A Muscular Dystrophy Diagnosis, a Bike Race and a Daughter’s Love | The Doctor Weighs In
A mid-life diagnosis of muscular dystrophy causes a doctor to reflect on what he has lost and what he has gained.
I am a sixty-year-old anesthesiologist fast approaching the home stretch of my time practicing medicine. I am hoping for five, maybe six more years at the most. When I have turned the desflurane vaporizer1off after anesthetizing my last patient, I plan on being ready for whatever comes next. I am also a storyteller and write about the amazing and inspiring people I have had the privilege to care for. They are tales filled with great courage and resilience, about people who struggle mightily to survive and overcome their illnesses, sometimes in the face of long odds. At times these stories celebrate the unbridled joy of hope and recovery, but sadly not all of them end well, exposing at times the tragic and bottomless feeling of loss.
This story is a particularly difficult one to tell because it is about me. More specifically it is about the discovery in my forties that I carried a defective gene on my fourth chromosome called DUX42that for some inexplicable, and maddening reason became active. My mid-life crisis didn’t involve a fancy sports car, a wild trip to Vegas, or god-forbid, a divorce. Instead, it manifested itself in the expression of this wayward gene, resulting in a progressive debilitating form of muscular dystrophy called facioscapulohumeral dystrophy, or FSHD3for which there is no treatment and definitely no cure. The disease is slowly but inexorably replacing many of my muscles with useless non-contractile tissue, robbing me of the ability to do many of the things I love, including potentially my work. I sometimes imagine that this disease is like a thief in the night who steals my finest unique possessions. Instead of just taking them, he mockingly leaves poor facsimiles of the stolen objects behind, reminding me always of what has been lost and what can never be replaced.
In this story, I will enlist the help of my daughter Kate4, also a writer and a keen, longtime observer of me. Her memories and impressions of the progression of my condition are candid and sharp…