Amber was diagnosed with heterotaxy syndrome and double outlet right ventricle (DORV) with pulmonary atresia soon after she was born. The combination of malformations required surgeries during infancy and early childhood to correct the flow of blood from her heart to her lungs and the rest of her body. Her parents, Jennifer and Rocco, were told that she would require close monitoring by heart specialists, and would likely need additional heart surgery when she was older.
When Amber was 1 year old, her parents moved from Arizona to Philadelphia — partly to be closer to family, and partly for access to the pediatric cardiac specialists from the Cardiac Center at Children’s Hospital of Philadelphia (CHOP).
Life-long care at CHOP
The first time Amber really needed that expert care was when she went into heart failure at 3 years old. Her medical team discussed a heart transplant, but were able to get her condition under control with medication.
For the next few years, taking a combination of medications, Amber was able to lead a relatively normal life. She attended school, played sports, and developed a passion for riding horses. She visited the Cardiac Center for regular checkups to monitor her heart function and adjust her medication as she grew.
More About Heterotaxy Syndrome
When she was 14, however, Amber and her doctors began to see a decline. She started to tire more easily, could no longer run for more than short stretches, and grew less tolerant of heat and cold. “I noticed that my stamina was not what it used to be,” Amber remembers. “Walking up stairs was hard.”
The trend grew steadily worse, and her visits to CHOP more frequent. When she was 15, her cardiologist informed the family that she would need a heart transplant. Amber was put on the transplant list on Dec. 1, 2014.
Though she was weakening, Amber was able to stay in school through the end of that year — her sophomore year of high school. But over the summer, her health took a turn for the worse. She spent two weeks hospitalized at CHOP, which turned out to be the start of a longer stretch.
A life-saving device
Amber was still on the transplant list, but in order to survive long enough to receive a donor heart, she needed additional support. Her medical team proposed implanting a ventricular assist device (VAD), which would mechanically take over the pumping function of her heart. Amber and her parents agreed to the procedure, which involved open-heart surgery.
With the VAD implanted, Amber had no pulse, but a constant flow of blood was pushed through her system by the device. She wore a battery pack on her back and always had to be near someone who was trained to respond to any mechanical or battery malfunction.
Despite some scares, the VAD did its job, and kept Amber alive. Her strength slowly returned — and so did her appetite. Eating again, she started to regain the weight she had lost, and she was finally discharged from the Hospital.
A phone call, and a new heart
In November 2016, Amber was at CHOP with her father for a day of tests and an infusion of medication. As Amber and Rocco were in the car on the way home, Jennifer got a call from CHOP that a donor heart was available. They were instructed to pack their things and get Amber back to CHOP as soon as she got home. When Amber came in the door, it was her younger brother, Nick, who gave her the news. “I was shaking. I was so excited,” says Amber.
The transplant surgery took place the following afternoon, led by J. William Gaynor, MD, an attending surgeon in the Cardiac Center and Surgical Director of CHOP’s Heart Failure and Transplant Program.
Amber remembers that the first thing she did when she woke up was pat around in the bed to see if the VAD was gone. Then she told her mother she was hungry and asked if they could go down to the cafeteria.
“Once she woke up, she was raring to go,” says Jennifer.
“She was jumping out of bed before they were ready for her. She was determined to make a quick recovery. She was like the Energizer bunny. She was amazing.”
Recovering through exercise
Within days, Amber was working with Michael McBride, PhD, Program Director of the Cardiovascular Exercise Physiology Laboratory. The Cardiovascular Exercise Physiology Lab provides diagnostic testing and rehabilitative services to patients with heart disease who require expert clinical exercise physiology. The lab is equipped with the latest technology for providing inpatient and outpatient rehab services and plays a critical role in helping patients like Amber recover.
“I was on an exercise bike, lifting weights, going up stairs,” says Amber. “After my other surgeries, I dreaded physical therapy, but not this time. It was hard because my muscles had deteriorated. But each day it got easier.”
After her release, Amber returned to CHOP for regular visits with Matthew O'Connor, MD, her cardiologist, who is the Medical Director of CHOP’s Heart Failure and Transplant Program.
A bright future
Amber was soon back to riding horses, a special passion she had had to forego for two years. She finished high school with her class, and is now in college as a full-time student. She would like to become a nurse, to care for children the way the nurses at CHOP cared for her when she was younger.
“They were good at what they do,” says Amber. “The medical side. But they also knew how to make me feel better. They would sit with me and cheer me up.”
“My exhale moment in this whole long ordeal came nine months after the transplant,” says Jennifer, herself a nurse. “Amber was on some extra medications at first to prevent rejection. When she had her first tests after coming off those, and the pressures were good and the biopsies clean, I knew we were safe.”
“We are so blessed,” Jennifer continues.
“We’re so thankful that she’s here, period. And for everything CHOP has done for us.”