Down Syndrome and Heart Disease: Regan’s Story

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There’s no disguising the powerful connection between Megan Vowler and her 18-month-old daughter, Regan. When one smiles, the other smiles. When one laughs, the other laughs. And when Megan asks a question, Regan gurgles a happy reply or uses sign language to respond.

Regan The pair — along with Mitch, Megan’s husband and Regan’s dad — have been through a lot in the past two years, and more challenges may lie ahead. Regan was born with Down syndrome and a congenital heart defect, and received support and surgery at Children’s Hospital of Philadelphia (CHOP).

Today, the bubbly toddler who loves music, pushing buttons and chasing balls around the house has a bright future — thanks to the breakthrough care she’s received at CHOP. Regan was recently named a champion for the 2018 CHOP Buddy Walk® and Family Fun Day, an annual event that celebrates and supports individuals with Down syndrome.

“Regan has changed my life and given me the gift of patience,” Megan says. “I’ve learned she’s going to do things on her own schedule. I’m here as her cheerleader and supporter.”

Troubling prenatal diagnosis

In May 2016, Megan and Mitch were overjoyed when they found out they were expecting their first child. The first half of the pregnancy flew by easily.

At around 16-weeks gestation, however, things changed. A non-invasive prenatal test (NIPT) indicated the baby likely had Down syndrome, a common chromosomal anomaly that causes intellectual disabilities and other health issues.

Follow-up testing confirmed the diagnosis, also known as trisomy 21, and revealed another problem: the unborn baby had a serious heart condition and would need specialized care before, during and after birth. This prompted the family to travel from their home in Sugarloaf, PA, to meet with the team at CHOP.

“We had never experienced such a well-integrated team,” Megan says. “They took care of us like family.”

The couple met with clinicians from the Fetal Heart Program, Trisomy 21 Program, and the Garbose Family Special Delivery Unit (SDU). Experts confirmed the baby’s atrioventricular (AV) canal defect and genetic difference but determined neither required prenatal intervention.

Clinicians said the baby would likely need heart surgery soon after birth and recommended that Megan deliver in CHOP’s SDU, the first birthing facility in a children’s hospital specifically designed for mothers delivering babies with known birth defects. The couple agreed, and a planned delivery was scheduled.

However, baby Regan had other plans.

Rush delivery

“I went into labor early, and we drove to CHOP in the middle of the night. It was crazy,” Megan says. “Thankfully, we made it there in time and everyone was ready for us. My delivery nurse focused on making me comfortable while the delivery team focused on making sure Regan was OK and everything would go smoothly.”

Bridget “Regan” Vowler was born on Dec. 5, 2016, and Megan got to hold her daughter before the baby was transferred to the hospital’s Harriet and Ronald Lassin Newborn/Infant Intensive Care Unit (N/IICU).

“The CHOP team was so helpful and informative,” Megan says. “I felt very prepared for her birth and her hospital stay.”

Regan had a little jaundice during her first days, and clinicians actively monitored her heart and weight. She had a few episodes of supraventricular tachycardia (SVT), a very fast heart rate, and eating by mouth seemed to put added stress on her heart. A nasogastric (NG) feeding tube was inserted to ensure Regan received adequate nutrition and could build up her strength.

After 16 days in the N/IICU, Regan could go home. For the next three months, Megan and Regan were on virtual quarantine. Because of Regan’s heart condition, it was important for Regan to not get sick. That meant the only time they left home was to go to doctor’s appointments.

Heart surgery

Regan was 3 months old when CHOP doctors scheduled her heart surgery. The family arrived the day before and met with cardiothoracic surgeon Thomas Spray, MD, the nursing team and an anesthesiologist. The team explained what would happen during surgery, how the family would receive updates during surgery, and what to expect afterward.

Dr. Spray said Regan’s heart was missing a wall between two chambers of her heart, meaning that her oxygenated blood and nonoxygenated blood were mixing. The heart defect was what was causing Regan’s lethargy, breathing issues and difficulties eating by mouth.

Dr. Spray successfully repaired Regan’s damaged heart, and six days later she returned home a changed baby.

“Honestly, it was like the flip of a switch,” Megan says. “Regan was so sick in the months leading up to surgery, but after it, her personality came alive.”

Within a week, Regan no longer needed the feeding tube. Ten days after surgery, she no longer needed pain medication.

Early intervention services

Once Regan’s most serious health issue was taken care of, her family met with the Trisomy 21 Program for an overall assessment and recommendations for early intervention services.

Like many children with Down syndrome, Regan has low muscle tone and needs occupational and physical therapy to help build her strength. She’s also been examined by orthopaedic surgeon Wudbhav N. Sankar, MD, for a possible hip issue.

In the past year, Regan has made significant strides in her mobility. She’s mastered four-point crawling, furniture cruising, and she’s fast enough to regularly chase her dog Walter. “She loves to give him kisses and he’s happy to give her kisses back,” Megan says.

Celebrating today and looking ahead

Now 18 months old, Regan is a happy, silly baby who enjoys playing peekaboo, looking in the mirror and snuggling her baby doll. She never tires of hearing her favorite song, “The Wheels on the Bus,” and has learned basic sign language from watching “Baby Signing Time.”

“She loves to say ‘all done’,” Megan says. “And if she does something that makes people laugh, she’ll do it over and over again. She really enjoys connecting with people.”

The Vowlers are excited to see what’s next for Regan. “We want her to grow up happy and healthy — like every parent does. And as her mom, I want to set her up for success, so she can accomplish what she wants at every stage of her life.”