At 2 years old, Grace is already a big fan of music. Her all-time favorite song is one her father wrote and plays on his guitar called “Gracie Goes to College.”
The bouncy tune is set to a toddler-friendly rhythm and includes playful motions to act out during the song. Though simple and repetitive, the song sends Grace a strong message — even at her young age — about all she can accomplish despite her condition.
Grace was born with Down syndrome, also known as trisomy 21, the most common chromosomal anomaly in the world. The genetic disorder, caused by an extra chromosome, can cause intellectual disabilities and a range of health issues.
“There’s this misconception that people who have Down syndrome are going to stay in an infantile-toddler stage,” says Grace’s mother, Meredith. “But she’s like any other kid. We just have to work a little harder to get to developmental milestones.”
A diagnosis and next steps
Grace was diagnosed with Down syndrome before birth during a routine prenatal screening test. Meredith’s perinatologist warned Meredith and her husband, Joseph, about the multitude of health issues that can accompany a Down syndrome diagnosis. But Meredith and Joseph were already well-informed about Down syndrome. Not only do they have a teen nephew with trisomy 21, they both are medical professionals: Meredith is a nurse, Joseph is a doctor.
At first, Meredith and Joseph’s extended family was anxious. They remembered the medical issues the nephew had faced when he was younger and worried the new baby may have similar issues. The couple sought answers and guidance from Pediatrician Gerald E. Vekteris, DO, FAAP, at CHOP Primary Care, Harborview/Somers Point, near their home in New Jersey. They wanted to prepare the best they could for their child.
Dr. Vekteris connected the family with Trisomy 21 Program at Children’s Hospital of Philadelphia (CHOP). After meeting with the Trisomy 21 Program team, Meredith says she and Joseph felt reassured and comfortable with the coordinated, multidisciplinary approach to care provided by the T21 team.
The team’s first piece of good news came before baby Grace was even born: Their baby did not have a congenital heart defect, one of the most common issues affecting babies with Down syndrome. A fetal echocardiogram, performed by the Fetal Heart Team at CHOP, showed no structural differences in her heart.
“It’s a great day when the doctor looks at you and says, ‘That is the most boring echocardiogram I’ve ever done,’” Meredith recalls with a laugh.
Just one part of their lives
As Meredith’s due date neared, she gained perspective on her baby’s diagnosis by paying attention to the ways her friends dealt with their own children’s health issues. They considered their kids’ health just one aspect of their lives, never the defining one. They decided to adopt a similar outlook for their daughter.
“She shouldn’t be defined by an extra chromosome,” Meredith says. “We can incorporate this into our lives; it will be part of our lives, but it won’t be the central part of our lives.”
Grace has been relatively healthy since she was born in 2017. She breastfed from the beginning, with her parents supplementing her diet with formula when she grew tired. Babies with Down syndrome often have feeding issues due to poor muscle tone.
In addition, Grace has had a few health issues, such as chronic constipation and atlantoaxial instability, a cervical spine disorder, but both are being addressed by her developmental pediatrician Allison H. Downes, MD, and the rest of the Trisomy 21 Program team.
A happy, friendly little girl
Today, Grace is a happy, friendly little girl. She’s reaching developmental milestones — but on her own timetable. At 2 years old, Grace recently learned how to walk – and is now running. Adds Meredith, “Once she gets confident in a milestone, off she goes!”
Grace isn’t speaking yet, but her parents have taught her to communicate using some sign language. Meredith jokes that Grace has picked up sign language faster than she has herself. “She starts doing signs, and I’m trying to remember what the sign is for,” she says.
Grace’s easy-going, friendly nature makes her a joy to be around. She loves to swim, play with balls and care for her baby dolls. Her favorite book is Disney Bunnies Thumper Goes a-Thumpin’ and requires her to use pull-tabs to make the bunny thump his foot.
The family is looking forward to the 2019 Buddy Walk & Family Fun Day in October and the opportunity to support life-changing care, treatment, education and research for individuals with Down syndrome at Children’s Hospital of Philadelphia. Participating in the fun annual event is another way the family says it can raise awareness of Down syndrome.
For her part, Grace does that every time she waves to someone in the grocery store or prompts a smile from a stranger. And if Grace goes to college like her dad’s song says, she’ll be continuing that important work.
“My goal for Grace is for people to see her as a child first before they see her differences or the extra chromosome,” Meredith says. “She has great potential, and I want her to do whatever makes her happy.”