Rocky Mountain Hospital for Children: Expert Care for Complex Congenital Diagnoses

rocky mountain hospital for children: expert care for complex congenital diagnoses

editorial submitted by our partners at Rocky Mountain Hospital for Children

Y“You hear stories every day of people who go through difficult pregnancies, but for the most part, everyone you know gets pregnant and life goes on. When we first heard our diagnosis, we thought ‘Oh– I’m one of those rare stories that everyone hears of,” says Brooke Ricafort.

Brooke’s daughter Audrey was born and received all of her care by the acclaimed multi-disciplinary Maternal Fetal Team at Rocky Mountain Hospital for Children (Denver, CO). After experiencing an abnormal finding during an ultrasound with her OB/GYN, she was referred to Rocky Mountain Hospital for Children for further testing. That testing confirmed a cardiac abnormality and a 22Q deletion (sometimes known as DiGeorge Syndrome). While the deletion itself can affect many systems and have multiple associated birth defects, for Audrey the primary concern was her heart.

22Q deletion syndrome is something Cathy Burson, Genetic Counselor, at Rocky Mountain Hospital for Children is very familiar with. She adds it is second only to Down Syndrome as the most common chromosomal condition her expert genetic team sees.

“Although 22Q deletion can sometimes be detected in cell free fetal DNA in mom’s blood, diagnostic testing is done when clinically indicated, like in Brooke’s case. During pregnancy, testing can be performed to confirm the diagnosis,” says Cathy. “Diagnosis can also be confirmed at time of delivery if parents don’t want to do invasive testing during the pregnancy.”

With the additional information, parents have time to connect with others in similar situations, as well as better prepare for a high risk delivery. Based on the results and suspected associated conditions, their delivery method may change and they may be advised to deliver at a hospital like Rocky Mountain Hospital for Children, where the multi-disciplinary neonatal teams are experienced with managing their high risk delivery.

Brooke says that being able to learn about Audrey’s condition ahead of time afforded her and her husband the gift of knowledge.

“We met with the doctors to understand treatments and technology and we were able to get familiar with the hospital and the drive – because we didn’t live near the hospital,” Brooke said.

When they first met Audrey’s cardiac surgeon, Dr. Steve Leonard, they learned that Dr. Leonard had more than two decades of pediatric cardiac surgery experience. They were assured by his expertise as they reviewed the diagnosis, talked through the anatomical differences between Audrey’s heart and a normal heart, and discussed the expected treatment plan.

Audrey, whose heart was the size of a walnut when born, would need intricate surgery to repair her heart valves and her tiny pulmonary arteries (which were only 3 millimeters wide).

Audrey was born full term on Monday, December 2. She was immediately brought to the hospital’s Level IV NICU at Rocky Mountain Hospital for Children (the largest Level IV NICU in the Rocky Mountain Region). Dr. Leonard, who is an integral part of the multidisciplinary Maternal Fetal Medicine team at Rocky Mountain Hospital for Children had Audrey in the operating room on December 6 and performed a successful 9-hour operation.

Audrey was able to go home 18 days later – just in time to be at home with her family on Christmas Eve.

Audrey at birth

Audrey after surgery

Audrey today, at five years old

Today, Audrey is a happy and jovial 5-year-old girl, and according to her mom, just sassy enough to push her limits where she can. Brooke adds, “She’s proud of her scar. She tells people, I have a special heart.”

Since Audrey’s first surgery, she has had an additional valve surgery and several visits to the catheterization lab --- all at Rocky Mountain Hospital for Children. Brooke reminds families that “Whatever your journey, have confidence in yourself that you can do this.”