Sunday morning (Sept. 25) Jake Silverman and his parents, Nancy and Jeff, will lead the fourth annual Jake’s Ride for Dystonia Research at Hartshorn Elementary School.
The ride will raise money for the Bachmann-Strauss Dystonia & Parkinson Foundation, which provides seed money for grants for doctors and scientists who are trying to find a cure for Dystonia and Parkinson’s.
The Foundation has raised more than $20 million and funded 212 grants. Over the past three years, Jake’s Ride has raised almost $725,000. “Our goal is to reach $300,000 this year so we can hit $1 million over four years,” says Nancy Silverman. She anticipates this Sunday’s ride will attract at least 1,000 bicycle riders.
Jake, an articulate, funny 15-year-old at Millburn High School, has made enormous strides since he was first diagnosed with dystonia in fifth grade in 2006.
The diagnosis came after Jake’s muscles began to spasm and he developed excruciatingly painful nodules in his feet.
“He had beautiful penmanship but then his hands started cramping and he didn’t want to write in school,” says Nancy. “He would posture and do repetitive movements to the point where it was exhausting him. He couldn’t walk. We were up every single night massaging his body so we could relieve his pain. One day, I walked into my bedroom and he was in a pretzel position. He said, ‘Mom, my body wants to stay this way.’ This was a kid who played baseball and lacrosse. His life was deteriorating.”
Jake ended up in a wheelchair as a wide range of rheumatologists and neurologists struggled to figure out what was wrong.
“We were spending tons of money on specialists who didn’t take insurance,” says Nancy. “People thought we were crazy. We visited one New York neurologist who looked at Jake and said, ‘Your pain is not real.’”
Finally, a visit to Dr. Nutan Sharma, a neurologist at Massachusetts General Hospital for Children, solved the problem. Dr. Sharma took down an antiquated textbook and opened it to a picture of someone who was posturing.
“It looked like Jake,” says Nancy. Jake was diagnosed with dystonia, a painful muscular disorder that causes uncontrollable, painful spasms in various parts of the body. Dystonia affects roughly 500,000 people, and occurs in both children and adults.
It turned out that Jake had been sick with an undiagnosed bout of strep. The strep had turned into rheumatic fever, which triggered the dystonia. (Nancy Silverman urges parents who suspect their children may have strep but test negative for it to get a blood test done, and not rely on the throat swab that many pediatricians use.)
Why did it take so long to have the dystonia diagnosed? People with dystonia often have the DYT1 gene, which is common among Eastern European Jews. But Nancy, who is Italian, does not have the gene and Jake did not test positive for it. It turns out Jake's dad, Jeff, did test positive for it and had a distant older cousin who also had distonia in his hands.
“It is hereditary, and it is genetic,” says Nancy. After the diagnosis, Jake was given a range of medicines for Parkinson’s disease. “The pain was so horrible,” says Nancy. “I was begging for medications and some were hard to get.”
Some of the medications were not approved by the FDA and some were only available in Canada, she said.
“We were trying to control the pain, it was so hard to bear,” says Nancy. “Jake was a zombie, I did things I never thought I’d do, like having him take Valium.” Jake says that at one point, he was taking up to 36 pills day.
Then the medications stopped working. Doctors recommended that Jake have a surgery known as “deep brain stimulation.” “At first, when they talked about it, I said, ‘’We’ll never do that,’” says Nancy. “Then I said, ‘Please schedule that.’”
Deep brain stimulation is a procedure that puts leads into the basil ganglia and forces the brain to find new pathways. It is not approved by the FDA for dystonia but is done on dystonia patients for “humanitarian purposes.”
The Silvermans' insurance company did pay for the surgery. The risk of infection from the surgery is extremely high in children. Jake had the procedure done at Mass General. The surgery took place in two parts and took many hours. Jake was awake as doctors drilled into his skull, ran wires down his neck and put a battery into his chest. He developed a serious infection but recovered and the surgery was successful.
“I’m a million times better than I was,” says Jake. “I still have limitations: I can’t play contact sports, I fatigue easily, I never sit still, I can’t write and (at school) I use a scribe.” But he adds, “I can read, I can bike, I can walk around.”
Jake is a sweet, self-aware, funny and reflective young man who chats easily about school and friends, and like most teenagers, enjoys playing video games and going on Facebook.
“We’re still seeing improvements,” says Nancy. “For the longest time, he couldn’t cut his own food and now he can.”
Though Jake still has pain in has hands and suffers from finger fatigue, he has a part-time job wrapping sandwiches, sweeping and stacking shelves at a deli in Long Beach Island, where the family has a weekend home.
Jake’s recovery has been excellent. But, says Nancy, “If you interview all the people with dystonia, it’s one horror story after the next. I have these mothers call me, and they’re desperate. They’re at their wits’ end and they don’t have money. Years ago people with dystonia ended up in institutions. You need so much money and resources when you’re in this situation.”
Hopefully, the money raised through Jake’s Ride and the Bachmann-Strauss Foundation will lead to a cure, she said.
Jake’s Ride information:
Sunday, September 25, 2011 Registration begins at 7:30am.
Distances and start times:
20 mile Ride - 9 a.m.
10 mile Ride - 9:10 a.m.
5 mile Ride - 9:20 a.m.
1 mile Ride - 9:30 a.m.
1 mile walk- 9:30am (Please note walkers will be on a different course than riders. Walkers are not allowed to walk along side bike riders)
Kids aged 5-17: $25.00.
Kids under 5 ride free.
For more information go to http://www.jakesride.org