UK helps baby with rare disease fight against odds
LEXINGTON, KY. (Jan 18, 2022) — Each year, approximately 20,000 infants are diagnosed with trisomy 18, a condition that causes developmental delays due to an extra 18th chromosome. Of those 20,000 babies diagnosed with the disease before birth, very few are born alive. Of the babies born, about 70-90% die within the first year of life.
But there are babies who defy the odds, get the care they need, fight through their tough first months, and live past their first year.
One of those babies is Wylie Duerson.
Born in May 2019 to Karla and Gavin Duerson and five older siblings, doctors knew something was impacting Wylie’s health while she was in her mother’s womb.
“We did an anatomical scan at 20 weeks, and they found heart problems and benign cysts that don’t cause problems themselves, but may indicate there may be a genetic problem,” Karla recalls. After an ultrasound with a high-risk obstetrician, doctors believed Wylie had Down syndrome, also known as Trisomy 21; however, a non-invasive prenatal screening using a blood sample from Karla indicated a high likelihood that Wylie had trisomy 18. As the pregnancy progressed, doctors began to observe other markers for trisomy 18 – like Wylie’s tight hands and little growth. But his official diagnosis will not be given until he is born.
The Duersons were referred to the congenital heart clinic at UK HealthCare Kentucky Children’s Hospital. Louis Bezold, MD, Chief of Pediatric Cardiology and Member of the Nationally Ranked Kentucky Children’s Hospital Joint Cardiac Program with Cincinnati Children’s Hospital, explained that Wylie would likely be born with holes in her heart, but wouldn’t need emergency surgery right away. Together, Bezold and the Duersons planned to wait until Wylie was born and grown to give him the best chance of success in open-heart surgery. Finding a pediatric cardiologist who could give Wylie the exact care she needed, especially so close to home, was a huge relief for the Duersons.
“There are parents who have to advocate for themselves and send their children’s medical records all over the country in search of a surgeon willing to operate on a baby with Down syndrome,” Karla said. “And we are literally less than 10 minutes away.”
A team of NICU doctors, social workers and nurses began working with the Duersons, helping support them through Karla’s pregnancy and preparing them for Wylie’s birth. A key element of this group was the Pediatric Advanced Care Team (PACT) at Kentucky Children’s Hospital, an interdisciplinary team dedicated to improving the quality of life and relieving symptoms for children with life-threatening illnesses, as well as supporting their families.
“While there is no cure (for trisomy 18), there are some medical things we can do to help support their bodies,” said Lindsay Ragsdale, MD, pediatric palliative care physician and director of PACT. “Most people think of palliative care as end-of-life care, but really it’s about children with serious illness and how we help them live their best every day.” ‘they can. So it’s really about living.
Prior to the birth of her daughter, Karla made a point of reading resources from other mothers of children with Down syndrome.
“It definitely helped put me in the mindset of just enjoying every day with her. I just tried to enjoy her life inside of me, not knowing how long she would stay. with us,” Karla said. “Going into her birth, I imagined going to Lexington Cemetery. I imagined choosing a plot. We didn’t install anything at home, we didn’t install a crib.
Even when Wylie was born, her family didn’t have high expectations.
“She was born by cesarean section, and when they showed her to me, she was terribly soft and blue. She didn’t look like a living baby,” Karla said. “But they let my husband hold her, and I didn’t. will never forget this moment. I had just given birth and he just said, ‘She’s breathing Karla, she’s breathing!’ And she just kept breathing and living.
Wylie was taken to NICU, where she was put on a feeding tube. But to everyone’s surprise, she continued to breathe on her own. No supplemental oxygen was needed for the six weeks in the NICU before she was released to return home. The next few months continued to be a test of his strength and a proof of his spirit.
Wylie returned to the hospital for irregular breathing. As Bezold had predicted, the holes in Wylie’s heart began to cause her problems and she underwent successful open-heart surgery before she was 3 months old. She had recurrent urinary tract infections, which caused fever and led to seizures. She had an attack of rhinoceros enterovirus and respiratory syncytial virus (RSV), causing respiratory problems that required care at the PICU. Karla estimates that Wylie spent 70% of his first 10 months in hospital.
Wylie turned 2 in May 2021 – a milestone Karla couldn’t even imagine when she was born, and most babies with Down syndrome never see. At the height of the COVID-19 pandemic, she was not hospitalized once. Now, Wylie’s care primarily involves a feeding tube for formula and medication, and physical therapy, which she has just started undergoing in person for the first time. She charts her own course, supported by her family and her medical team, coordinated by Ricky Goldstein, MD, with the NICU Graduate Clinic.
“I remember Dr. Ragsdale saying, ‘We’ll see what Wylie tells us. What Wylie tells us she needs, we’re going to give it to her,” Karla said. “And Gavin and I were just like, ‘Is this real? This is exactly what we want to hear, but is this real? Can this really happen? And he did. Wylie can communicate his needs , and they really responded to him, not just their preconceived notions of a baby with Down syndrome.”
“All of the other patients who have had Down’s syndrome who have come in behind Wylie — she kind of helped forge some of those paths for us,” Ragsdale said. “It was kind of a new horizon for us to say, yes, we should be offering more surgeries and more options for Down syndrome. I think every children’s hospital over the last 10 years has seen this change and it’s usually because they’ve had patients really change the way they do things. Wylie is quoted by several professionals. We’ll say, “Let’s do it the Wylie way and see how it works.”