The Brain in MMD

Specialists, support groups and stimulant medications help families cope with the unusual cognitive and personality effects of type 1 myotonic dystrophy.

*Many people interviewed for this article asked not to be identified to protect the privacy of affected family members.

by Margaret Wahl

“Everybody knows the word apathy,” says a California woman whose 25- year-old daughter’s type 1 myotonic dystrophy (MMD1, sometimes called DM1) was diagnosed just a few years ago. “People use the word loosely. I don’t think it does justice to the reality of this disease.”

As often happens, the young woman’s MMD1 wasn’t recognized until she gave birth to a child with the severe congenital-onset form of the disease. Says her mother, “Apathy itself, the absence of emotion, doesn’t really capture all the nuances. She’s 25 but functioning like a child or a teenager. If you can’t think beyond the moment, then how can you be motivated?”

In a Dallas suburb, S.M., an administrator at an insurance company, has coped for more than two decades with caring for her husband and two children with MMD1. “She’s doing nothing right now,” she says of her 20-year- old daughter, whose diagnosis came in her freshman year of high school. “She doesn’t really have any skills, and I can’t get her motivated to get skills.”

She and her husband didn’t learn about his MMD until he was in his 30s. “We just thought he was moody or lazy or afraid of being around people,” S.M. says. “I took him to doctor after doctor, psychiatrist after psychiatrist.” Finally, after a fall, a neurologist examined him and made the diagnosis.

Her son, whose disease is the congenital-onset form, was “really slow at everything” from birth, although his disease wasn’t diagnosed until he was 8. “He wasn’t potty-trained until he was almost 4. He started kindergarten at 5, and that was horrible. He couldn’t sit still. He would fall a lot.”