Jesse's story: Seeing beyond the disability helps teen thrive

For the first 12 years of his life, Jesse Simon lived with an undiagnosed genetic disorder that puzzled many doctors. Test after test, his parents, Monica and Phil, of Abington, Penn., were at a loss for an explanation for their son’s nonverbal behaviors, developmental delays and occasional outbursts. At a routine doctor’s visit, a nurse practitioner suspected Jesse might have Angelman syndrome.

 

“We already had Jesse tested for Angelman syndrome and it came back negative. We decided to have him tested for Mowat-Wilson syndrome and Pitt Hopkins syndrome,” said Monica. “The Mowat-Wilson test came back negative and, of course, the Pitt Hopkins test came back positive.”

Jesse, now 15, is one of about 500 individuals in the world diagnosed with Pitt Hopkins syndrome, a rare genetic disorder that affects development, intellect and speech. Children and adults with Pitt Hopkins syndrome are often nonverbal and meet developmental milestones, such as walking or sitting up, much later than others. They also commonly have breathing issues, such as hyperventilation or breath-holding spells, chronic constipation and seizures.

In order to facilitate care and because Pitt Hopkins syndrome is so rare, many families, like the Simons, find they must share their knowledge with providers who have often never heard of the condition. Monica first heard of the Mass General for Children (MGfC) Pitt Hopkins Clinic at a genetics conference in Texas. After a seven-hour drive from Pennsylvania, the difference at MGfC was immediate.

 

“When we arrived at the Pitt Hopkins Clinic, they knew my son. I wasn’t the one educating the doctors on what he had,” said Monica. “They knew his condition and his behaviors, and they understood him.”

Their initial appointment was to address Jesse’s breathing and sleeping issues, but discussions of Jesse’s struggles in his public high school led to a lifechanging consult with Amy Morgan, PhD, a neuropsychologist in the Psychology Assessment Center at MGfC. Jesse found his school environment overwhelming and stressful, prompting him to become frustrated and disengaged. Underneath that, Morgan saw the Jesse that his own family knew and loved, and made helpful suggestions to better unlock Jesse’s potential.

“Jesse is very sweet and social, even though he is nonverbal. People do not always look beyond the disabilities to see the child who is really there,” said Morgan. “He is high-functioning for someone with Pitt Hopkins syndrome. His intelligence and reading scores are higher than what is typically expected, and his receptive language is a particular strength. I could see he was capable of so much more than people give him credit for.”

Since meeting with Morgan, Jesse has transferred to a private school for children and teens with developmental disabilities. He excels in reading and spelling and is deeply engaged in school activities, from classroom work to feeding the horses in the barn or picking apples in the school’s orchard. With support from Morgan, he has also gained better control over his anxiety and stress levels. He works on his communication skills daily with a communication assistive device.

“Since coming to MGfC and enrolling in his new school, Jesse is in much more even space and we are thinking about next steps for him, like where he goes from here as different life stages and events come up,” said Monica. “Jesse is a productive member of a loving community and he is thriving because of it.”