Thriving With Down Syndrome: Emilio's Story

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There’s not much that can contain the walking, talking, smiling and hugging whirlwind known as Emilio. At 6½ years old, this sweet and perpetually grinning kindergartener is the de-facto mayor at his school: Everyone knows his name.

Emilio “This has been a breakthrough year for Emilio,” says his mom, Lori. “He’s learned to write his name and count to 10, and he’s drawing some really neat pictures at school.”

Emilio was born with Down syndrome (trisomy 21) and cleft lip and palate, and his speech has also transformed this year. Instead of rushing to speak and then garbling his words, Emilio had an extra incentive to slow down and speak clearly — he wanted to talk to his new friends. And they’ve taught him fun new phrases like, “no way, Jose.”

Another triumph for Emilio came in October 2018 when he was named a champion for the Children’s Hospital of Philadelphia (CHOP) Buddy Walk® and Family Fun Day. CHOP Buddy Walk® celebrates children and adults with Down syndrome and raises important funds to support the Trisomy 21 Program at CHOP year-round.

“It is truly a special event and there is such camaraderie among the families who participate,” Lori says. “It’s also a great way to show Emilio that he’s not alone, that there are other kids like him — and that they can be successful and happy as adults.”

Surgery and continuing support at CHOP

Emilio has had his share of health issues since birth. Along with surgery to repair his cleft lip and palate, Emilio also had his tonsils and adenoids removed to improve his sleep apnea, and he takes medication for hypothyroidism and wears glasses. Through it all, Children’s Hospital of Philadelphia has been by his side.

“We’ve had amazing support from CHOP,” Lori says. “Anytime we’ve had a concern, they’ve been there for us and helped us get Emilio the services he needed.”

Mary Pipan, MD, Director of the Trisomy 21 Program, made sure Emilio received all the recommended preventative screenings for children with Down syndrome at the appropriate ages. The goal of these screenings is to identify potential health risks early and provide treatment as needed. Emilio also benefited from county-provided early intervention services — such as physical, occupational and speech therapy — to improve his early developmental skills.

The Trisomy 21 Program continues to oversee Emilio’s care and ongoing monitoring from specialists in plastic surgery, endocrinology, pulmonology, ophthalmology, ear, nose and throat, and others.

Life with Emilio today

Life with Emilio is never boring, Lori says. A wiry and active boy, he enjoys going to the playground, eats everything in sight, and is obsessed with Halloween.

“He loves the Ghostbusters song and will play it over and over and over on YouTube,” Lori says. “And every week when his class goes to the library, he finds a new Halloween book to bring home for us to read. Even the librarian is curious about how he finds them all.”

Emilio loves Minions, Teenage Mutant Ninja Turtles and superheroes. In fact, he says, when he grows up he wants to be a superhero because he’s “strong and wants to fly.”

Life goal: independence

As Lori looks ahead to Emilio’s future as an adult, she finds encouragement and hope from the team at CHOP’s Trisomy 21 Program and from a strong Down syndrome support group in Montgomery County.

“There are so many more opportunities for kids with Down syndrome today compared to 40 years ago,” Lori says. “As a parent, I want Emilio to be as independent as possible.”

To accomplish that long-term goal, Emilio’s parents enrolled him in public school, where he can interact with typically developing children as well as children, like him, who need a little extra help. Emilio attends classes with his peers and receives additional support services as needed.

“Later, we hope he’ll get vocational training or attend college so he can find a career he enjoys and contribute to society,” Lori says. “Emilio is a very determined boy. I have no doubt he will succeed.”

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