Rudy’s story: Down Syndrome Program helps preschooler hit every milestone in his own time

When he was about 2 years old, Rudy Medina sat across the table from his dad and his speech-language pathologist, Diana Brenner-Miller, MS, CCC-SLP, tapping his chest rhythmically to a song called “What’s Your Name?” With a giggle and a smile, Rudy gives another enthusiastic tap when he hears the line, “I’m Rudy!”

It’s a powerful concept to know your name and proclaim it, even if the words aren’t quite there yet. Rudy, who is now 5 and has Down syndrome, is learning how to expand his communication skills every day through spoken and signed language and assistive communication devices, like an iPad®.

When his mother, Veronica Dyer Medina, was 3 months pregnant, she and her husband, Heyner, learned that their son, Rudy, had Down syndrome. The months leading up to Rudy’s birth were dedicated to learning as much as they could about the diagnosis. Their search led them to the Down Syndrome Program at Mass General for Children (MGfC), directed by medical geneticist Brian Skotko, MD, MPP.

“Dr. Skotko and his team were the first people to say, ‘Congratulations on your baby with Down syndrome!’,” said Veronica, of Chelsea, Mass. “It was refreshing, especially when we were scared. The conversations we’d had before coming to MGfC were filled with doom and gloom, and we felt terrible.”

When families first enroll their children in the Down Syndrome Program, they meet a multidisciplinary team. This can range from specialists in genetics, nutrition, vision care, audiology, social work, resources, and a therapy team, made up of a physical therapist, an occupational therapist, and a speech-language pathologist. This team-based approach allows providers and families to care for the child in a holistic way and establish common goals and expectations.

“I am so grateful that we can offer families so many clinical experts,” said Skotko, who is also the Emma Campbell Endowed Chair on Down Syndrome at Massachusetts General Hospital. “Each of us are better at our jobs because we have each other. The coordination and communication between our providers enhance our service to our patients and their families.”

For children with Down syndrome, it is common for their development to be delayed. While typically developing children start talking in phrases around 18 months, children with Down syndrome may not do the same until much later. In August 2018, Rudy, then 2, started feeding therapy and, later on, speech therapy.

“Initially, Rudy started speech therapy because he was having trouble with feeding and drinking through a straw, which is common in children with Down syndrome for various reasons,” said Brenner-Miller, Rudy’s speech-language pathologist in the Pediatric Speech, Language and Swallowing Disorders Program and the Down Syndrome Program at MGfC. As Rudy learned to feed himself, the focus shifted to improving his communication skills.

“Rudy’s comprehension of language and cognition was an area of strength. He could understand when someone spoke to him and he knew what different words meant,” said Brenner-Miller. “It was a challenge for him to express himself through language, so we worked on sign language, simple spoken words and sounds that Rudy could copy, like animal sounds or car sounds.”

Rudy’s family also speaks English and Spanish at home, so Brenner-Miller, who also speaks Spanish, ensured his speech therapy sessions alternated between English and Spanish language. Since Rudy started preschool, he continues to learn English, Spanish and American Sign Language. Sometimes, he also uses an iPad® to communicate.

In addition to gaining communication skills, Rudy has made incredible gains in his gross motor skills. Because of low muscle tone, it is common for children with Down syndrome to also have delayed motor skills, such as rolling over, crawling, pulling themselves to stand or walking. Physical therapy helps them gain strength and motor skills, and physical therapists help them understand how to plan their movements and move their bodies effectively and efficiently.

Rudy – a fiercely independent boy – learned to do just that with help from his family and Joy Bress, PT, a physical therapist in Pediatric Physical Therapy and the Down Syndrome Program at MGfC. Since starting physical therapy, Rudy has learned how to walk with braces and is working on his running and jumping skills.

“I first met Rudy when he was 8 months old, along with the rest of the therapy team in the Down Syndrome Program. His family was always motivated for him to walk or stand, but he wanted to do it on his own and in a way that was comfortable for him,” said Bress, who assesses Rudy’s progress every six months. “Once he felt comfortable, he took off. Rudy comes from a supportive family who is always seeking out what’s best for him. They are his best advocates.”

Since coming to the Down Syndrome Program, the Medinas have felt cared for and supported. “Dr. Skotko and his team have been part of my journey in every way,” said Veronica, who helps other Spanish speakers in her community learn more about Down syndrome by hosting monthly Zoom® calls in which she shares information about Down syndrome and her experiences with a child with that condition.

“He will tell me what to expect with Rudy and then it’ll happen,” she said. “l’ll say to myself, ‘I remember Brian telling me that.’ We are so lucky to have him and the rest of the team.”

Photos courtesy of the Dyer Medina family.