Excerpts

From Chapter 1: What’s Wrong With Him? recounting my childhood diagnosis of Charcot-Marie-Tooth.

     I was alone in a medical room sitting on an examination table surrounded by sleek space-age equipment.  Someone important came in.  He took small amounts of jelly and rubbed it in small circles all over both of my legs.  Then, at the center of each jelly circle, he inserted a small needle attached to a wire leading to a machine.  Sharp pain shot through me with each prick. 
     But this was only the beginning.  Electricity was then pulsed through these needles.  The pulses got stronger and stronger and stronger and stronger, seeking some reaction that I did not understand or care about.  In some areas, the jolts weren’t so bad, but in others, the surge just kept coming, an unstoppable tide of pain.  I never knew how strong the shocks would become or how long they would last. 
     During the worst part of this test, I felt my entire body jerking as it sought to absorb this foreign strength raping my nervous system.  After a while, all I did was lie there and hope for the end.  Electrical spasms were the only sign of life. 
     The EMG is a test designed to measure nerve conduction velocity.  The increasing strength of the electric shocks is needed to find the maximum velocity of nerve conduction.  What all this meant was this:  They finally knew what I had.  The test was conclusive. You could find it in a book.  There were doctors who specialized in it. 
     A few weeks later, I was in a different office waiting for yet another doctor.  This new doctor was a specialist and was going to tell us about my condition.  We waited a long time before he came in. 
     "Hello, I'm Dr. Horn . . . and you must be Martin."  He seemed genuinely happy to see me.  He was older and kinder than the other white-clad people.  But he still had lots of creepy looking things in his pocket. 
     "Hi."
     My dad asked, "What's the matter with my son?"
     "He has Charcot-Marie-Tooth or simply CMT.  The names don't mean anything – they were the first doctors to research the condition in the late 1800s.”
     He went on and told us more about CMT.  CMT is an inherited neurological condition that affects the lower legs, feet, and hands.  CMT is progressive, meaning that it gets worse over time.  It causes nerve cells in the extremities to degenerate.  When the nerve cells die, the muscles weaken and die due to loss of stimulation from the affected nerves.  CMT is the most common inherited neurological disorder and affects about 150,000 Americans. 
     He finished by saying, “CMT usually manifests itself in adults, which is part of the reason why it was tough to diagnose in your son.  There is no treatment for CMT.  Martin will have CMT his whole life.  But there are surgeries, splints, and activities that can help him along the way." 
     "Will he ever be able to run?" 
     "No, but if he keeps his general health up and his weight down, he should be able to keep walking."
     My dad seemed shaken by this answer.  He swallowed and gathered himself for another question.  "Will he be able to drive?" 
     "Yes, I think so."  My dad relaxed. 
     "What should we do now?"
     "There are a few surgical procedures that may help." 
     I didn’t like that answer.