Nancy Silverman clearly remembers the night she fully grasped the severity of what was happening to her son, Jake. It was 2007, he was 11 years old — and he had been experiencing muscle spasms that were causing significant pain. As Jake was lying on his parents’ bed, a spasm froze his body. He said to Nancy, “Mommy, my body just wants to stay like this.”
That heartbreaking statement — along with the pain that kept Jake up at night, the increasingly violent spasms and the loss of his ability to walk — led Nancy and her husband, Jeff, to visit doctors all over their home state of New Jersey and neighboring New York. After numerous dead ends, they eventually found Nutan Sharma, MD, PhD, an expert in dystonic movement disorders at Massachusetts General Hospital. She gave the Silvermans a diagnosis that had previously eluded them: Jake had dystonia, a movement disorder that causes the muscles to contract, which leads to repeated movements that aren’t under the patient’s control.
“When we heard that diagnosis and realized it wasn’t a death sentence, we had conflicting emotions,” Jeff says. “Thank goodness it wasn’t a terminal illness, but we realized our cute, innocent child had a neurological condition that didn’t have great treatment options.”
To change the treatment outlook for patients like Jake, the family decided they would do whatever they could to support dystonia research and Dr. Sharma’s work. “I have so much faith in her,” Nancy says.
“We felt like we were alone, with no hope,” Jeff says of the months prior to Jake’s diagnosis. “We had a network and financial resources, and we were still hitting dead ends. If we were in that position, how many others were too? We wanted to do something.”
Along with Jeff’s father and stepmother, Barry and Ilene Silverman, as well as cousins and business partners Michael and Aaron Silverman, they have consistently provided philanthropic gifts to Mass General over the last decade to build dystonia awareness, train fellows to diagnose the condition and advance research for new treatments. For several years, before the family moved from New Jersey to Long Island, they also held Jake’s Ride, a New Jersey bike fundraiser that raised $3 million for the Bachmann-Strauss Dystonia & Parkinson’s Foundation, which, in turn, made grants to Mass General.
The Dystonia Landscape
Dr. Sharma has studied dystonia for 25 years. She has seen professional musicians forced to shorten their careers because their fingers and lips couldn’t perform the fine motor skills necessary to play, and runners whose calf muscles started to contract uncontrollably and who had to give up the sport.
Current treatments include oral medications, botulinum toxin injections — since the medication relaxes the muscles — and, in severe cases, deep-brain stimulation (DBS). The procedure involves surgically implanting a battery in the patient’s chest, with wires to the brain that interrupt the abnormal messaging that travels from the brain to the muscles that causes them to spontaneously contract. About three to four weeks after DBS implantation, the patient visits the outpatient clinic, where Dr. Sharma turns the battery on and uses a Bluetooth tablet to adjust the amplitude and the frequency of the electric stimulation. With this approach, DBS can ensure that the part of the brain controlling the muscles fires at a certain rate with a certain voltage.
“What was typical of our experience with Mass General: it was like a family. Dr. Sharma pioneered DBS for children, but we never felt like she and her team cared for just Jake. They cared for all of us.”
While DBS is effective at treating the symptoms of dystonia for many patients, researchers are working to understand the root causes of the condition. At the beginning of Dr. Sharma’s career, Mass General neurologists had identified only one gene that played a role in the illness; now, thanks to leaps in genetic research and philanthropy from supporters like the Silvermans, she and her team have found more. With these advances, Dr. Sharma hopes to find alternative treatment options.
“The genetic form of dystonia affects a small group of people, but, now that so many genes have been identified, we can discover drugs that work in that population and see if they work for others,” Dr. Sharma says. “The fact that the Silvermans have given a gift every year has allowed me to take chances with this research because I know that I have this support.”
“A Badge of Honor”
Dr. Sharma first treated Jake with oral medications, and Nancy says Dr. Sharma had the foresight to guide him in managing his own illness. “She knew he would have this for the rest of his life,” Nancy says. “By teaching him to own his illness, and be responsible for it, Dr. Sharma helped turn him into a young man who could make his own decisions.”
Soon after Jake started the medications, though, they stopped working. The family quickly faced one of those difficult decisions: whether to go through with DBS. As they weighed the choice, Dr. Sharma thoroughly outlined the process and put the Silvermans in touch with other parents whose children had dystonia, so they could share their stories. In 2008, at age 12, Jake became one of the first pediatric patients to undergo the procedure. All of Jake’s friends shaved their heads in support; Jake, to needle his Boston-based doctors, shaved 18-1 — a reference to the New England Patriots’ Super Bowl loss to his New York Giants that year — into his hair. When he came out of his successful surgery, he saw his doctors had gotten the joke, and that they had answered with one of their own: the “1” had mysteriously disappeared.
“What was typical of our experience with Mass General: it was like a family,” Jeff says. “Dr. Sharma pioneered DBS for children, but we never felt like she and her team cared for just Jake. They cared for all of us.”
“Jake wore his dystonia so proudly. Those scars were like a badge of honor,” Nancy adds. “He wasn’t embarrassed, and that helped a lot of other children.”
A Decades-Long Connection
Jake is now 29, living in Brooklyn, walking 15,000 steps a day and continuing to see Dr. Sharma monthly for his dystonia care. He’s still in pain, Jeff says, but his “glass half full” perspective helps as he makes the best of his condition.
Over the last 20 years, the connections between the Silvermans and Mass General have grown. Dr. Sharma attended several of the fundraising rides in New Jersey and even visited Jake when he was at college in Washington, D.C., since her son was attending college there as well. She has also diagnosed dystonia for others in the Silvermans’ community, generating awareness and giving those families the knowledge they needed to move forward.
For Jeff and Nancy, seeing this progress in dystonia awareness and research reminds them of why they give. They’ve met many of the fellows who have trained in dystonia as a result of their support, and the couple takes comfort in knowing these clinicians will be in other hospitals and cities around the world to help more children.
“When we first experienced dystonia, there weren’t doctors who could diagnose children, and the research was so behind,” Nancy says. “It makes me feel so much better to know that other kids can get diagnosed when they need it.”
“We’re doing this not just for Jake, but for all the other Jakes out there,” Jeff adds. “We have to leave the world a better place.”
To learn more about supporting dystonia and neurology research at Mass General, contact us.
