It doesn't seem like a big deal to most people, but being able to slip her foot into a regular sneaker and walk around is something that 12-year-old Sarah Santana of El Dorado, Calif., didn't think she'd ever get to do again.
When occasional foot cramps became involuntary muscle spasms three years ago, and her foot permanently locked into a painful ballerina point, she wanted help. Sarah was nine when her feet, legs and soon her arms began randomly jerking, contorting and locking.
It took a year of specialists, tests and questions before she was diagnosed with a hereditary form of dystonia, a movement disorder that occurs when the brain sends mixed messages to the body, causing a range of physical malfunctions and painful postures.
Because the disease was progressing quickly, Sarah had to give up her tap dancing lessons and soon had trouble feeding herself. "It got to the point where she could not walk much anymore," says Sarah's mom, Monica, who would wheel her daughter around at the grocery store. Sarah tried a series of medications and a botox treatment — all in an effort to relax or paralyze the muscles that were causing her so much distress.
But nothing worked.
After two years of trying different treatments, Monica heard about Deep Brain Stimulation (DBS) — an advanced but delicate brain surgery procedure – from a doctor and a dystonia support group member.
"When you hear brain surgery it sounds horrible," says Monica, who watched helplessly as her daughter's disease progressed. "We knew that Sarah was going to be in a bed if we didn't do something."
DBS has been used to treat dystonia, essential tremor, tremors associated with multiple sclerosis and, most recently, for patients suffering from severe depression. Soon after hearing about the procedure, Sarah and her mother met with Dr. Phillip Starr, co-director of UCSF's Functional Neurosurgery Program and a pioneer in the treatment of dystonia with DBS. "He was so good with Sarah," says Monica. "She would hug him every time she'd see him."
After meeting with Sarah, Starr thought she'd greatly benefit from DBS. "Brain stimulation for dystonia is a fairly new technique, but we've seen that children with hereditary dystonia can get a lot improvement from this surgery," says Starr.
To help decide whether DBS was right for her, Sarah spoke with another young teen who had successfully gone through with the procedure — which involved running a hair-thin wire from a device implanted in the chest, up through the neck and deep into the brain. Sarah decided to give it a shot.
Starr performed the surgery in July 2004, when Sarah was 11. Although patients are normally awake for the procedure, Sarah was put under anesthesia because of her age. The procedure took four hours. A small wire went up through a small hole in Sarah's skull and under her scalp, down to a small device implanted under her collarbone. The device, called a neurostimulator, is adjusted after the surgery to send electrical impulses to a patient's brain. The entire system is hidden beneath the skin.
"The key step in DBS is getting the electrode into exactly the right place in the brain," says Starr. "Sarah's surgery went smoothly and I was happy with the electrode location."
After the surgery, the goal was to send electrical impulses through the wire into Sarah's brain to control the movement center. The stimulation would then block abnormal activity in the brain and interrupts the mixed messages that caused Sarah's painful dystonia.
Starr told Sarah she might see results within six months. "By one month we were seeing results," says Monica. "By six months we weren't seeing the dystonia anymore." Sarah could go now go camping, swim and return to tap dancing class. But the best part was getting to wear normal shoes and walk around. "Just like normal stuff that everybody else does," says Sarah.
After the surgery, her family adjusted the DBS system weekly for about two months. Sarah's family learned how to slowly increase the electrical impulses that the neurostimulator sent to her brain with a small external device. The only thing Sarah didn't like was the slight tightening in her throat that she felt with the adjustments. After two months, nearly all of her painful dystonia symptoms had disappeared and her family stopped adjusting the system.
"Seeing how Sarah improved was very gratifying for our whole team," says Starr.
"It was amazing to see how she turned around emotionally," adds Monica. "She finally didnt feel different anymore."
Sarah has spent one year with the DBS device planted neatly into her body with only minor problems. "I feel, like, way better," she says.
Story written in July 2005.
Daffodil Altan is a freelance writer in San Francisco.