Updated: February 19, 2012 8:15AM
A teacher at her ballet school in Western Springs first noticed the problem.
Emily Blum, then 9, was walking on the sides of her feet.
The teacher said, ‘You know, her foot’s turning in,’” recalls her mother, Barbara Blum. She couldn’t rise up on her toes.
“That was the beginning of going to a series of doctors and enduring lots of different medical tests,” says Emily Blum, now 37 and a resident of the Logan Square area.
She walked oddly; her muscles felt weak.
“They thought it was something called Charcot-Marie-Tooth, a degenerative muscle disorder,” she remembers. The girl had two surgeries to correct what one doctor thought were misaligned tendons.
“In hindsight, that was completely unnecessary,” Blum says. Her condition worsened.
“I was a very active kid,” says Blum. “I had to give up a lot of things. It became difficult to walk more than two blocks.”
No one could figure out what was wrong.
“There was nothing abnormal about muscles, my skeletal system was normal, my nerves were completely normal,” says Blum.
Yet she could walk more easily backward than forward and sometimes needed a cane.
“Things were continuing to get worse,” she says. “That’s when the doctors came to the conclusion I was making it up. I was walking this way to get attention from my parents, who were getting divorced.”
When she was 15, a diagnosis was finally suggested: dystonia, a movement disorder little known 20 years ago and still obscure today, even in our health-obsessed society.
“There are no tests, it is not so easily recognizable,” says Dr. Leo Verhagen, a neurologist at Rush University Medical Center, who estimated that 300,000 people in the United States struggle with dystonia, which can involve different parts of the body — a kicking of the legs or twisting of the neck.
“There are very clear patterns,” he says. “It’s not psychogenic ... there is a dystonic gene mutation, the DYT1 gene. When people have this, they usually have symptoms.” It can also be caused by brain injury.
Chicago’s Dystonia Medical Research Foundation helped recommend treatments.
Initially, Emily Blum was treated with Artane and other muscle relaxers, which left her tired but able to function. She went to Kenyon College, because it was small and easy to get around. She graduated, went to work, and now heads communications at an anti-poverty group, Heartland Alliance.
“It was a struggle,” she says, of controlling her dystonia. “Those were tough years.”
When she was 30, doctors suggested a process called “deep brain stimulation;” a pair of electrodes are implanted in the brain.
“You make a burr hole in the skull, dime size, under the hair, and then go down to the target,” says Dr. Verhagen. “We go micron by micron toward the area until we reach the point where we want it to be.”
The electrode is also guided by sound.
“We have a speaker so we can listen to the cells — the sounds of the cells we are stimulating through the electrodes, to give us an idea of the responses,” says Dr. Verhagen. The patient is awake the whole time.
“We can ask, ‘Do you see any flashing lights?’ This is just above the optic track,” says Dr. Verhagen. “It’s important — you want the patient to be able to give feedback.”
Small electric shocks continuously jolt part of the brain, somehow easing dystonia.
“This is a software rather than a hardware problem,” says Dr. Verhagen. “Something is not firing right in the brain cells, but by superimposing a current you interfere with that pattern.”
Deep brain stimulation greatly improved her condition. “It’s changed everything,” says her mother.
“That made a world of difference,” Emily Blum says. “Now I walk mostly normally. I don’t use a cane, don’t take any medication. No question it was life-changing.”
Her long search to find out what was wrong inspires her to try to help others.
“We spent so much time spinning our wheels,” she says. “My hope is that when a child presents symptoms, it is a matter of months and not years to get diagnosed. Hopefully somebody out there who’s reading this sees their child maybe has dystonia and will think they should go to a neurologist and check it out. That would be fantastic.”