About a year ago, I fell down the stairs- twice in less than a week. This was unusual, because I almost never fall down. I started to notice that I was losing strength/energy to do normal things around the house- mowing the lawn, shoveling snow, even cooking was difficult. Things got worse, and I found myself unable to bathe or dress myself, chew or swallow, or pick up and hold my kids.
What is happening?
I have Congenital Myasthenic Syndrome (CMS) which is a relatively new term for what i've always been told I have- Congenital Myasthenia Gravis. I was diagnosed with this when I was a toddler by Dr. Robert S. Zeller- a Houston, TX child neurologist. I had always had a very weak cry when I was an infant, and didn't make some of the developmental milestones at an early age. My parents became most concerned when I nearly choked to death several times graduating from baby food. Nobody could figure out what was wrong with me, and I had many, many tests. Finally, Dr. Zeller was asked to meet me, and when he took one look at me he said- "Myasthenia Gravis". I was given a Tensilon test, which immediately gave me my energy and strength back. I've been taking Mestinon ever since- as much as 180mg 3 times per day.
Life was pretty much normal for me after that- although I grew up a little bit skinny and weak- I could still mountain bike, snowboard, jog, weight train and tons of other activities.
Why isn't this Mestinon stuff working anymore?
Over the past couple years, I had been developing stomach probems- cramps, bloating, difficulty going to the bathroom with increasing severity....and after several different gastro doctors- finally discovered that I was lactose intolerant. I had hoped that fixing my stomach issues would help improve my CMS, but unfortunatly that didn't happen. I suppose i'm happy that the Mestinon wasn't causing the stomach problems (which I had feared).
I was sent to an Endocrinologist for thyroid tests, my neurologist (Dr. Ringel) ordered an EMG, and my bloodwork was shipped off for genetic testing to determine exactly what flavor of CMS I have. After a few weeks, my results were back- no thyroid problems, and the genetic work shows a defective Epsilon sub-unit in my acetylcholine receptor- but BOTH sides of the chromesome are defective. My dad was adopted, and both of my parents are from the Dallas, Texas area- so it's entirely possible that my parents are somehow related.
Dr. Ringel offered a prescription of Ephedrine Sulfate 25mg capsules 3 times per day- to be taken in conjunction with Mestinon 60mg tablets 3 times per day. He also presribed Sertraline to help combat stress and depression.
I had my doubts about the new drug combination working, but it does work! I am again able to do many of the daily activities I once enjoyed. Let's hope it lasts!