Over 300,000 Americans are diagnosed with the often disabling neurological movement disorder: dystonia. Among 11-year-old Jacob Spielberg from Louisville — the first person in Kentuckiana to undergo what’s being called a miraculous treatment. As WAVE 3 Medical Reporter Lori Lyle explains, until recently, people like Jacob had little hope.
Jacob has a lot of likes. “I like cars, I like paying basketball a lot. I like doing magic tricks.”
Jacob suffers from dystonia, and missed a lot of school last year. When he was there, he had to travel the hallways on a Segway.
“I’m glad to be back in school,” Jacob says. “I’m sure no kid would say that. But I’m glad to be back in school.”
And he now longer needs the chariot. “It was fun. But I was glad to get off of it.”
Jacob’s mom, Linda Spielberg, says he was diagnosed with genetic childhood dystonia when he was 8. “It started in his right leg, then it moved up into his arm and his arm was crooked. He had trouble writing.”
He also had trouble walking because his muscles were so contorted. And he was in constant pain.
As Dr. Walter Olsen, a neurology specialist in movement disorders, explains, dystonia is the failure of the one muscle to relax while the other muscles contract.”
Dr. Olson says of the dozens of types of dystonia, Jacob’s is among the worst. “It’s generalized, so it’s not just a limb. It’s both arms, both legs — often the spine. So you get all crunched up and you can’t move.”
Jacob knows just how true that is. “I could barely even walk, and get off the floor.”
At one point, he was taking 19 pills a day. Linda says he “couldn’t hold his head up, couldn’t hold his neck up, couldn’t straighten out.”
Jacob’s neurologist in New York, where genetic dystonia is much more prevalent, recommended a deep brain stimulator or DBS, which has been used to treat patients suffering from Parkinson’s disease for years.
Research shows it’s extremely successful on patients with the DYT1 gene, which causes the type of dystonia that Jacob suffers from. “It’s more effective than anything we have, because nothing else is anywhere near as effective,” Olson says.
Still, it’s brain surgery, and though Jacob’s New York doctor has helped to pioneer the procedure, an infection caused major complications that took months to recover from. “The two surgeries turned into five,” Linda said.
“I would have wished something easier,” Jacob said, “but I’m glad that I did it because I’m so much better than I was. I can play a lot more sports. I can run.”
Botox is another treatment breakthrough helping many patients. For now, DBS is only proven to work on genetic childhood dystonia, but research is on-going.
And this Saturday, September 30th, money is being raised for research. Jacob is the honorary chairman of the Freedom Run For A Cure, a motorcycle poker run that starts at 11 a.m. at Wheels For Fun on Preston Highway.