Amanda Mattioli was working in Afghanistan as a government contractor and had just completed a whirlwind round of travel to three separate continents when she learned she was pregnant.
The helicopter unit that took her back to the main base, so she could return home for her pregnancy, gave her a unit sticker to commemorate her baby’s first helicopter ride. Little did she know it would also mark the beginning of a much longer journey for her and her son, William “Jayce” James.
Amanda got her first hint the ride would be bumpy at her 20-week ultrasound, when she learned Jayce’s heart was on the right side of his chest, rather than the left side. She was sent to a hospital in nearby Pittsburgh for a level 2 ultrasound, where doctors discovered Jayce had three other major heart defects: complete atrioventricular canal defect (AV canal), transposition of the great arteries (TGA) and pulmonary atresia. Amanda was also referred to a geneticist.
The geneticist told her it was very likely he had trisomy 18, a genetic disorder that causes severe birth defects. “She said he probably wouldn’t make it to birth, and if he did, he wouldn’t make it more than a few hours.”
Amanda, overwhelmed and upset by the way this news had been delivered, returned to her local doctor and was referred to a private cardiologist in Pittsburgh for a second opinion, Dr. Prapti Kanani, a former cardiology fellow at Boston Children’s Hospital.
Finding a beacon of light
Kanani did her own ultrasound and came to another conclusion. She suspected heterotaxy syndrome, a rare, complex condition where the heart or other organs are not formed correctly or are in the wrong position within the body.
“Normally, heterotaxy is bad news for parents, but for me it was a sigh of relief. Trisomy 18 isn’t compatible with life, but heterotaxy is,” says Amanda. “It was kind of like a beacon of light.”
Further ultrasounds confirmed the diagnosis, and identified a number of other heart defects, as well as no spleen, rotated intestines, and problems with his kidneys and lungs.
Armed with a diagnosis, Amanda searched the internet for support.
“I found a small group of moms in the heterotaxy community,” says Amanda. “Their advice was that hospitals with high-volume heart centers were the best, and Boston was the best of them all.”
She considered traveling to Boston for Jayce’s birth, but ultimately decided to deliver in Pittsburgh, where she would be close to home and family.
A rocky start leads to a major decision
Jayce was born on Feb. 6, 2014. His first weeks were rocky, having gone through two open-heart surgeries and having cardiac arrest twice.
When he was discharged six weeks later, Amanda made a big decision: From then on, she would travel to Boston Children’s for Jayce’s care.
“Philadelphia is closer, but I wanted him to get the best care possible, even if it meant traveling further away from my family,” says Amanda. “I talked it over with Dr. Kanani, and she was totally supportive. She recommended we see Dr. Gerald Marx.”
Their first trip came sooner than expected. A few weeks after being discharged, Jayce wasn’t doing well, and Amanda drove him straight to Boston herself.
“Dr. Marx was really encouraging that they could do a biventricular repair on Jayce’s heart instead of the traditional single ventricle approach the other hospital was suggesting,” says Amanda.
Biventricular repair involves converting a heart that has only one working lower heart chamber (single ventricle) into one with two functioning ventricles. The Boston Children’s Biventricular Repair Program is able to achieve two-ventricle circulation in some children who are not candidates for this approach at most other hospitals.
“I liked that Boston Children’s is known for pioneering new procedures, where other hospitals like to keep people stable with single ventricle. If I could give Jayce the chance at a fully-functioning heart with two ventricles, then I was going to go for it.”
Because Jayce’s heart was so complex, his biventricular repair needed to take place in two surgeries. They scheduled a first surgery for November, and Amanda took him back home.
But in October, Jayce had another medical emergency and, once again, Amanda drove him through the night to Boston. After another close call, his surgery was moved up to the end of October.
Rocking the first complex surgery
During the first surgery, Dr. Pedro del Nido, chief of cardiac surgery at Boston Children’s, began the complex process of repairing Jayce’s unusual heart.
“It was a totally intense surgery, but Jayce rocked it,” says Amanda. “He did so much better than he had during his previous two surgeries, even though this one was so much more complex. He was only in the hospital for 11 days afterwards.”
Jayce’s second surgery to complete his biventricular repair was scheduled for the following June. Amanda vividly remembers waiting to hear the surgery was complete.
“My mind went down a lot of dangerous paths that day,” she recalls. “And then Dr. del Nido was standing there telling us that the surgery was done. I just started crying; I couldn’t even talk. It felt like the journey we had been on for two years was finally done. Even though he will need more procedures, they are just for maintenance and upkeep. The major surgery was done and my son had a two-ventricle heart. It was the best news ever.”
Achieving a ‘surreal’ level of normalcy
That was a little over two years ago. These days, Jayce is a happy and rambunctious 3-year-old who loves riding his bicycle, swimming and roughhousing with his friends. This year, he also became a proud big brother to baby sister Lainey, his “best friend in the whole world.”
He did need to have a pacemaker implanted after his second surgery, to help regulate his heartbeat. But that hasn’t slowed him down.
“I used to worry that he wasn’t going to be able to keep up,” says Amanda. “But he has so much energy he wears me out. It’s a level of normalcy that almost seems surreal, especially when I was told he was incompatible with life three years ago.”
Jayce returns to Boston Children’s for intermittent cardiac catheterizations. He also needs occasional consults with other specialists for his heterotaxy.
“We’ve been really lucky,” says Amanda. “A lot of other kids with heterotaxy need bowel resections and liver transplants, but he hasn’t needed any of that.”
Because Jayce has no spleen, getting sick can be dangerous. For this reason, he hasn’t been able to attend daycare or preschool, and he may not start school until second grade. But Amanda makes sure he’s not isolated.
“Some heterotaxy moms keep their kids in, but I want him to have a normal life,” she says. He plays with friends, goes to the playground and swims at the public pool.
“I call him my one in seven billion baby, because he’s the only one with his specific heart defects combined with heterotaxy,” says Amanda. “I don’t know how Dr. del Nido was able to make Jayce’s heart a two-ventricle, four-chamber heart, but he did it. He’s brilliant.”
Learn more about Boston Children’s Biventricular Repair Program.