How Charcot-Marie-Tooth Disease Has Affected 3 Generations of My Family

We didn’t really know what caused Grandma’s disability. She was the matriarch, was a strong farmer’s wife who, in her youth, could slaughter a hog, can a garden’s worth of tomatoes and cook huge Thanksgiving meals for 50 people. But from the time I could remember, she walked with aids: a wooden cane and later a walker. I remember the “sound of Grandma,” her heavy orthopedic shoes slowly step-slapping down the halls of their old house. Eventually she used a metal wheelchair, pushing herself around the kitchen with her gnarled hands.

Regardless, Grandma remained in charge of the family, orchestrating the holiday meals from her wheelchair and ordering everyone around. Physical weakness didn’t impact her strength of will or her personality. As a child, I accepted her decreasing abilities. The aids she used to maintain her mobility were just part of her furniture. As a hyperactive kid running circles around the backyard, it never occurred to me that grandma’s health condition would be handed down like the old bag of marbles she once gave me.

Mom also had trouble walking. Like Grandma, she step-slapped, and at the age of 50, she began using a cane. She was frequently hospitalized for foot problems. A single mother, she supported us with her career in interior design, but her feet bothered her more and more. By the time she was 60, she used a walker. By then I had moved far away from home. One day she called me saying it was hard for her to work, and could I come back for a while to help her? No longer able to keep her balance, she couldn’t stand up long enough to measure offices. She applied for disability and quit working, gradually trading her walker for a wheelchair.

We knew Mom had a weird-sounding disease: “Charcot-Marie-Tooth.” In the days before the internet, we didn’t know what that meant, and had few ways of finding out. The doctors confirmed what we’d already guessed: the “family disease” was genetic. Mom had inherited it from Grandma, who’d likely inherited it from her father. However, this was also before widely available genetic testing. For me, it was “wait and see” whether I had inherited the same muscle weakness as my mom and grandmother.

Grandma passed away 25 years ago. Recently, after many years of living independently, Mom moved into skilled nursing; she could no longer manage on her own. My abilities, like Mom’s and Grandma’s, have declined more and more. I got a job with really good health insurance, and about five years ago, I was tested. It confirmed what I already knew: I have the family disease.

These days, I sometimes walk with a cane. I can’t dance all night like I used to. There are days when I overdo it and have to lay down and sleep right this minute. (Now I understand why mom took all those naps.) And sometimes, when I’m alone, I break down and cry for the loss of the abilities and the very active lifestyle I used to have.

Thankfully, times have changed. Unlike mom, who wore ten-pound orthopedic leg braces, I have, through trial and error (and the help of amazing orthotists) found strong, lightweight ankle-foot orthoses (AFOs) and shoes that help me stand and walk with near-normal strength. Coming from the “fitness generation,” I’m much more active than Mom and Grandma were. I walk and bike as much as possible, and work out regularly. I stopped drinking, understanding the impact of alcohol as a neurotoxin.

Unlike Mom and Grandma, I have the benefit of new research and readily available information on our disease: its progression, its genetic makeup, new drug and gene therapies. I also benefit from the work of disability activists who fought hard for things like wheelchair ramps and job accommodations.

However, Mom and Grandma gave me something that was invaluable: their strong models of how to “do disability.” This disease impacted their lives in huge ways, and they had to learn to adapt. They asked for help when they needed it, and shooed you out of the way when they didn’t. They grieved their declining abilities. They created disability-friendly environments, and were loudly frustrated when accommodations were inferior or nonexistent.

I’m grateful for their wisdom and experience as I travel on this journey called Charcot-Marie-Tooth.