After Massimo was diagnosed with autism spectrum disorder, his family searched for answers that might better explain his condition, what caused it and what treatments may help him live his best possible life. They found an autism research study at Children's Hospital of Philadelphia (CHOP) and were able to secure a spot in the trial. What came next surprised them — and made them even more grateful to CHOP.
Investigators at CHOP’s Center for Autism Research were using magnetoencephalography (MEG scan), a newer, painless imaging technique to measure the electrical activity in the brains of children with autism. Massi’s MEG scan revealed something no one expected: the 6-year-old had been having seizures.
He was immediately referred to Alyssa R. Rosen, MD, a pediatric neurologist at CHOP and a clinician in CHOP’s Autism Integrated Care program. Further testing, including an electroencephalogram (EEG) and sleep study, confirmed Massi had a benign rolandic seizure disorder, a type of epileptic syndrome that affects children.
“We never saw Massi have a seizure — but the test did,” says his mom, Alexa D’Amato Barrera. “We never would have even known about the disorder, or been able to treat it, if it wasn’t for our participation in this study by the Center for Autism Research.”
Early hints of autism
Even when Massi was a baby, Alexa knew there was something different about him. He wasn’t babbling and interacting with the family in the same ways his older brother had. At age 1, Massi still didn’t respond to his name, couldn’t maintain eye contact and wasn’t talking at all.
The pediatrician diagnosed Massi with developmental delays, but cautioned something more serious may be causing his issues. She encouraged the family to apply for early intervention services and schedule an assessment with the Autism Integrated Care Program at CHOP.
Early intervention services began first, but because Massi’s only formal diagnosis was developmental delays, he received treatment only one hour, once a week. It wasn’t enough; he wasn’t making any progress.
Support comes after autism diagnosis
Massi was 17 months old, when he and his family met with Susan E. Levy, MD, MPH, director of the Autism Integrated Care Program. After tests and evaluations, Dr. Levy delivered the news: Massi had autism.
“That was the best day and the worst day for us,” Alexa says. “Worst because it confirmed our fears, but best because knowing what was going on with him — getting that formal diagnosis — opened up so many resources for us to help him."
Massi began intensive occupational, speech and applied behavior analysis therapy. Early intervention services from the county increased to two to three hours a day, three days a week. With the extra help and consistent support, Massi began to connect.
“He started to make eye contact, to hear what we were saying and understand what we wanted him to do,” Alexa says. “His speech was still delayed — in fact, we didn’t know if he’d ever speak – but he began to communicate with us nonverbally.”
Soon after, his vocabulary began to develop.
Treating the child, not the condition
As Massi grew, his family continued to rely on Dr. Levy for autism support. Massi also received care from other specialists at Children’s Hospital. For example, Massi’s snoring led to evaluations by ear, nose and throat specialists, sleep medicine and neurology. He was also treated at the Healthy Weight Clinic, where he learned to control his urge to overeat and learned portion control.
Massi also began participating in studies by the Center for Autism Research. His family hoped that by better understanding autism and what causes it, researchers could develop new treatments and improve outcomes for children with the disorder.
“So much is still unknown about this disorder,” Alexa says. When researchers discovered Massi was having seizures, his family was happy he was quickly connected with neurologists who could begin treatment right away.
After years of seizures and extensive neurologic follow-up care, Massi’s family received good news in January 2018: After a 24-hour video EEG, all seizure activity was gone. He’d grown out of the condition.
Learning to give back
Massi has grown into a loving, empathetic and funny 8-year-old. He’s at the top of his 2nd grade class in math and is reading on his own. He loves word games, basketball, chess, playing guitar, pointing out idioms and homophones, and telling poop jokes. He no longer needs therapy of any kind.
“He’s a success story,” Alexa says. “Had it not been for Dr. Levy saying ‘I know he’s young but he’s clearly got autism,’ we wouldn’t have gotten the services to help him grow and develop.”
To thank CHOP — and help fuel tomorrow’s breakthroughs in autism research — Massi’s family is participating in the Eagles Autism Challenge on May 19, 2018.
The one-day bike ride and family-friendly 5k run/walk will raise funds for a unique collaboration between CHOP, Drexel University, Thomas Jefferson University and Jefferson Health to address the complex medical and scientific issues related to autism.