least now if they have issues they can have it treated much sooner than I did.

Peace, love and blessings to everyone!

Here is the slip of paper...