Published on in Trisomy 21 Update
Every day is a new adventure for Aidan. The chubby 1-year-old embraces each new challenge with a twinkle in his bright blue eyes and a big smile on his face.
His breakthroughs are small but meaningful to his tight-knit family: waving goodbye, playing peekaboo, shoving Cheerios into his mouth, rolling after his 3-year-old brother Ryan, and singing himself to sleep at night.
“He’s such a happy baby,” says his mom, Meghan. “He’s curious and cuddly and silly. He loves kisses and pulling hair, and is trying really hard to crawl. I can’t wait to see what he discovers next.”
A search for answers
It was the night before Thanksgiving in 2016 when Meghan and her husband, Blake, received the results of a routine prenatal screening test. They were having a boy … and he had a 99 percent chance of having Down syndrome, the most common chromosomal anomaly.
A follow-up test confirmed the diagnosis, also known as trisomy 21. The genetic disorder, created by three chromosomes at position 21 instead of the usual pair, can cause intellectual disabilities and health issues.
“We were shocked, devastated and scared,” Meghan says. “We didn’t know what his future would look like — or what our family’s future would be.”
Meghan and Blake sought out information about Down syndrome, including possible complications from the disorder, and looked for resources that could support them and their child.
Almost everywhere they turned for help, they found encouraging news. Their pediatrician told them what to expect medically, gave them examples of what individuals with Down syndrome had accomplished, and connected them with the Trisomy 21 Program at Children’s Hospital of Philadelphia (CHOP).
They also spoke with Tricia D. Wilson, RN, nurse coordinator of the Trisomy 21 Program, who shared her personal experience of having a child with Down syndrome.
“Tricia was so reassuring,” Meghan says. “Life for her family wasn’t all that different or scary. In fact, she said their lives were richer because they had a child with Down syndrome.”
Meghan and Blake also received good news mid-way through the pregnancy: Their baby did not have a heart problem. Cardiac issues are common in children with Down syndrome and many need surgery within the first year of life.
“We were just so excited to meet him, to celebrate him, and to expand our family,” Meghan says.
Early intervention and support
Aidan was born on June 2, 2017. As an infant, he began receiving Early Intervention services from Chester County to help develop his communication, motor and play skills.
When Aidan was about a month old, he received support from the Feeding and Swallowing Outpatient Clinic at CHOP. “He had low muscle tone and his endurance was low,” Meghan explains. “He was falling asleep before getting enough milk in his belly.”
Aidan was 5 months old when he met the Trisomy 21 Program team who would develop a care plan to help him develop to his fullest potential. Aidan’s care team includes Alison H. Downes, MD, a developmental pediatrician; Wilson; Audrey Vincent, MSW, LSW, a social worker; as well as a physical therapist, occupational therapist and speech therapist.
At the recommendation of the Trisomy 21 team, Aidan completed several screening tests. He has been cleared by a cardiologist, has seen an eye doctor, and has been evaluated by audiology twice.
“The team was initially concerned that he was slow to gain weight, but now he’s a chunky monkey,” Meghan says with a laugh.
Aidan was only a few months old when his family learned about the 2017 CHOP Buddy Walk® and Family Fun Day. They thought it would be a great way to build awareness of Down syndrome and help the Trisomy 21 Program, which will be supporting Aidan for years to come. Meghan and Blake formed a team and invited friends and family to join them for the event.
“It was just a beautiful day,” Meghan says. “It was a day filled with hope for us — hope that Aidan would be accepted by others and hope that he’d be able to one day do the things these other kids could do — running, talking, laughing, enjoying life. It was so inspiring to see children and adults with Down syndrome accomplishing their goals.”
In 2019, Aidan's family expanded their participation in the CHOP Buddy Walk, inspiring more support from around the country.
“Aidan has brought so much joy to our lives,” Meghan says. “I want to celebrate him and celebrate his uniqueness. I want him to appreciate his differences and to forge his own path and his own future.”
Categories: Trisomy 21