Patient Stories: Kurt

"A couple of your liver enzymes are a little high" - these are the words that started my life with LGMD2B/Miyoshi MD. I was 27, in my last weeks of college, about to graduate with a degree in chemistry and engaged to be married in the fall. I was told to watch my lifestyle and have my blood drawn again in a few months. Thus began a decade of regular blood testing, not only to monitor my enzyme levels but also to test for every liver disease known to man. I was sent to a variety of specialists and underwent 3 liver biopsies, all showing basically nothing except elevated enzymes and what was called ‘fatty liver’. Eventually I was told to have my blood tested regularly, watch my alcohol intake and try to be kind to my liver. It was suspected that being a chemist, I had been exposed to something at college that had done some damage to my liver.

By the time I was 37, my life had changed drastically. I had been a chemist for 5 years, got laid off, went back to college, got another degree and started teaching high school chemistry. One day I had put some cream on my heels and was trying to walk on my toes until I could get socks on. I could not stand on my toes on my left foot. I wasn’t particularly shocked or concerned but I went to an orthopedic surgeon to get checked out. I got a MRI and it showed some significant injury to my lower back. In my early 20’s I had fallen 2 stories while working construction. The fall broke my feet badly. The doctors got 'tunnel vision' and only concentrated on the foot injuries and the back injuries went unnoticed... by them or me. I had always been very physically active and an avid weight lifter. I suppose I didn’t know I’d hurt my back, as it was so strong at the time. The reason I couldn’t toe walk was diagnosed as ruptured discs pushing on my sciatic nerve causing some weakness in my lower legs.

And so began the next stage of misdiagnosis. I again went to several doctors, had injections, physical therapy, chiropractic adjustments, I even tried a magnet on my back. All the while I kept having more problems. I could not walk in shoes with heels as my ankles would roll, I was loosing my balance all the time, stumbling, staggering and falling, if I could not see exactly how and where my foot was going to land, it was likely I would fall. In about 1999 I tried to play some volleyball at a faculty party. I could not run at all, I could hardly make my legs move. I went to my back doctor and told him that we needed to do whatever it took to fix this. Another battery of tests followed. In the end we are standing in his office going over all the test results and he tells me "I don’t know what is wrong but I’m sure it is not your back". I suggested "some kind of disease", he said "probably". It felt like someone stuck an icicle in my chest.

I went to a neurologist for an EMG. He was a young guy who did not know what he was seeing. He did tell me he was sure it was not MS... some good news. I went to another neurologist and was told that in 35 years of practicing I was the 2nd case of distal myopathy he had seen. I was sent to the MD man in my area, Dr. Mark Bromberg at the University of Utah. He confirmed the diagnosis with another EMG. He wanted a more exact diagnosis and we did a biopsy of my calf muscle. The muscle was too degraded to be of diagnostic value. Since there was no treatment, no changing the progress of the disease and no way to predict how it would progress, we went into a holding pattern. About 18 months later at a follow up, I could not stand up from a chair without aid. This meant my disease was no longer just distal but had progressed to my proximal muscles. Another biopsy was performed on muscle from my shoulder and staining confirmed LGMD2B/Miyoshi. So, at last the demon had a name.

In 2006 I was forced to retire from teaching, shortly thereafter I was seriously hurt in a ATV accident and confined to bed for months. Fortunately I came out of that OK physically... mentally on the other hand I was a wreck. My anger and depression led me to see a psychiatrist. This turned out to be the best move of my life as far as doctors were concerned. Not only did he help me with my mental state but started me on a low dose of time release pain medication that virtually removed the crushing fatigue I was experiencing. I was spending 18-20 hours a day in bed and struggling to do anything. That medication has helped me continue to live a fairly normal life for the last 4 years. Had I got that treatment sooner, I know I could have continued to teach for at least two more years.

The story ends with the Jain Foundation. I was reading the MDA newsletter and saw that the Foundation was looking for LGMD2B patients. They were interested in doing a DNA analysis to confirm the mutations. I qualified for this testing and last year I sent blood to France. The final confirmation was made when mutations consistent with dysferlinopathy were found in my DNA. It was a long journey to get to this point. I spent so much time, money, discomfort and worry on liver disease and back injury that it is difficult to not be a bit angry about how the process went. Knowing what I know now, all it would have taken is for one of those many doctors to ask the question: "What else causes high liver enzymes"? Since your CK levels are the first indicator of MD, it seems like a diagnosis could have been made much sooner. It turns out that my MD was active as far back as my early 20’s but I did not get symptoms until I was about 35. In the final analysis, I consider myself lucky to have had so many years of good physical health.

 

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