CCD: Surprised by Progression

“In my opinion, I’ve progressed a lot,” says 41-year-old Sandy Doak, who saw little progression of her central core disease until about five years ago, when she was in her mid-30s. “I didn’t have muscle spasms years ago, and I didn’t have these aches that I have. I’m a very active person, and I’ve been experiencing fatigue that I’ve never experienced.”

Sandy Doak's CCD began to progress about five years ago. She can still work and manage her household.

Doak lives in Imperial, Mo., with her husband and three children and processes medical claims for the carpenters’ union in an office in St. Louis.

She’s not the only person in her family who’s affected by this genetic disease. “When I was in my 30s, I started having discussions with my brother and sister,” she says, “and they too were experiencing some things. It was the first time I had ever heard that my brother could never do a sit-up.” Her brother has two children, one of whom, at age 14, also was beginning to have some muscle problems. “They had to put her bedroom on the first floor,” Doak recalls.

“We believe that my grandfather, my dad’s dad, had the disease. Looking back, I remember him having difficulty with getting up from sitting positions, walking with a cane, and having difficulty with steps. We believe that, out of nine of his children, he passed it to my father and one sister of my father. That sister is now deceased, but I know she also had the issues that we all struggle with.”

Five years ago, Doak and her husband built a new, two-story house. “I was having difficulty with steps,” she recalls, but nothing severe enough to make her think twice about building a house with a staircase.

“But something happened to me about five years ago, and I’ve just progressed significantly compared to what I did in the last 30 years,” she says.

“I would never have bought a two-story house had I known that I was going to be doing what I’m doing now. I used to be able to go up steps and kind of fake it. My legs would hurt and burn. I would go up with somebody behind me, and they would say, ‘Are you limping a little bit?’ But now I have to send everybody up ahead of me and go up like I’m 90 years old. I go up very slowly. I have to hold onto the banister.”

Recently, while visiting a friend who had offered to style her hair, Doak had an experience that shocked her. “I went over there and realized her salon is in the basement. I looked down, and I realized my face probably turned white, because there were steps, but there was no railing; it was just wall. But I thought, I’m going to go down anyway. I had my hair done, and she insisted on walking me up the stairs on my way back. She said, “I’ll walk you up.” I didn’t want to tell her about my disease. I just hadn’t shared that with a lot of people.

“I said, ‘Go up ahead of me.’ When she got up to the top and turned around, she saw that I was on about the third step and almost crawling. I had to hold on and crawl up the rest of the steps.”

In January 2010, Doak visited the MDA clinic at Washington University in St. Louis and talked with neurologist Alan Pestronk, the clinic’s director, and other professionals, including a physical therapist. She learned that what she had been told earlier by another doctor — that she could exercise as much as she wanted in whatever way she wanted — might not have been good advice.

Much to her dismay, she learned that a combination of frequent stair climbing and regular use of an elliptical trainer, which she thought was building muscle, might actually have been destroying it. She’s planning to work with the doctors and therapists at Washington University to modify her approach to exercise.

The disease now seems to be progressing to include her upper body, whereas earlier it mainly affected her legs. Fixing her hair, cutting her son’s hair, and even resetting the buttons on the car radio have become problematic. “My arms fatigue and I have to stop what I’m doing and rest.”

Doak realizes there are many people with muscle diseases who are far worse off than she. “But,” she says, “In my mind, I used to be able to do things that now I can’t. It’s still bothersome.”