A diagnosis of Down syndrome motivates a family to go the extra mile

Mae, who has Down syndrome, sits on the bottom of a slide. As she leaves nursery school at the end of each day, Mae Tapley blows kisses to every person she passes on her way to the door. For her mother, Susie, watching teachers and staff step out into the hall to wave to her daughter is a welcome change. Three years ago, when Mae was born with Down syndrome, it seemed like no one knew what to say to her.

“When you have a typical child, people tell you how beautiful they are,” says Susie. “With Mae, no one told us she was beautiful or that she would have a full life until we came to Boston Children’s Hospital. They believed in her from the first day.”

Repairing Mae’s heart

Susie and Andrew Tapley were living with their 2-year old son, Drew, in Washington D.C. when Mae was born with Down syndrome, a genetic condition associated with developmental delays and intellectual disability. The months following Mae’s birth were a blur of meetings with specialists, recommendations and second opinions. When Mae was 3 weeks old, the family visited the Down Syndrome Program at Boston Children’s. During that visit, they met with Dr. Wayne Tworetzky of the Fetal Cardiology Program.

“He sat with us and explained Mae’s heart issues,” says Susie, who grew up in Boston. Like nearly half of newborns with Down syndrome, Mae was born with heart defects. Tworetzky explained that Mae had a hole in the wall separating the right and the left chambers of her heart, a condition known as a ventricular septal defect (VSD). She also had pulmonary hypertension.

“I was in shock,” recalls Susie. “Dr. Tworetzky must have seen that because he said, ‘Why don’t you go out and get some fresh air? When you’re ready, page me and we can talk some more.’” Later that afternoon, as they left Tworetzky’s office for the second time, Andrew told Susie, “We have to have the surgery done here.” That summer, the Tapleys relocated to Boston to be closer to Susie’s family and the team they now credit with saving their daughter’s life.

In October 2015, when Mae was 5 months old, she was admitted to Boston Children’s. In two separate surgeries, Dr. Sitaram Emani repaired the hole in Mae’s heart and implanted a pacemaker. Once Mae’s heart was stable and functioning, Susie and Andrew had time to focus on other aspects of their daughter’s future.

Mae, who has Down syndrome, poses with Dr. Sitaram Emani at a recent visit
Mae checks in with Emani three years after the surgery that repaired her heart

Raise the bar

Dr. Emily Davidson of the Down Syndrome Program at Boston Children’s has been Mae’s doctor since she was 4 weeks old. “Our first meeting with Emily lasted two hours,” remembers Susie. Davidson went over every aspect of Mae’s development in a conversation that proved to be an important turning point. “She told us to believe in Mae’s ability. She told us to raise the bar,” says Susie. “That affected everything.”

Heeding Davidson’s advice, the Tapleys have consistently set their sights on Mae’s next developmental milestone. Mae started walking by the time she was 2 years old. Now 3, Mae insists on putting on her own jacket and backpack at the end of each school day, then sets off on her daily promenade down the hall. At home, she participates in her family’s jokes using a combination of sign language and the 15 or so words she can speak so far. “No matter what I ask of her, she does it. It may not follow the timeline I have in mind, but she does it,” says Susie.

The Down Syndrome Program at Boston Children’s has become a second home for Mae. On a recent visit, she helped Davidson make photocopies and brought them out to the waiting area to show to other families. “Mae loves it here. Every time we come here, she puts on a little show. She innately knows this is a welcoming place.”

Mae, who has Down syndrome, looking over her shoulder with photocopied pages in her hand
Mae heads out to the waiting area to show off the photocopies she made with Davidson

More resources for families

Even as she struggled to come to terms with her daughter’s condition, Susie realized she was lucky. She had a supportive family and the resources to purchase whatever tools Mae needed to grow and thrive. “I wanted other families to have that experience too,” she says. “If a clinician recommended a piece of equipment or special learning tool, I didn’t want financial or logistic burdens to prevent parents from being able to provide those for their child.”

Susie’s desire to help evolved into Mae’s Market, now part of the Down Syndrome Program, which provides developmental and educational tools for children with the condition. No matter if a family needs a child-sized walker, special sippy cup or books tailored to their child’s reading ability, parents can pick up the recommended items at the hospital, free of charge.

To underwrite the costs, Susie created a team to participate in the Eversource Walk for Boston Children’s Hospital. For the past three years, the Miles for Mae team has grown in size and fundraising capacity. Seventy people walked with the team in 2018, raising over $120,000 to benefit children and families in the Down Syndrome Program and set a new fundraising record in the walk’s history.

Members of the Miles for Mae Team pose after walking to raise money for Down syndrome
The Tapleys and other members of the Miles for Mae team at the 2018 Eversource Walk for Boston Children’s Hospital

In Susie’s view, Mae’s Market, which started operations this spring, raises the bar for all children with Down syndrome. “It has a ripple effect. If kids with Down syndrome are doing better, if they’re meeting developmental milestones and learning how to read, it changes perceptions in the world at large of what a child with Down syndrome can do.”

Learn more about the Down Syndrome Program.