Making Today Better Than Yesterday While Living With Centronuclear Myopathy

Some of my most vivid memories from childhood involve getting yelled at by my physical education teacher. While I excelled academically during school, I could never run like my classmates. I was unable to do pullups and was afraid of getting knocked down and embarrassed whenever we played football. My teacher blamed this on me being “lazy.” I was even told to run extra laps around the high school track while the rest of my class watched — it was my punishment for being disobedient. I did not know until I was in my late 30s that my “laziness” was actually caused by a form of centronuclear myopathy (CNM).

Knowing what I know now about CNM, the diagnosis makes perfect sense. Centronuclear myopathy is a group of extremely rare, progressive neuromuscular diseases that are caused by genetic mutations. They generally cause muscle weakness at birth that progresses through early adulthood and beyond. CNM can cause delayed motor skill development, muscle and joint pain, and difficulty walking. With no approved treatments available, patients focus on managing their symptoms with medication and assistive devices. As these symptoms worsen, many patients require nearly constant medical care and support from ventilators, braces for head support, feeding tubes, and motorized wheelchairs. Many with CNM die within 18 months of birth. I have been lucky!

I am now 72 years old and CNM has created challenges affecting nearly every aspect of my life. After high school, I went to college and eventually met my amazing wife. I spent years hiding my condition from her (and myself) by trying to play paddleball and tennis despite falling down frequently. We have five children together, but I could not hold them for long as babies. I was afraid I would drop them.

I had a successful career with a phone company near my home in California until it became too exhausting for me to hold my head up for an entire workday. I was forced to retire 20 years earlier than I planned to and I was penalized for it.

I now rely on help from my family and friends for even the smallest of tasks. Getting out of bed, using the bathroom, and getting dressed involves a few hours of work every day and night. Scratching my nose, feeding myself, and rolling over in bed require assistance as well. I try to stay calm, and not panic with the feeling of being trapped in my own body. So far, so good.

Unfortunately, CNM has affected some of my family members more personally than others. Out of my five children, three live with the disease themselves. Two of my eight grandchildren have also begun experiencing symptoms. Despite the challenges some of us face, we are a very tight-knit, loving family. We enjoy having parties, playing games, swimming, and just being together. I believe the presence of CNM in our lives has made us all kinder and more compassionate people. I’m proud of all of us and the lives we built.

I hope that sharing my experiences with CNM will be helpful for my family and all those who live with the disease. I keep a journal in which I give advice to my children and grandchildren who are affected by CNM. It contains the hints and tips I have found the most useful as the disease progresses. But I hope that they will never have to open that journal. I hope that we will all see the day when a treatment for CNM is found so that they don’t have to modify their lives because of this disease. I dream that one day, we will be able to say, “Today was better than yesterday.”