Saturday, February 27, 2010

Long Road to Finding Cure to Neuromuscular Problems

I am currently disabled by some neuromuscular disorder.  I have found out that the first thing doctors should tell a person who has these type of problems is that it takes years to diagnose most patients.

The first doctor I went to just tried to say it was temporary.  She checked for Arthritis That was about it. I knew what I had was something a little more than that.

I got referred to a neurologist about six months later.  At that time, they knew something was wrong.  They checked me for Limb Girdle, MS. They gave me many tests at that time including a EMG. This sounds innocent enough, but let me tell you something, feels like being hooked up to an electric fence. As a kid, we used to grab electric fences and then touch a friend. If you knew how to do it, it barely shocked you, but would shock the fool out of your friends. I know what an electric fence feels like, and it is just like an EMG.

They checked me for the common stuff like MS, ALS, and many things I had never heard of. One of these stiff man syndrome is what I just knew I had. It described my symptoms to the "Tee." My warped sense of humor loved the name. I knew every guy would have to tell a joke about the name. They checked me for GAD65. Completely negative.

Last thing they checked for was a serious birth defect Smith Lemli Opitz Syndrome. My cholesterol is always low and babies who have SLOS have very low cholesterol and too much 7-dehydrocholesterol reductase. They thought this may be what was going on with me, but the test came back normal on this also.

They are calling what I have Spastic Paraplegia. Bilateral adrenal nodules with a light case of Cushing's. I also have common old boring Diabetes Type 2.

I became quite disabled last fall, but am recovering lately. I don't know if what I have has run it course, or if it is in remission? Soon I hope to be able to do more in life. Being disabled sure had its disadvantages.

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