Wednesday, January 27, 2010

It's A Family Affair

CMT Syndrome is a genetic condition with varying presentations, but with most patients inheriting the disease from one of their parents who also demonstrates evidence of the disease.  Because the disease is generally passed along through a dominant gene, there is a 50/50 chance of carrying the disease onto the next generation.

I am the first (and currently remain the only) person in my family to be diagnosed, but I have many symptoms that both my father and younger brother also exhibit.  One of the tell-tale signs of CMT is a cavus foot (abnormally high-arched foot).  When one of my many doctors was examining my feet last year and had initially suggested that I may have the condition, he asked if anyone in my family also had high arches.  I immediately replied that "yes, I have exactly the same feet that my dad does."

Another of my doctors, upon investigating the cause of the injury to my peroneal ligament asked me if anyone else in my family had had similar soft tissue injuries in their ankle.  I replied, "yes, my younger brother has already had two surgeries on the same ankle to repair two different tears. . . do you think he was pre-disposed to this type of injury?"

Since this journey of discovery in my own diagnosis, I have now encouraged both my father and brother to get tested for CMT Syndrome.  But, while waiting to visit a neurologist, my brother called me last week to tell me about some recently developed health issues he is otherwise experiencing.  His family doctor had encouraged him to take part in a sleep study to help identify some problems with his sleep patterns and to find the cause of his increased bouts of fatigue.  He said that after completing the study, his doctor had diagnosed him with a series of problems, including restless leg syndrome and sleep apnea.  I didn't think much about it at the time, but I finally called him back a few days later after a very nagging feeling . . . I told him that I didn't think he had restless leg syndrome, but that instead he has CMT and the doctor had mis-diagnosed him.  I told him once again that he needs to make visiting the neurologist a priority and he needs to be tested immediately.

Additional symptoms of CMT include weakened ankles, feelings of numbness and tingling, increased fatigue, repeated tripping/falling, shortened calf muscles, underdeveloped achilles tendon, and plantar fascitis.  All of these conditions are very closely associated with many other common diseases as well, making it easy for doctors to misdiagnose patients and the opportunity for treatment delayed.

While my father has the tell-tale high arches, he hasn't experienced many of the more common symptoms of CMT that I have. . . The research that I've been able to find since my diagnosis indicates that the disease becomes more prominent in each succeeding generation.  It's more important now than ever that my brother get tested in the hopes of preventing passing this incurable condition on to his children . . .

Tuesday, January 19, 2010

They Say Time Heals All Wounds

January 12th had to be one of the longest days of my lives . . . literally. Stacey and I arrived at the hospital at NOON, well ahead of my scheduled surgeries at 3pm. I was required to fast from any food or drink before midnight the evening before . . . I swallowed my last spoonful of ice cream at about 10:50pm. And, as soon as we found our way to the surgery check-in and family waiting room, the pleasant aroma of beef and spices was wafting its way toward us--the cafeteria was directly below us. It was pure torture for those of that had had a twisted, tumbling stomach all day. . .

After checking in, Stacey was able to stay with me until about 2:30pm when they took me to the surgery holding room where they got me a warm bed and introduced me to the anesthesiologist and nurses. I remained there until they managed to locate Dr. Genden about 45 minutes later (he had disappeared for a short stint, apparently . . .). After giving me some initial gas to relax me, they wheeled me into the operating room where I professed my unbearable hunger and apparently ordered a cheeseburger and fries from the lead resident before finally releasing myself to the full power of the anesthesia.

I didn't wake again until almost 9pm when I could hear Stacey and the nurses yelling at me in the recovery room. . . they only let Stacey stay with me for about 5 minutes before shooing her to go home. Stacey left just in time . . . the "vomiting cycle" of anesthesia recovery began just minutes after her departure. They finally wheeled me to my room after 10pm . . . I kept crying for food as my stomach was doing somersaults by this point. They finally found me some saltines and jello, which took me only seconds to devour before falling back to sleep.

I tried my best to sleep, but was distracted with nurses waking me hourly to take my stats or to draw blood and a wailing roommate with a broken hip. . . my throat was sore and dry, but luckily they had given me a nerve block to numb my leg completely. The suffering was all worth it though; the surgeries were completely successful and the hospital stay was nearly pain free . . .