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 up to 60 seizures a day. His family didn’t know whether he would make it to his sixth birthday. Dr. Thibert, director of the Dup15q Center at MassGeneral Hospital for Children (MGHfC), responded immediately: “If they can get up to Boston, I think I can help them.”
Duplication15q Syndrome, or Dup15q, is a genetic condition caused by the duplication of a section of chromosome 15. Children diagnosed with it frequently present as autistic or nonverbal. More than 50 percent of them suffer from seizure disorders.
Mass General is known worldwide as an institution with the expertise and determination to take on rare and complex conditions like Dup15q. And as the family of the little boy from Virginia soon discovered, that reputation is coupled with care that reaches far beyond the clinician’s office.
The Dup15q Diagnosis
John Peters, who his family calls JP, was born a happy and healthy baby. He was 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 like rolling over or holding his head up.
“I also noticed he wasn’t smiling,” Gina recalls of JP’s early months. “It was like he couldn’t see me — I thought something was happening with his vision. But it was intermittent, not all the time.”
To address JP’s developmental delays, Gina made an appointment for him to be evaluated by a local physical therapist. While at the appointment, JP had one of the “staring episodes” that Gina thought was an issue with his vision. The physical therapist recognized it as a seizure.
Captive in his Own Body
“I thought, okay, this is a whole new ballgame,” Gina recalls.
After being seen by a neurologist, JP was diagnosed with Dup15q.
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 seizures significantly impacted his development and his ability 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 that Dr. Thibert might be able to help them, the Peters family was on their way to Boston. The introduction to the Dup15q Center offered the family “a feeling of hope at the point when we weren’t sure what the next turn was,” Jack recalls.
At that first appointment, Jack held one arm around JP’s waist, and his hand under JP’s chin to keep his head up. JP could not sit independently and his eyes were glazed over. During his first 24 hours under observation at MGHfC, JP had more than 100 seizures.
At the time, JP was on four seizure medications, and had been on a total of seven different medications throughout his life, all with debilitating side effects. Rather than adding or subtracting from those medications, Dr. Thibert and dietitian Heidi Pfeifer, RD, LDN, recommended adding dietary therapy as a way to treat JP’s seizures.
A Multidisciplinary Approach
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. One-third of patients placed on a ketogenic diet see a 90-100% reduction in seizure activity. Unfortunately, the diet is typically only offered at large medical centers that have the ability to work closely with experts in gastroenterology and nephrology to ensure it is used safely.
MGHfC is home to the largest Dup15q center in the country. Over the past five years, it 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 Dup15q 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 MGHfC. “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 decreased from once every 2-3 minutes to 5-7 minutes. The family returned home to Virginia but kept in close contact with the clinic team. 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. Three years after implementing the new diet, Dr. Thibert was on a check-in call with Gina when she told him that JP was starting to walk.
“I didn’t quite believe he was walking yet,” Dr. Thibert recalls. “So I asked her to send us a video. We all gathered around my computer to watch. JP came out of the house holding hands with an aid to mail a letter in the mailbox. As he walked out to the mailbox, he had a huge smile on his face and you knew he knew what he was doing. It was amazing to watch.”
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. In fact, last year JP communicated via his iPad that he wanted to dress up as Dr. Thibert for Halloween.
Knowing Where to Turn
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. And in the summer of 2016, JP’s seizures unexpectedly returned.
Within weeks he was admitted to MGHfC for observation and together his multidisciplinary team reviewed his diet, sleep patterns and gastrointestinal issues to determine the cause and adjust his diet accordingly.
During these difficult times, the Peters family has found 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. “MGHfC has given us hope.”
JP and his family have had a lasting effect on Dr. Thibert and his staff in the Dup15q Center as well. “I’ve been at Mass General for 10 years and have seen more than 1,000 patients with seizures,” Dr. Thibert says. “Out of those patients, JP is one that stands out — for how tough he is, how far he’s had to come, how well he’s done and how happy he is. It’s been amazing to be a part of.”