HLHS (Mexico)

Families throughout Mexico travel to the country's capital for its world-class museums, ancient Aztec ruins, noted restaurants and hospitals. So for Elizabeth and Eduardo Torreblanca, flying 1,000 miles from their home in Cancun to deliver their firstborn in Mexico City was not unusual. But when their baby was born with an unusual condition, the Torreblancas would have to travel much further to give her a chance at life.

Two days after Regina's birth on November 20, 2010, an echocardiogram or "echo" revealed that she had hypoplastic left heart syndrome (HLHS), a complex congenital heart defect that results in an underdeveloped left side of the heart. The hospital in Mexico City had limited experience with HLHS and gave the Torreblancas little hope. "The doctors told us that her condition is not compatible with life," says Elizabeth.

The Torreblancas frantically began to research the condition and discovered that in other parts of the world, babies with HLHS can go on to live a full life after undergoing a series of three operations that enable the heart's fully functioning right ventricle to do the work normally done by two ventricles. Mexico City cardiologist Julio Erdmenger, MD, referred the Torreblancas to Gerald Marx, MD, at Boston Children's Hospital. Erdmenger had spent a 6-month training period in cardiology under Marx at Boston Children's. Upon reviewing Regina's echo and a video of her breathing, Marx told the Torreblancas that if they could get to Boston immediately, his team could help - Regina's time was running out. The Torreblancas scrambled to get ready for the trip to Boston while keeping vigil over their daughter. The clock was ticking.

Days before their departure, Elizabeth and Eduardo were told that 2-week-old Regina might not make it through the day. "We told the doctors that if she was going to die, we didn't want her to suffer. That was a very difficult decision that no parent should have to make. The whole day we hugged her and prayed and miraculously by that night she was fine. That's when we realized that this baby wanted to live, and we said to ourselves, 'Whatever it takes, we're going to fight for Regina.'"

Regina arrives in Boston just in time

To their great relief, Regina hung on a little longer and was transported via air ambulance to Boston Children's on December 15, 2010, 25 days after her birth. “We made it. We didn't know where we were going to stay even that first night, but that didn't matter. We got there."

The Boston Children's team was ready and waiting. They confirmed Regina had HLHS and the following day, cardiac surgeon Frank Pigula, MD, performed the Norwood procedure on Regina, connecting the right ventricle, via the pulmonary artery, to the native diminutive aorta so that blood could flow from the right ventricle through branches of the aorta and into the body. The 8-hour surgery was a success.

Before surgery, the Torreblancas knew that Boston Children's had the expertise and advanced technology - those were in fact the reasons they had come - but what they didn't realize until watching Regina's medical team in action was how important the quality of her care would be. "The care at Boston Children's is very integrated. It's not about "me" the doctor’: it's about "we the team." Between everyone, they do the best for the child.

In Boston for the long haul

Regina's second surgery would place a bi-directional Glenn shunt to control the blood flow between the superior vena cava and the right pulmonary artery. The surgery had to be postponed until Regina’s lungs matured, so Boston Children's International Center arranged for Elizabeth to stay in hospital housing just four blocks away, where Eduardo joined her when he wasn't back in Cancun for work. Elizabeth cries when she remembers how fragile she felt during those five months awaiting surgery: I'm so thankful to everyone in the hospital for not only taking care of my daughter but also of me. The nurses would make me eat and rest, and all of their communication helped me relax. They spoiled me."

Regina's second surgery was performed in May 2011, and she was released two months later. The family went home to Cancun, but within weeks Regina had developed an arrhythmia or irregular heartbeat and had to return to Boston to have a pacemaker implanted under the skin to regulate her heartbeat. The last surgery, the Fontan operation, connects the inferior vena cava to the pulmonary artery, and again the family had to wait for Regina's lungs to mature further and for her to gain weight. Almost a year later in July 2012, Pigula performed the Fontan procedure—Regina's third and final operation.

And finally home

Nineteen months after she was born, Regina went home to Cancun, this time to stay. Regina's day-to-day cardiac care has been transitioned back to Erdmenger, and she has checkups with Marx once a year in Boston. At the most recent checkup in January 2015, Marx said, "If I met Regina for the first time, and you told me that she had HLHS, I wouldn't believe you." She has blossomed into a kind, loving, energetic 4-year- old who runs, swings, slides, swims and plays at the beach. Marx says that Regina's only limitation is that she can’t play contact sports and should rest when tired. "But the truth is she's never tired" Elizabeth says. "She never stops!"

Now that Regina is well, Elizabeth helps guide other families with children struggling with heart defects. "So many people heard Regina's story and reached out to me from Mexico and even from other countries in Latin America like Argentina, Chile, Paraguay and Uruguay. They have a child with HLHS or are pregnant with one and were told there was no hope. There is hope. Regina gave them hope."

Jenny Fernandez

Learn more about the Boston Children's Heart Center.