Jacob (Jake) was born in 2018 in Philadelphia. He had a smooth delivery and a healthy infancy, except for feeding difficulties, which were attributed to tongue-tie and addressed early on. At his 4-month well-check, however, Jake’s pediatrician noticed that the baby wasn’t meeting certain milestones, such as head control, bearing weight or pushing back onto his elbows. “That was the first sign that something was ‘off’ developmentally,” says Jake’s dad, Peter. “That appointment really started everything.” 

A rare diagnosis: GNAO1-related disorder

Jake had very low muscle tone, and over the next few months, continued to miss developmental milestones. He was unable to crawl, sit or stand. He had difficulty feeding and struggled to gain weight, eventually needing a nasogastric (NG) tube – and ultimately, a surgically-placed gastrostomy (G) tube – for nutrition. 

Around his first birthday, Jake was evaluated in the Division of Human Genetics at Children’s Hospital of Philadelphia (CHOP), where he was ultimately diagnosed with GNAO1-related disorder, a rare neurodevelopmental disorder caused by variants in the GNAO1 gene. Many patients with GNAO1-related disorder develop seizures, abnormal movements (dystonia), or both. Because the condition is very rare, scientists are still learning about the full spectrum of symptoms it can cause.  

“We had no roadmap for Jake’s future,” says Jake’s mom, Laura. “It was the hardest time of our lives.” 

A progressive condition called dystonia

When Jake was 2, he began to experience abnormal movements associated with dystonia. Children with dystonia experience uncontrollable muscle contractions that cause twisting or abnormal body positioning.  

At CHOP, children with dystonia are treated in the Movement Disorders Program, one of few pediatric programs of its kind in the country. The Movement Disorders Program provides comprehensive, multidisciplinary care for children with conditions that affect the way they move and control their bodies. 

Jake was treated with medication to reduce the intensity of his symptoms. However, his movements began to increase in severity. Within a few years, he was having close to 100 episodes a day, becoming more uncomfortable as he grew in size. The constant movement burned so many calories that Jake struggled to keep weight on and could sometimes cause him to bang his head on his wheelchair or other nearby items.  

Between the ages of 4 and 6, “everything got worse,” says Peter. Dystonia can worsen during illness, when stress on the nervous system weakens the brain’s ability to suppress excessive muscle activity. Jake suffered a series of viruses, each leading to status dystonicus, a severe episode of muscle spasms that can be life-threatening without emergency medical attention. Jake was hospitalized several times, requiring large doses of medication to break the episodes. 

Peter and Laura had heard about deep brain stimulation, a surgical procedure that can provide relief from dystonia symptoms. After multiple hospitalizations – including one movement episode so severe they thought Jake might have to be intubated – Peter and Laura began to realize that surgery might be needed to save their son’s life.  

A life-saving surgery: deep brain stimulation

Patients with severe dystonia that is unresponsive to treatment (called refractory) can be referred to CHOP’s Advanced Tone Management Multidisciplinary Clinic, which provides medication, physical and occupational therapy, as well as surgical intervention when needed.  

Jake’s parents consulted with Benjamin Kennedy, MD, Director of Epilepsy and Functional Neurosurgery in the Division of Neurosurgery at CHOP, about the possibility of deep brain stimulation (DBS). For this procedure, a small, battery-powered stimulator is implanted in the chest with two wires leading to points within the brain. The wire ends emit electrical stimulation that can reduce the symptoms of movement disorders like dystonia. After surgery, a neurologist specialized in movement disorders gradually programs the stimulator to find the best settings. 

Like any parents, Peter and Laura had concerns about Jake undergoing brain surgery. “Doctors can offer you data and outcomes,” says Peter, “but ultimately you have to trust your gut. We knew DBS was the best thing for Jake; we knew he could handle it.” 

The family also connected with the Bow Foundation, a non-profit organization dedicated to supporting families impacted by GNAO1-related disorder. “Through Bow, we found a community of other parents whose children benefited from DBS,” says Peter. “Their support, encouragement and shared experiences played a meaningful role in our journey.”  

Jake’s surgery was successful. However, an unrelated injury in his scalp developed an infection that spread to the tissue surrounding the device. The device had to be removed and re-implanted once the infection had healed. Since then, Jake has experienced a vast improvement, with minimal movement episodes and no hospitalizations. He’s finally gaining weight and is even weaning off his medications. “It was lifesaving surgery,” says Laura.  

A ‘light in the room’

Now 8, Jake is affectionately called “Iron Man” because of his “bionic” DBS device. Though he still uses a wheelchair and is non-verbal, he understands what he hears and is now learning to use a speech device that enables him to communicate outwardly – and even play games with his family! “He has a unique personality,” says Peter. “He’s very expressive. Everyone who has ever worked with him knows him as a light in the room.” 

Peter and Laura feel that Jake’s experiences have led his siblings, 4-year-old Leo and 12-year-old Zoey, to be highly empathetic. “They’ve grown up recognizing the challenges and unique differences of our family,” says Laura. Zoey now even volunteers at CHOP. 

“CHOP has become a family that supports us,” says Peter. “We know we’ll always be okay because CHOP is right in our backyard.”