Trisomy 21: Kate’s Story

“Kathleen is incredibly determined,” says her dad, Jerry, who refers to Kate by her formal name. “She works harder than any of my other kids did in school, but she’s willing to put the effort in.”

In the beginning

Kate is the fifth child of Jerry and Robin, from Washington Township, NJ. Robin’s pregnancy and delivery went well. When Kate was born, doctors recognized that their baby girl had features consistent with Down syndrome. Genetic testing confirmed that she had an extra 21st chromosome (three instead of two). Down syndrome (also known at trisomy 21) is the most common genetic syndrome.

Having trisomy 21 increased Kate’s risk of having congenital heart disease, gastrointestinal issues, thyroid conditions, eye and ear problems, and developmental disability.

Although initially taken aback by her diagnosis, Kate’s family quickly shifted their attention to learning as much as possible about how her extra chromosome would affect Kate, and what help she would need to thrive. They turned to Children’s Hospital of Philadelphia (CHOP) for support and answers.

“Our family has a long history at CHOP,” Jerry says. “We’ve been going here since 1991 when my son was born with hypoplastic left heart syndrome.”

Care plan

A multidisciplinary team of CHOP doctors created a customized care plan to address Kate’s medical and developmental needs.

Her heart required the most immediate attention — she had an atrioventricular canal defect, a problem with the part of the heart that connects the upper and lower chambers. Thomas L. Spray, MD, Chief of the Division of Cardiothoracic Surgery, repaired the heart defect during two operations when Kate was a baby. She continues to see Cardiologist Terry M. Anderson, MD, FACC, every six months for checkups.

Over the years, doctors have performed multiple dilations to clear out scar tissue in Kate’s heart, and her father says it’s likely she’ll need a heart valve replacement when she is 21.

“We only go to CHOP doctors,” Jerry says. “Kate’s had a number of other issues — strabismus in her eyes, tubes in her ears, problems with her baby teeth — and CHOP has always been there to help.”

Along with Dr. Anderson, Kate also regularly sees Anthony F. Napoli, MD, a pediatrician at CHOP Primary Care in Gibbsboro, NJ, and Mary Pipan, MD, Director of the Trisomy 21 Program, at CHOP’s Main Campus.

“Whenever I need help, my doctors and nurses are there for me,” Kate says. “They can answer any question.”

Finding her way at home and school

Kate received early intervention services when she was an infant and toddler, but also received real-life lessons at home with her older siblings and parents.

“We treated her like she was no different than any of our other kids,” Jerry says. “She had chores. She had homework. She had to fight to be heard at the dinner table. But I think that made her stronger.”

Kate’s parents — especially her mom — advocated for her to be educated in mainstream classes and to attend Catholic elementary school. It helped that Robin worked at the school and could respond directly when people questioned Kate’s abilities.

Grammar school was a bit rocky, but Kate says she owes her current success in high school to her mom, who passed away almost two years ago.

“My mom knew how to push me and challenge me,” says Kate. “She also fought for me to be treated like the other kids. Without her, I don’t know where I’d be.”

Coming out of her shell

Since starting high school, Kate has flourished — both academically and socially – her father says. Her decision to attend Camden Catholic was important for three reasons: tradition (her older siblings attended Catholic high schools), academics (rigorous coursework) and religion (Kate’s faith is very strong).

Kate attends classes and completes the same work as her peers. In some classes, she has an aide; in others, she does not need one. When a subject is particularly challenging for her — like algebra— Kate asks for help. After tutoring from her older sister, Kate mastered the material.

Kate’s social life is full. In the fall, she’s a cheerleader for the high school football team, and was voted captain of the squad. In the winter, she serves as team manager for the girls’ basketball team; and in the spring, she manages the girls’ lacrosse team. Throughout the year, she’s part of a program that welcomes new students to the school and shows them around.

Last year, the girls’ basketball coach approached Kate with a question: How would she like to be IN the game? “I was so excited; of course, I said yes,” Kate says. “And I scored a basket at the game. It was awesome!” Kate is hoping to repeat the experience this year.

Bright future ahead

While Kate’s primary focus now is completing her senior year, she is beginning to think about her long-term future. “I want to go to The College of New Jersey, live with friends, and work as a teacher's aide and blog on the side,” she says. “I love to write about my personal experiences.”

Her father wants Kate to be “happy, healthy and live a productive life.” He has no doubt she’ll accomplish her goals.

“When Kathleen was born and diagnosed with Down syndrome, I was expecting one thing,” says Jerry. “What I got was something totally different. Kathleen has really opened my eyes — she is truly phenomenal.”