For the first 12 years of his life, Jesse Simon lived with an undiagnosed genetic disorder that puzzled many doctors. After several tests, his parents – Monica and Phil, of Abington, Pennsylvania – were at a loss for an explanation for their son’s nonverbal behaviors, developmental delays and occasional outbursts. After some time, Jesse tested positive for Pitt Hopkins syndrome.
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.
Monica first heard of the Mass General for Children (MGfC) Pitt Hopkins Clinic at a genetics conference in Texas. To better facilitate his care, they made the seven-hour drive from Pennsylvania. The difference at MGfC was immediate, she says.
“When we arrived at the Pitt Hopkins Clinic, they knew my son,” says Monica. “I wasn’t the one educating the doctors on what he had. They knew his condition and his behaviors, and they understood him.”
Their initial appointment addressed Jesse’s breathing and sleeping issues, but discussions of Jesse’s struggles in his public high school led to what Monica says was a lifechanging consult with Amy Morgan, PhD, neuropsychologist in the MGfC Psychology Assessment Center. Jesse found his school environment overwhelming and stressful, prompting him to become frustrated and disengaged. Morgan made 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,” says Morgan. “He is high-functioning for someone with Pitt Hopkins syndrome. 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 also has 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 a 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,” says Monica. “Jesse is a productive member of a loving community and he is thriving because of it.”