Thriving After A Devastating Heart Prognosis

Julie Gutierrez found the man she says saved her son’s life, cardiologist Tom Collins, MD, the way hundreds of families have: a desperate web search led to a recommendation from an online support group. Julie’s son, Anthony, was born with Williams syndrome, a rare chromosomal disorder that causes severe heart defects, among other problems. After months of treatments and hospitalizations, she’d just been told that Anthony wouldn’t live past his first birthday.

“That was my breaking point, and I think I cried for a whole week,” says Julie. “Then I decided, ‘No—I’m not going to let this happen.’” She found a support group, where mom after mom told her how lucky she was because she lived in California. “They all said the same thing: ‘Go to Lucile Packard Children’s Hospital Stanford—Dr. Collins is there,’” says Julie.

Julie called Dr. Collins’s office and spoke with his nurse coordinator about the roller coaster they’d been on. It started when Anthony was about a week old; Julie worried that he wasn’t breathing normally. To be on the safe side, she brought him to the local Emergency Department, where an X-ray showed that his heart was enlarged. He was transferred to a children’s hospital in Orange County, where cardiologists diagnosed him with Williams syndrome.

“I’d never heard of it, and it was such a shock,” says Julie, whose four other children have all been healthy. Doctors explained that Anthony needed open-heart surgery to fix the narrowing of his heart’s aortic valve, which together with the aorta makes possible for the blood to flow out of the heart to the rest of the body.

Anthony stayed in this local hospital for a month after the operation, which was thought to be successful. But three days after getting home, he started gasping for air. Paramedics brought him back to the hospital, and a cardiologist told Julie that Anthony’s heart could stop at any time. They advised another surgery at a more specialized hospital. “Until then, I’d thought that all children’s hospitals were the same and that doctors were all equipped with the same knowledge,” Julie remembers.

Anthony was transferred to another nearby hospital for the second operation and was hospitalized for three months because he had so many complications. Worse, the doctors told her that his condition would only deteriorate. “They said nothing more could be done for him,” she says.

That’s when Julie found the support group, and Lucile Packard Children’s Hospital Stanford.

Dr. Collins’s team encouraged her to come in for an evaluation in the multidisciplinary Cardiovascular Connective Tissue Disorders program. Her husband stayed home with their other children while Julie and her sister made the seven-hour drive to Palo Alto with Anthony in hopes that something could be done for him.

The Cardiovascular Connective Tissue Disorders program is known for taking on some of the world’s toughest cases and for performing heart surgeries that are so complex that many other hospitals won’t attempt them. The program has become so well known, in fact, that Dr. Collins is contacted almost every day by families and physicians from around the world looking for advice. “We’ve become a place known for welcoming the sickest kids with the most severe cases who, like Anthony, were deemed inoperable,” says Dr. Collins.

Dr. Collins established the program at Packard Children’s Hospital in 2017 to be a national referral center for children with Williams syndrome, and for children with other conditions, such as Marfan or Loeys-Dietz syndromes. These disorders are multisystem disorders, and it takes a large team like the one he created—including specialists in cardiology, dentistry, endocrinology, genetics, nephrology, neurology, neuropsychology, nutrition, orthopedics, ophthalmology, and psychiatry—to work together to address a child’s immediate and long-term needs, ranging from the arteries and kidneys to intellectual impairment and visual processing challenges.

The night before Anthony was scheduled to meet this whole team at his clinic appointment, he contracted a virus and ended up in Packard Children’s Hospital’s Intensive Care Unit (ICU). “Dr. Collins came to the ICU to meet us and said, ‘Now, that’s a way to make an entrance!’” remembers Julie. “The doctors come and talk to you, and explain things carefully. That’s a big difference between Lucile Packard Children’s Hospital Stanford and other hospitals.”

Dr. Collins consulted renowned cardiothoracic surgeon Frank Hanley, MD, chief of pediatric cardiac surgery at the hospital’s Betty Irene Moore Children’s Heart Center. Dr. Hanley is known for inventing a surgical technique called unifocalization that he often applies to children with Williams syndrome. He decided they could operate and would do the surgery in three stages instead of his signature one-and-done method. “I knew that Anthony’s case was severe, and I told him I was concerned that nothing would work,” says Julie. “But Dr. Hanley told me, ‘Your son has Williams syndrome, which is our specialty here. That’s what we do.’ He was so calm and reassuring that it gave me all the faith in the world. I felt that everything would go perfectly, and it did.”

The first surgery took nine hours and successfully reduced the dangerous pressures in Anthony’s heart. The second operation, four months later, addressed the re-narrowing in his artery. The last one was a daylong surgery to place 23 patches on Anthony’s pulmonary arteries—a technique not performed anywhere else, and in which Dr. Hanley specializes, to reconstruct the main pulmonary artery and its branches, allowing deoxygenated blood to be delivered to the lungs, where it is enriched with oxygen and pumped back into the heart.

After the surgeries, the medical team has stayed in close contact with Anthony’s local cardiologists. During a recent on-site visit, the specialists noted that they had no major concerns. “He looks great,” says Dr. Collins. “He’s growing, alert, and playing, and has a great hairdo—and this was a kid who had been totally written off,” he says.

Like most children with Williams syndrome, Anthony is extremely outgoing and gregarious. It’s one of the things that Dr. Collins enjoys so much about his work. “A typical trait is what’s described as a ‘cocktail personality,’” he says. “The kids often talk to everyone as if they’re their best friend.”

In the future, if Anthony develops issues like anxiety or academic problems, or if other parts of his body are affected, he’ll be able to see all of the specialists in the program in one day, in one place, at our multidisciplinary clinic. Dr. Collins and the team made sure to structure the program in this uniquely patient-centered way, to make it easier on families—many of whom fly long distances for visits—to come in on a weekend, see all of the specialists on Monday, and fly home. In between visits, the team works hand in hand with local cardiologists and other specialists as needed.

Julie doesn’t mind making the seven-hour drive to the clinic visits, in part because she gets to see many of the moms from the online Williams syndrome support group in person. And at home, Julie takes Anthony for eight hours of therapy a week, including occupational, physical, and speech therapy, to help him catch up developmentally. “He’s so patient with all of it,” says Julie. “He’s always happy, always smiling. You should see him around his two brothers and two sisters. When he sees them, it’s like he’s seen God. He just lights up.”

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