After a rough start, Joey is finding his voice

Joey, born with trisomy 14 mosaic and several congenital heart defects, poses in front of kangaroos at the zoo.If you run into Joey Vautour in the grocery store, he’ll probably wave and give you a big “hi!” What you might not realize is that saying “hello” is still a big deal for the happy 4-year-old. Although Joey loves people and is social by nature, speech has not come easily for him.

Shortly after his birth, Joey was diagnosed with trisomy 14 mosaic. This is a rare disorder that causes an extra chromosome on some, but not all, of the body’s cells. Kids born with trisomy 14 mosaic can have a variety of medical problems, which for Joey included three congenital heart defects, serious gastrointestinal defects and a cleft palate. He has also faced a host of physical and developmental delays.

“We live out in western Massachusetts, but when I was pregnant, they discovered he had heart and intestinal defects and we transferred our care to Boston Children’s Hospital,” says his mom, Kerri. Joey has been treated at Boston Children’s since his birth, seeing a wide range of specialists.

After many surgeries, a focus on neurodevelopment

For the first few years of his life, Joey’s clinicians focused on repairing his various birth defects. “By the time he was 3 years old, he’d had eight surgeries, including three open-heart surgeries,” says Kerri. “Now he’s doing really well with all of those issues and we’ve started to focus on his developmental delays.”

Enter the Boston Children’s Hospital Cardiac Neurodevelopmental Program and Dr. Anjali Sadhwani.

Kerri says she and her husband, Matt, first became aware of the Cardiac Neurodevelopmental Program right before Joey was discharged from the hospital, at which time he was given a quick check-up. Shortly after his first birthday, Joey returned to the clinic see Sadhwani for a complete assessment, and he’s seen her yearly since then.

Joey, born with trisomy 14 mosaic and several congenital heart defects, is held by his dad as an infant.

“Dr. Sadhwani’s annual assessment has been invaluable,” says Kerri. “Joey sees a lot of therapists and specialists, which is great, but each person is focused on their own specialty. Dr. Sadhwani was the first person to look at all of his developmental concerns and give us a big picture evaluation of what he needed.”

Assessing skills through play

Although Joey currently uses a wheelchair and says only a couple of words, his doctors believe he will eventually walk and talk, once he builds enough muscle tone. He works with a physical therapist, an occupational therapist, and a speech therapist — both at school and outside of school  — to help him gain these skills. Given his vision challenges, a vision therapist helps ensure he has good visual access to learning materials.

Each time they meet with Sadhwani, she plays with Joey and asks him to do certain tasks to check his cognitive skills, gross and fine motorskills, and language. She also asks Kerri and Matt about his behavior at home.

“Once she’s done, she reviews her observations with us, and writes up a report that covers each aspect of his developmental needs,” says Kerri. The Vautours share this written assessment with each of his providers.

Joey, born with trisomy 14 mosaic and several congenital heart defects, sits on a bench with a pumpkin.

Kerri says the assessments have been especially helpful since Joey started preschool, two years ago. “It’s been great to have her report for our individualized education program (IEP) meetings because we were able to have an overview of all the services he needs as well as Dr. Sadhwani’s specific recommendations for how much of each type of therapy he should have each week. She’s really helped create a comprehensive plan where everyone is working together.”

Learning to sign, loving to sing

Sadhwani also recommended that Joey be seen at the Augmentative Communication Program (ACP) at Boston Children’s Waltham satellite. While Joey is still working on his speech, he’s also found other ways to communicate with the help of Rebecca McCarthy, a speech-language pathologist at ACP.

Joey, born with trisomy 14 mosaic and several congenital heart defects, dressed as a judge from The Voice for Halloween.

“We go to Waltham about twice a year, and they’ve given us a bunch of tools to help him communicate, like an iPad that has a choice board, so he can point at things he wants,” says Kerri. “But so far, he’s responded best to sign language. He only knows a couple of signs, but he’s obsessed with music, so we integrate signs into songs, and we’ve made a lot of progress with that in the last year or two.”

It’s only natural, then, that his favorite TV show is The Voice. “Last Halloween, we converted his modified wheelchair into the chair of a Voice judge and he just loved it,” says Kerri.

Kerri hopes that Joey will continue to develop and find his own voice, with the help of Sadhwani. “I didn’t even know the Cardiac Neurodevelopmental Program existed before we needed it, but it’s been really valuable in many ways we could have never imagined.”

Learn more about the Cardiac Neurodevelopmental Program.