01 - 04.08.2010, 03:16

First I want to apologize for how long this is going to be, but my mysterious disorder has been going on for some time. Starting when I was about 16 (in about 1995) I started having episodes of weakness in my fingers(I might not be able to move them a few hours) or in my arm (I would physically have to use my good arm to move my “bad” one around) or my leg, which would cause me to be off balance, have trouble dressing,walking,etc..If it was my leg it usually lasted at least 24 hours.…It only happened several times a year and my pediatrician at the time said maybe I was sleeping in an awkward position., which I doubted because I later found out that my mom had some of the same type symptoms starting in ther 20’s .Fast forward several years….2001, I was 21 and pregnant with my first child, I had several episodes and I remember once after going somewhere, when I returned home, both legs were affected and I had to literally crawl up the steps into my house. When my son was about 8 months old, I had the worst episode I had ever had up until then, I was at work(at a hotel where my mom was the manager and had an apartment there) and my legs had become progressively weak throughout the day. I went into my mom’s apartment to visit my son, I bent over and picked him up from the playpen. If her bed had not been right there when I stood back up, we would have hit the floor. I completely lost all feeling in my legs from about the knee down. My feet were unaffected. I went to the local Emergency Room and they ran many lab tests, the only thing abnormal was a slightly lowered potassium level, which they said would not contribute to weakness that severe. They sent me home.(Episodes generally last anywhere from 6 hours to 24 hours and then the next day is a lot of weakness and the day following is extremely painful muscles, which I feel is from trying to use them when they were in “distress” for lack of better terms) I found a new physician who ran tons of lab tests on me,(thyroid, autoimmune, cbc,etc..) but at that point I was back to normal and everything came back normal. I live in a somewhat small town and we did not have a neurologist and I did not have health insurance at the time so I decided to wait it out. Episodes continued sporadically over the next few years and I started documenting any information that I felt relevant ..I found that my episodes rarely happened in the summer, it was mostly during the season change and feel that drastic temperature changes and /or humidity change is a factor in my disorder. I also found that lack of sleep and sickness often preceded an episode. In 2006, I found a new physician and finally got a neuro consult with a local neurologist, but, by the time my appointment came around, my episode was over and muscles were back to normal. She did a physical exam, which showed normal reflexes and EMG and nerve conduction study on my lower leg, which showed no abnormality(which I expected because I had absolutely no symptoms that day) , she also ordered an MRI of my spine, which I only made it through the first part of because I am very claustrophobic and had them stop the test, I asked the neurologist later at my appointment if she would prescribe something to take and I could probably finish the MRI and she said the results from the part that I did finish did not show anything wrong and that I did not need to go back for the rest of the testing. Based on my lab work from previous episodes showing my potassium level to be low a few times and never above the baseline of normal, the neurologist said I could have a form of periodic paralysis, either hypo or normo kalemic. And that a muscle biopsy would be the only way to confirm that diagnosis. I left there in 2006 thinking that is what I had and planned on one day having the biopsy done. Fast forward again a few years, again with episodes occurring sporadically over the years, probably 5-6 severe episodes per year , which would cause severe disability for days causing me to miss work, need help walking, using the restroom, even turning over in the bed. And many minor episodes such as not being able to move my hand for several hours or my fingers of one hand for a day or so or even not being able to wiggle my toes. My muscles seem to completely recover from these in a few weeks. Over this past year I have had increased episodes, occurring more frequently and lasting longer and affecting my upper extremities and lower extremities at the same time, which is new. I also had more episodes affecting my feet causing “foot drop” and I was just dragging my foot around and having to step up high so that I would not trip over it. I also had during one of the episodes of foot drop, the hand on the same side was extremely weak and then after a few hours my middle two fingers curled into my palm and I couldn’t straighten them out, which is also a new symptom, which lasted about 24 hours, with pain the next day. I have also been having horrible pain in my hands and feet, which is also a new symptom. I made an appointment with the neuromuscular specialist at the MDA clinic that is a few hours from my home, he examined me(again, normal results because it took me from February, when I had a severe episode, I could not get in until May) normal exam, he scheduled a muscle biopsy, with samples being sent to St. Louis for analysis., which I underwent in June, I went back to this neurologist six weeks later, he informed me that the muscle samples had been “compromised”, but went ahead and tested them and the Physician in charge of the lab concurred that the results could be trusted, which came back as basically normal muscle tissue, no evidence of periodic paralysis or any other neuromuscular disorder. He then went on to tell me that it was probably psychological in nature because he couldn’t find anything wrong with me, which he based on a 4 year old EMG, not done during any weakness, an MRI that was not completed and a muscle biopsy that states in the pathology report was compromised. I then asked about my mother’s symptoms and said it must be some type of hereditary subconscious disorder!! I was so angry and most of all hurt that this physician that I had placed so much hope in treated me this way because he couldn’t find the cause of my problem, he had not even seen me during an episode, but, because he did not know the answer, he concluded I must have psychological problems, well, actually I do have some anxiety issues, but all that stems back to having a disorder that cannot be diagnosed. This has caused me much frustration over the years. I know there is something going on with my muscles or nerves and it is obviously hereditary, I want to find answers to that future generations can know about it and not have to go through what I have. Between my insurance and myself about $50,000 has been spent trying to diagnose this, the botched muscle biopsy(which was no fun) was close to $20,000. I do not enjoy having these episodes, I do not like the attention, who wants to be dependent on others to help them shower, dress and use the restroom??? I do not secretly enjoy spending thousands of dollars on tests, I do not enjoy driving several hours to specialists to be told that I am crazy. I need someone to help me diagnose my problems, not only for myself, but for my children and my nieces and nephews. I need to know how to get neurological testing during an episode and not three months later..If anyone out there can help me figure out how to get diagnosed and get some answers, I would appreciate it more than you would ever know..