Emily Blum’s hair grows more every day. What were once long tresses below her shoulders, the 32-year-old communications director has gladly surrendered for a new brain surgery and the freedom to enjoy a mile-and-a-half walk each day in her Chicago neighborhood. Not long ago, Blum was struggling to walk only a couple of blocks; then recently her life changed with a cutting-edge therapy called deep brain stimulation (DBS).
For most of the last 20 years, Blum struggled with walking because of a brain disorder called dystonia (literally meaning abnormal tone). Damaged motor circuits deep in her brain caused involuntary contractions of her muscles and produced a gait that was jerky, painful and exhausting.
Then earlier this year, Blum underwent a procedure implanting a thin wire deep into each side of her brain. These wire leads were then be programmed to direct electrical impulses into the brain tissues (the mechanism for DBS therapy). Pioneered by the medical technology company Medtronic, DBS has been approved by the U.S. Food and Drug Administration (FDA) for patients with dystonia who have not responded to less-invasive medication therapies. Through DBS, Medtronic adds an important new tool to its arsenal of high-tech medical products, furthering its stated corporate mission of “alleviating pain, restoring health and extending life for millions of people around the world.”
Certainly for Blum, the therapy has been a success, giving her a freedom she hardly dared to hope for in the past. “When you’re first diagnosed,” she says, “you hold onto the dream that they’re going to develop some magic pill. But eventually you stop holding your breath. You get to the point of thinking, this is what my life is going to be like. I honestly didn’t believe there would be a cure in my lifetime.”
WHAT IS DYSTONIA?
Affecting an estimated 300,000 individuals in the U.S., dystonia stems from damage to deep circuits of the brain that coordinate movement. This damage is sometimes congenital, and other times arises from head injuries or other brain illnesses acquired later in life. The result is involuntary writhing movements and contractions in the large muscle groups of the body, often leading to painful contortions. There are varying degrees of dystonia, and symptoms can range from what is commonly known as writer’s cramp to debilitating contractions of the neck, trunk or limbs that greatly hinder patients’ quality of life.
According to Richard Kuntz, MD, president of Medtronic’s neurological businesses, dystonia differs from more commonly recognized movement problems like tics in both the duration and the character of muscle contractions. “A tic is a jerky movement, usually very brief, and doesn’t generally involve large muscle groups,” Kuntz explains. “Dystonia, on the other hand, is a very slow, writhing kind of movement that’s often sustained. So a tic would be something like a quick eyelid twitch or a jerk of their head, whereas a dystonic movement might be a total twisting of the head to the right side, or maybe a crunching over of the back into a sustained contortion that looks—and is—very painful.”
For some patients the contractions of dystonia come and go, and for others they are nearly always present, disappearing only with sleep. Often they hurt severely and— as in Blum’s case—cause significant functional impediments. In some instances, when a localized area is affected by dystonia long enough, permanent malformations occur in the growth and shape of nearby bones, causing secondary disabilities.
DBS: THE PROCEDURE
DBS is one of the latest of a group of therapies called neuromodulation, a type of medical treatment that uses surgical procedures or devices to alter nervous system functioning. DBS utilizes a second-generation Medtronic implantable neurostimulation system, somewhat analogous to a cardiac pacemaker, which is placed under the skin just below the collarbone. The device is connected with extensions to two thin, insulated wires leads, which are inserted on each side of the brain into a region called the basal ganglia, the motor coordination center. Once the system is activated, it sends a steady stream of electrical pulses through the leads to the targeted brain areas, redirecting the circuits for motor control.
Once the device is implanted by neurosurgeons on the DBS medical team, the patient heals for a couple of weeks before the system is turned on. Then the neurologist can program the device in the office to see if the dystonic movements can be controlled. Patients may not feel the full benefit of the procedure for three to four weeks.
To ensure that the leads are placed in the correct spot (through a complicated imaging process called brain mapping), patients must remain awake (though sedated) during DBS surgery. When asked about the actual procedure, Blum recalls, “Looking back, it wasn’t pleasant, but it wasn’t terrible. The idea was a little scary, but in the end it wasn’t too bad.”
In earlier years, a lack of large double-blind studies raised questions in some quarters about whether DBS was really effective enough to justify the invasiveness of the required surgery (even with a low rate of complications). However, a recent double-blind study published in the New England Journal of Medicine is helping to change that outlook, as the research demonstrates with the highest level of medical evidence that DBS is an effective therapy for treating dystonia. Kuntz believes the study’s publication may help break down remaining barriers in getting patients access to the procedure. “These randomized, double-blind studies provide incontrovertible evidence that in fact patients with dystonia really benefit from DBS therapy,” he says.
WHERE TO START WITH DBS
One of the biggest challenges people with dystonia face is a critical lack of knowledge about the condition, both within the general public and within the medical community itself. Patients often go undiagnosed—or misdiagnosed—for long periods of time, believing they have anything from a nervous twitch to a psychiatric condition.
Says Kuntz, “A lot of doctors, especially general practitioners and even some neurologists, aren’t really facile with this problem of dystonia.” He notes that many physicians have trouble recognizing the condition, do not always know how to make referrals to the appropriate specialists and are often not aware of effective treatments. Therefore, the first critical step for patients is to find a neurologist who is knowledgeable about movement disorders. “The movement disorder neurologists have established a practice pattern for people with dystonia, essential tremor, Parkinson’s disease and other conditions,” he says. “That process is well established. If other therapies are not successful, they will work with the neurosurgeons who do DBS therapy.”
Medtronic is finding that some of its best publicity about DBS is word of mouth from patients who have undergone the procedure. “We’ve had patients who have received a profound response, and then almost make it their mission to help other people they see struggling with dystonia,” says Kuntz. “If they see somebody in a mall who has the disorder, they’ll go up to them and say, ‘Excuse me, but this problem you’re having, I don’t know if you know that it’s called dystonia, and it’s treatable.’ We’ve heard that from several patients.”
For Blum, DBS has been life-changing to say the least. These days she rises each morning at 5:30 am and happily strides out into the Chicago weather—rain, snow or shine. “Honestly, it doesn’t matter if it’s 105 degrees out or 105 below zero—I do it,” she says with a grin. “My mom always says to me, ‘You’re crazy! It’s too cold outside—why are you doing this?’ I always tell her, ‘Because I can.’”
by Claudia Faerber
Dystonia Medical Research Foundation www.dystonia-foundation.org