Living with rare disease, she clings to normalcy

Deborah Garbarini made scrambled eggs and buttered toast for breakfast. She gently brushed 6-year-old daughter Maddie's hair, prodded her 8-year-old son, Drew, to brush his teeth, packed up their backpacks and got them into coats, mittens, hats and boots. Then she drove her two children to school, shouting to Drew to remember karate practice.

It was a familiar scene, playing out across the Twin Cities on a bone-chilling morning last week. But at the Garbarini home in Blaine, there were hints that these simple tasks were, in fact, extraordinary efforts by a mother determined to maintain normalcy for as long as possible.

Garbarini, 37, has Pompe disease, the focus of the new movie, "Extraordinary Measures," starring Harrison Ford and Brendan Fraser. Pompe disease is a rare, inherited, neuromuscular disorder which, like muscular dystrophy, causes progressive muscle weakness.

This is why Garbarini has difficulty getting up from a chair and why she uses her feet to pull out the sliding bottom drawer holding her skillet. Why she carries a hands-free backpack, instead of a purse, and why packing boxes are stacking up in the dining room. Garbarini and her husband, Joe, plan to put their two-story home on the market this spring, hoping to move this summer back to tiny Batesville, Ind., where Deborah grew up.

It's time to be closer to family.

"I can't sit around and worry. That's not living," Garbarini said. "In the moment, it doesn't seem like things will work out, but they always do."

Every other Monday, Garbarini spends four to six hours in an oncology clinic receiving an intravenous infusion of Myozyme, the drug that's the premise of the movie, which the couple saw and liked. Since beginning the clinical trial two years ago, they've been buoyed that her symptoms have stabilized. She maintains good arm strength. Achiness has subsided. "I didn't know I could feel so good," she said.

Joe copes in his own way, working hard so that his wife of 15 years can stay on the home front, assisting her, but not so much that she feels coddled.

"It's tough watching her struggle," he said, "knowing what we used to do with the kids, playing in the yard, sledding."

'Are you going to die?'

The kids, who were adopted after the couple faced years of infertility, know that Mom has a muscle disease, "and that I can't do the things their friends' moms do with them." When the disease was diagnosed in 2007, Garbarini recalled, "Drew asked me, 'Are you going to die?' It took me a minute to answer. Then, I told him, yes. Someday. There's a cycle to life and no one knows when we're going to die, but we all do. That's a truthful answer."

Looking back, signs were evident long ago. "I played sports in high school -- basketball, volleyball, softball -- but I could never keep up with anybody," Garbarini said. "I was always short of breath. My body was always hurting me. My mom said it was 'growing pains.' She'd rub Absorbine Jr. into my skin to soothe me."

She married Joe, her high school sweetheart, in 1995. Still struggling physically in 2002, she was sent by her doctor to a physical therapist. When she failed to make progress, he suggested that she wasn't exercising correctly.

"That's not the case," a frustrated Joe said. "She's doing them right!"

Next came an orthopedic surgeon, who watched Garbarini's gait as she walked out of the room. "You need to see a neurologist," he said.

The diagnosis, not surprisingly, left them reeling. "We were in shock," she said. "We did the worst thing you can do. We went on the Internet. What's Pompe disease?"

The medication has helped

Joe's company, General Electric, has been a godsend. "When we found out," she said, taking a minute to regain her composure, "the first thing they asked was, 'Where is your support system? We'll do whatever it takes to make this work for you.'" That included adding Indiana to Joe's territory.

They have wonderful next-door neighbors, too. "They shovel my driveway when Joe is out of town, or bring up my trash cans because I am so afraid of falling."

A neurologist evaluates Garbarini every six months, and her treatments will continue after the move. She tries not to think beyond that, but can't help herself.

"I worry about not being here," Garbarini said, "about how the kids will understand, how it will affect my husband, having to do it all on his own.

"But the movie, it gave a lot of families hope, and that's huge."