Ty Puente is a gadget guy. From air conditioners to fire alarms to washing machines, you name it and he knows all about it. The talkative 9-year-old’s knowledge could rival that of any appliance repair expert, but just a few years earlier, Ty barely spoke a word.
For the first few years of Ty’s life, his parents, Destiny and Andrew, from Chicago, weren’t sure why their son wasn’t talking. In 2012, at age 2, Ty was diagnosed with autism spectrum disorder (ASD). Two years later, Ty was diagnosed with Myhre syndrome, a rare genetic condition characterized by short stature (short height for a person’s age), intellectual disability, social and learning challenges and problems with the heart, airways or joints. People with Myhre syndrome also have unique facial features, such as small eyes, a small mouth or a prominent chin.
The Puentes knew their son needed care from a multitude of specialists, but weren’t sure where to start. Their search led them to the Myhre Syndrome Clinic at MassGeneral Hospital for Children (MGHfC) and Massachusetts General Hospital.
The Myhre Syndrome Clinic provides compassionate, multidisciplinary specialty care specific to the needs of patients with Myhre syndrome and their families. Providers take a collaborative approach to care, tuning into each patient’s individual needs, concerns and goals and coordinating care with the patient’s primary care doctors back home. Providers across the hospital try their best to see patients over 1-2 days, which is convenient for families who come from near and far.
“Our role is not to provide care as a top-down approach, doctor to patient, but to work together as partners. I feel we’ve fulfilled this mission with team-based care,” said Angela Lin, MD, Co-Director of the Myhre Syndrome Clinic. “The Puentes took full advantage of that by coordinating specialty care here and back home in Chicago. Most of the families who visit the Myhre Syndrome Clinic have a relentlessly upbeat spirit to do the best they can, and the Puentes fit that perfectly.”
For the Puentes, it was also a relief to get answers from experts on their son’s condition. It is not uncommon for doctors to be unfamiliar with Myhre syndrome, given its rarity and complexity. “We received nothing but the best care and it’s never just a quick appointment. Everything is thorough and personal,” said Destiny. “Not many doctors know about Myhre syndrome, but at MGHfC, there is a personal touch to everything. They understand Ty in a way that many others didn’t.”
One of Ty’s main concerns was trouble sleeping through the night. This is common in people with both ASD and Myhre syndrome, and it was affecting Ty’s life at school and at home.
“Our main focus is to optimize how children do in school and we do that by improving their sleep. When you address that, life tends to fall into place and it restores normalcy for families,” said T. Bernard Kinane, MD, chief of Pediatric Pulmonary Medicine at MGHfC. “Patients with Myhre syndrome tend to have obstructive sleep apnea and lung disease, as well as smaller mouths, which can contribute to sleep apnea. Secondly, people with autism tend to get just 6-7 hours of sleep a night and then they’re up for the day, which can be disruptive for families.”
Tests revealed that Ty had sleep apnea. “For concerns in patients with Myhre syndrome, like Ty, it’s a matter of understanding where they’re at,” said Kinane. “We can do that because we meet as a team to get a full understanding of every patient.”
Ty is now in fourth grade and attends regular classes with an aide. By his side is his trusty service dog, a black and white Goldendoodle named Splash. The four-legged furry friend provides comfort for Ty and helps him with social skills.
“Ty is healthy now, but we don’t know what will happen in the future,” said Destiny. “Now that we have answers, we feel more confident as a family and Ty has flourished. He now knows how to tell us what he does and doesn’t want to do and how to advocate for himself in school.”