In the spring of 2011, Ronald Thibert, DO, received an unexpected call. A 5-year-old boy in Virginia with a complex genetic condition was having several dozen seizures a day. His family didn’t know whether he would make it to his sixth birthday. Dr. Thibert, director of the Dup15q Clinic at Mass General for Children (MGfC), responded immediately: “If they can get up to Boston, I think I can help them.”
John Peters (JP) was born a happy and healthy baby, adored by his parents, Gina and Jack, and older siblings, Sam and Madeline. But by the time he was six months old, Gina realized JP wasn’t reaching developmental milestones. At an appointment, one of his physical therapists was the first to recognize that he was having seizures.
JP was diagnosed with Duplication15q Syndrome, a genetic condition caused by the duplication of a section of chromosome 15. Children diagnosed with this condition frequently present as autistic, and more than 50 percent suffer from various levels of seizure disorders.
By age 5, JP was having dozens of seizures a day. Clinicians in Virginia had no experience treating the rare genetic condition. Despite tireless research and countless appointments, Gina and Jack watched helplessly as their son was held captive in his own body. JP’s seizure activity significantly impacted his development and he was unable to communicate with the world around him. Gina and Jack knew their son was in there, and just wanted to get him back.
Within weeks of learning about Dr. Thibert, the Peters family was on their way to Boston. The introduction to Dr. Thibert and the Dup15q Center offered the family “a feeling of hope at the point when we weren’t sure what the next turn was,” Jack says.
At that first meeting, JP’s dad held one arm around JP’s waist, and his hand under JP’s chin to keep his head up. He could not sit independently and his eyes were glazed over. During his first 24 hours under observation at MGfC, JP had more than 100 seizures.
Rather than adding or subtracting from the numerous seizure medications that JP was on, Dr. Thibert and the team in the Dup15q Clinic recommended altering JP’s diet to treat his seizures. JP was placed on a high fat, low carbohydrate diet known as the ketogenic diet. Mass General was one of the first institutions to use the ketogenic diet to treat seizures in the early 1900s.
MGfC is currently home to the largest Dup15q Clinic in the country, and over the past five years has seen more than 100 families dealing with the genetic diagnosis. The specialty clinic’s multidisciplinary approach allows dieticians, gastroenterologists, nephrologists, neurologists, psychiatrists, neuropsychologists and geneticists/genetic counselors to coordinate care for each patient and their family. The clinic’s access to a large population of children with the rare disorder also enables them to conduct groundbreaking research into the syndrome’s patterns and successful treatments.
Gina and Jack were impressed with the family-centered care offered at MGfC. “We were seen as an integral part of the team, completely different from any experience we had locally,” Gina recalls.
“We had never even worked with a doctor who specialized in Dup15 before.”
Within days of starting the ketogenic diet, Dr. Thibert began to see a break in JP’s seizure pattern. His seizure occurrence began to decrease from once every 2-3 minutes to 5-7 minutes. By the four month mark, JP was having just a few seizures a day and was beginning to stand with support and make eye contact with his family.
The improvements only continued from there. With his seizures under control, JP began to make significant developmental strides, including learning how to walk with minimal support. Another priority for the Peters family was helping JP “find his voice.” With the assistance of an iPad communication device, JP has learned to communicate his wants, needs and thoughts with his family. “It’s been amazing to see how much is in there, how much he’s aware of, and what he wants to say,” Jack says.
While JP’s journey has been full of accomplishments his family could have never imagined five years ago, there have been setbacks as well. The ketogenic diet can cause gastrointestinal complications and he has had periods of breakthrough seizures. But the Peters family finds comfort in knowing where to turn. “If there wasn’t a Dr. Thibert for us to take JP to, I honestly don’t know that JP would be here today,” Gina says.
She also credits the entire staff in the Dup15q Clinic at MGfC for their compassionate care. “As a parent, I can’t put into words how important it is to have a place that cares about your child and their condition,” Gina says. “MGfC has given us hope.”