Heterotaxy Syndrome: Julia’s Story

Before she was born, Julia was diagnosed with heterotaxy syndrome, a severe congenital heart defect in which she was born with only one pumping chamber. By the time she was 3 months, she had undergone a series of three open-heart surgeries known as staged reconstruction to enable her heart to pump oxygenated blood to her body. She had the first of these operations when she was 2 months old, the second at 18 months and the third when she was 3.

The procedures enabled Julia to live a normal active life through her elementary school years. She did a lot of hiking and camping with her family, and had no problems keeping up. But as Julia got older, a new problem emerged.

Julia developed pulmonary arteriovenous malformations (AVMs), which caused a progressive decrease in her blood oxygen level. A fourth surgery when Julia was in the sixth grade failed to correct the problem. Her condition began to deteriorate.

“I was exhausted,” she remembers. “I was in pain all the time. I would come home from school and need to take a nap before doing my homework. I couldn’t hang out with my friends as much because I was so tired. I remember one time, sitting with my mom on the couch, I just broke down because I was so upset by the constant pain and being tired all the time.”

By the time she was in the eighth grade, Julia’s condition was bad enough that her cardiology team at Children’s Hospital of Philadelphia (CHOP) considered putting her on the list for a heart transplant. However, the problem wasn’t that her heart was failing — it was that the blood wasn’t picking up oxygen as it went through the lungs. Her medical team was determined to find another option for Julia.

Julia’s breakthrough: an innovative procedure

Among the doctors on Julia’s team was Jonathan Rome, MD, Director of CHOP’s Cardiac Catheterization Laboratory.

“We wanted to figure out if there was a way to reroute the blood inside her body without surgery,” says Dr. Rome. “We made three-dimensional models of her anatomy. We did flow mapping. And we finally came up with a way that we thought would work to rechannel her blood flow using special stents delivered through catheters.”

The procedure had never been tried before, and there was no guarantee it would work. But Dr. Rome had confidence that it was a sound alternative to a heart transplant, and he presented the idea to Julia and her parents.

Julia’s family let her make the decision. She remembers the weight of the choice. The prospect of yet another open-heart surgery was not appealing, and she understood the long-term consequences of a heart transplant — a life-long regimen of medications and the risk of eventual rejection. Even though she would be the first patient to undergo the new procedure, she chose to give Dr. Rome’s idea a chance.

Turning the corner

The procedure was done as Julia was about to start high school. Stents were inserted using catheterization through her blood vessels. Unlike her previous heart reconstruction operations, this one did not involve surgery. She spent two weeks at CHOP so the medical team could observe her and make sure her system had no negative reactions to the procedure, then she was released.

Julia was initially still tired and experienced low levels of activity. But after two months, she began to feel her energy returning. She joined her high school’s marching band, with special allowances to let her rest frequently. Over the course of her freshman year, her strength and endurance continued to build. By the time she started her sophomore year, she was able to keep up with her classmates. She could play in the marching band without breaks.

A medical measure of circulation health is pulse oxygenation. The level for a healthy person is over 96 percent. Before the procedure, Julia’s oxygenation level was in the high 70s. Soon after the procedure, it had climbed in the high 80s. It has since stabilized in the low 90s.

An active adult with big dreams

Julia is now an active young adult who is planning on becoming a pediatric nurse, and she has the energy for both her studies and extracurricular activities. She’s an avid reader and plays the flute, and she is an active member of three campus organizations. And when Julia has breaks from her studies, she enjoys hiking with her family.

“We go for long hikes,” she says. “Seven or 8 miles — which is incredible to me because I wouldn’t have been able to do that before.”

Julia looks forward to graduating from nursing school and being in a position to help other young patients and their families. She believes that her experiences as a patient will help her provide the strength and comfort that her nurses at CHOP provided to her. In fact, she was inspired to become a nurse by the care she received at CHOP when she was a child.

“The nurses were there for me when I was younger,” she says. “Now I want to be there for other people.”

Her decision to allow Dr. Rome to try out a new method for correcting her circulatory problems has already helped other patients. Because the procedure worked so well for her, variations on it have since been used for others with similar problems.

“CHOP changed my life,” says Julia. “If it wasn’t for the new discoveries being made in the Cardiac Center, I wouldn’t be able to live out my dream of being in nursing school.”