September 2004 -
Striking a nerve by Brad Broberg

Haunted for Five Generations

Charcot-Marie-Tooth disease (CMT) can be a relentless illness. It’s haunted Julie Herwitz’s family for five generations. “As far as anybody can figure, it started with my dad’s mom,” says Herwitz.

CMT is passed down three different ways, but by far the most common inheritance pattern—and the one present in Herwitz’s family—is called autosomal dominant. With this pattern, if one parent—mother or father—has CMT, odds are 50/50 they will pass the mutant gene that causes the disease to their children.

“It’s like a flip of the coin—heads you have it, tails you don’t,” says Thomas Bird, a University of Washington neurology professor and practicing neurologist who has been treating and studying the disease for 25 years.

Although Herwitz’s father was the only one out of three children who inherited CMT, five of his seven children were diagnosed with it, including Herwitz. All three of Herwitz’s sons have it, as does a grandson, two nephews and a niece. “It seems to be getting stronger with each generation,” says Herwitz, a 47-year-old Lynnwood resident who wears leg braces and has had fusion surgery on her right foot to compensate for loss of strength.

For years, Herwitz’s grandmother and her father believed their illness had something to do with polio. They finally learned the truth 40-plus years ago when Herwitz’s father took her oldest brother to the UW, where it was determined he had CMT.

Over the years, as other family members were tested and diagnosed, information from Herwitz’s family became part of an important CMT database. In fact, it was her family’s DNA samples that helped Bird determine that the gene associated with CMT resided on chromosome 1. Later, those same samples helped a Japanese scientist find the specific gene.

One of the great mysteries of the disease is the way its symptoms vary—even in the same family. In Herwitz’s family, her two youngest sons are strong enough to snowboard, yet her niece is in a wheelchair. “We don’t know why it’s so severe in some and mild in others,” says Bird.

Knowing he might pass the disease to his children, Herwitz’s oldest brother chose not to have a family. “I knew I wanted to have children,” says Herwitz, who figured her experience with CMT would help her children cope if they also ended up with it.

“I get frustrated at times,” she says, “but I’ve never looked at it as something that’s going to stop me, and I try to teach my kids that.”

—Brad Broberg

CMT Fact Sheet

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Sidebar - Haunted for Five Generations