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Giving Children with Genetic Heart Defects a Fighting Chance

Kat Hendrix, Ph.D.
April 26, 2021
The Evans family with baby Faye

In February, 2020, a routine ultra-sound revealed that Chris Evans' baby had a rare genetic disorder, Trisomy-18. She and her husband chose to continue the pregnancy, hoping that their daughter, Faye, would be spared the condition's most serious ramifications. But, because Trisomy-18 is very rare and has high pre- and post-natal mortality rates, they faced challenges finding a medical center that could offer Faye the care she needed. "The first places we went said they would do anything to help her survive - except surgery. And, although her heart rate was strong, we already knew she'd probably need some type of heart surgery," says Chris.

From their home in North Carolina, they worked with a neonatologist to identify "Tri-Friendly" medical centers that perform heart surgery on infants with Trisomy-18. Their list included the Medical University of South Carolina's (MUSC's) Shawn Jenkins Children's Hospital. "They were amazing, right from the start. Every person I spoke to treated her like a child - not just a "Trisomy patient." They weren't scared off by her diagnosis at all," says Chris.

At their first consultation in July, the MUSC team explained Faye's condition and gave them resources and information about what to expect going forward. Lanier Jackson, MD, a pediatric cardiologist at MUSC Children's Health was there. "Trisomy-18 is the second most common Trisomy after Down's syndrome and occurs in about one in 6,000 births. It has significant consequences and can affect every organ system. It's also associated with high mortality in the first year. But some survive into childhood, and a small percentage live to five or ten years of age or more. The length of survival really depends on the degree of cardiac disease and other organ involvement," says Jackson.

Dad with baby Faye 
Baby Faye with her daddy

While heart defects are common, there is debate about whether to offer cardiac surgery to Trisomy patients. "In some hospitals, the thinking is that surgery is too risky or will only prolong their lives for a short period. The way we see it is that Trisomy is not a one-size-fits-all situation," explains Jackson. "We prefer to see how the baby is doing and then have an open conversation with the family to come to common ground on possible options and outcomes. We'd rather consider whether the individual patient is likely to benefit from cardiac surgery. Of course, we won't do a surgery that has high mortality rates in and of itself. But, knowing that some of these children can have several years of meaningful life, many families are interested in that if it's possible." In fact, a recent study finds that more centers nationwide are beginning to offer heart surgery to children with Trisomy conditions. This shifting trend most likely reflects both better medical management prior to surgery and advances in surgical techniques.

For the Evans family, it was a relief to know that, if Faye was a candidate, the MUSC team would repair her heart. "They were very up-front - they told us what would make her a candidate and all the things that could disqualify her," says Chris. "They said, "We don't know what it will look like when she comes, but we'll do everything we can to get your child to heart surgery." They were all really rooting for her. To us, it felt like once we came to MUSC, we didn't have to fight for fair care for her anymore - it was graciously given. Everyone at MUSC was fighting for her with us," says Chris.

When Faye was born in September, a thorough organ evaluation immediately after birth confirmed that she had a ventricular-septal heart defect - one of the most common in Trisomy infants. By October, Faye was no longer on oxygen and stable enough to be discharged. The family got training and resources to manage her care at home, and the MUSC care team followed up weekly and consulted regularly with her local cardiologist. Although Faye initially did well, a heart catheterization in November revealed significant pulmonary hypertension (high blood pressure in her lungs) which prevented her from being be a candidate for cardiac surgery. "Faye's pulmonary hypertension put her at significant risk for not surviving the surgery," Jackson explains. "The hope was that, with time and using medications, her lung pressures would improve enough that surgery would be safe."

As the weeks passed and Faye continued doing well at home, the MUSC team scheduled another heart catheterization to see if her lung pressures had improved enough to make surgery possible. But, before that could be done, Faye had a pulmonary hypertensive crisis and was admitted to the hospital in North Carolina. "She passed on Dec 30th - one year to the day from when I found out I was pregnant," says Chris. "Even though we didn't get the results we wanted, we can't say enough about the amazing care we got at MUSC. They gave us a choice and gave her a chance. They had hope and did their job and showed her the utmost love and care. Even the secretaries and the people who cleaned the rooms were just full of kindness and love for us. Through it all, people went above and beyond for our child, and we couldn't be more grateful."

Frick, TA and Tejtel, SSK. Trisomy-18 Trends Over the Last 20 Years. Pediatrics. March, 2021;147(3):405-406.