My mother was diagnosed with myotonic dystrophy (DM) circa 1990 before there was a DNA test available. When my parents told me of this diagnosis they never mentioned it was a genetic condition nor that it was serious. All I knew was that she appeared before medical students at the University of Miami School of Medicine so they could see that one leg calf had less muscle tone than the other. She had more severe health situations than thin calf muscles and had been repeatedly hospitalized.
In 1990 there was minimal information available about DM. As it turned out, so many of her health issues (gallbladder and GI problems, early cataracts, daily fatigue, respiratory problems, etc.) were related to the disorder. In the last few years there have been scientific studies looking at DM and cancer which suggest that people with DM are twice as likely to have certain cancers. My mother smoked her entire adult life, was often depressed, and drank alcohol daily — creating a fertile environment for the lung and brain cancer which caused her death.
We have also learned through scientific research that myotonic dystrophy, in addition to being passed on with 50% probability for each offspring, has a component called anticipation. Essentially this means that the severity of the condition increases with each generation and often with each birth. My parents had another daughter nearly two years after I was born but she lived only three days. Now I know this child had the more severe congenital form of DM.
So tomorrow I turn 56 years old; my mother died 6 weeks before her 56th birthday.
Searching the Internet, shortly after I was diagnosed in the late ’90s, I discovered a table with data showing the average life span for adult-onset DM being between 48-55. My mother fit that data set.
So tomorrow is bittersweet. I like to think that all of my self-care and positive attitude has pivoted me beyond the dire expectations. Yet these past few months have proven to be physically and emotionally challenging. My respiratory issues, and subsequent sleep study, show that I need breathing assistance at night. My energy has a marked decline and I worry that I won’t be able to recapture it.
Birthdays can be difficult for anyone after a certain age but perhaps more so when you have this anticipated early decline…each year represents more loss to come. I’ll be celebrating with a few friends at a karaoke bar and hopefully that will kick my butt into a more glass half full perspective.
