Stosh, 6, is an energetic, imaginative and talkative little boy. The fact that he is here at all is a wonder to his parents. Diagnosed with heart defects before birth, he had heart surgery in utero, three reconstructive procedures in his first four years, then a heart transplant.

Katrina first learned there was a problem with her baby’s heart at a scheduled 20-week ultrasound. She was referred to the Cardiac Center at Children’s Hospital of Philadelphia (CHOP), where she and her husband, Tony, met with cardiologist Shobha Natarajan, MD.

An alarming prenatal diagnosis

Dr. Natarajan did another ultrasound to get a better view of the baby’s heart. She confirmed that the unborn baby boy had hypoplastic left heart syndrome (HLHS), a serious condition in which the left side of the heart is underdeveloped. The problem can be ameliorated with a series of three surgical procedures known as staged reconstruction.

More About HLHS

But Dr. Natarajan also noticed another problem with Stosh’s heart — the atrial septum was intact. In all but a very few cases of HLHS, the heart has a hole between the two upper chambers, which is known as an atrial septal defect (ASD). In an otherwise heathy heart, this hole can be a serious problem, but in a heart with HLHS it can actually improve circulation. Babies with HLHS need that hole between the upper chambers to balance their abnormal blood flow, and the hole is critical to surviving the first of the staged reconstruction procedures.

“We were devastated,” says Katrina. “The floor fell out from under us.”

Hope with prenatal surgery

But Dr. Natarajan held out one ray of hope. She brought in Jack Rychik, MD, Director of CHOP’s Fetal Heart Program, and together they described an experimental procedure that could be performed on the fetus in utero. It would involve going through Katrina’s uterus and placing a stent between the two upper chambers of the baby’s heart, creating an opening that would allow the blood to flow between them.

“Dr. Rychik was honest with us,” remembers Katrina. “They were all so compassionate. We were sitting around a table and my tears started flowing. They all put down their papers and talked me through it. It was our only hope.”

Katrina returned the following week for the procedure, which required a multidisciplinary team of specialists equipped to provide the most expert care to both Katrina and her unborn child. Mark Johnson, MD, Director of Obstetrical Services at CHOP’s Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, managed Katrina's care while Dr. Rychik worked with Jonathan Rome, MD, Director of the Cardiac Catheterization Laboratory to place the stent in the fetus’ heart. Success would depend, in part, on the position the fetus.

The procedure went well. The doctors were pleased with the placement of the stent, and the ultrasound showed some blood flowing through it.

Birth, then heart surgery

Katrina was on bed rest for the next few weeks of her pregnancy, coming in for weekly appointments at CHOP. She delivered Stosh at the Garbose Family Special Delivery Unit (SDU), the world’s first birth facility in a pediatric hospital specifically designed for mothers carrying babies with known birth defects.

Within an hour of being born, Stosh had his second procedure, a catheterization performed by Dr. Rome to have a second stent placed in his heart. Then, when Stosh was 3 days old, attending cardiothoracic surgeon J. William Gaynor, MD, performed the first of the staged heart reconstruction procedures.

Stosh had a rough time after the procedure. He was on a ventilator for an extended period, and was in the hospital for five weeks before being released to go home. He was back in the hospital twice in the next two months for catheterization procedures, performed by Dr. Rome, to dilate his aortic arch, which kept narrowing.

At 4 months, Stosh had the second of the staged reconstruction procedures with Dr. Gaynor. Again, he had problems with narrowing in his aortic arch, and Dr. Rome performed a catheterization procedure to open it.

When he was almost 4, Stosh came back to CHOP for the third and last of the staged reconstruction operations, called the Fontan procedure. Again, his recovery was not an easy one.

This time, the problem was with fluid around his lungs, which hindered his breathing. Chest tubes were placed to drain the fluid, which was coming from leaks in his lymphatic system. This is not an unusual occurrence after heart surgery, but it becomes a serious problem if the lymphatic system does not heal itself and the leaks continue. Unfortunately, that is what happened with Stosh.

Complications and further treatment

After four weeks, the leaking lymphatic fluid had slowed enough to remove the chest tubes, and Stosh was able to go home. But a few months later, he was back at CHOP with more severe breathing problems and was admitted to the Cardiac Intensive Care Unit (CICU).

The family met with leaders from the Jill and Mark Fishman Center for Lymphatic Disorders.

The team used dynamic contrast MR lymphangiography (DCMRL), an advanced imaging test they had developed at the center, to confirm the location of the leaks.

Even with the lymphatic leaks closed, Stosh’s heart was not functioning well. A common cold brought him back to the hospital, where he needed a chest tube.

“At this time, the medical team started the conversation with us about a heart transplant,” Katrina says. “It was devastating. Even after all of the sophisticated treatment he had received, his heart just wasn’t working well.”

“A transplant was his best hope.”

Katrina and Tony signed the papers to have Stosh put on the heart transplant list in December 2015 when Stosh was 4 ½ years old.

Heart transplant

That same night, at 2:30 a.m., the phone rang. “I didn’t answer it,” says Katrina. “I assumed it was a wrong number. Then the home phone rang. It was Dr. Lin, letting us know they had a heart for Stosh.” Kimberly Lin, MD, is an attending cardiologist in the Cardiac Center with expertise in heart and heart/lung transplantation.

Katrina and Tony packed their bags for an extended hospital stay, and drove Stosh to CHOP.

Early that afternoon, barely 24 hours after he had been listed, Stosh went into surgery for his heart transplant, which was performed by Dr. Gaynor. Five hours later, his parents were sitting beside Stosh in the recovery room. He came home on the weekend of Valentine’s Day.

A new life for Stosh

“When he got home, he was running and acting playful in ways he had never been before,” says Katrina. “He had not been a big talker before, and now he was talking. He turned into a different little boy.”

That spring and summer, Stosh went to school, took swimming lessons and played baseball. “I could breathe a little,” Katrina says. “I felt that he was safe. That he was healthy now.”

Now 6, Stosh is a happy, social and talkative kid. He loves playing with friends and with his older siblings. He has a great imagination and uses it in play with toy figures. He likes to be read to and to draw and make art projects.

Stosh still gets supportive therapy for motor skills. His first four years of poor health and his many hospitalizations held him back in some aspects of his development. But he’s a happy boy with unique strengths.

Katrina never gets tired of watching Stosh play, thrilled at the energetic little boy he has become. She appreciates all of the medical experts at CHOP for getting him to where he is today.

“They have given us so much hope,” she says.

“They are at the cutting edge of treatment. They work so well together. And they truly, truly care. I’ve trusted them with Stosh’s life so many times. And every time, they’ve done everything they possibly could to bring him through.”