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 . . .