Toddlers face struggle with rare heart defect

JEFF GRANIT staff Nicholas Tucci (l) and Jaden Baez are two of what their parents believe are three Old Bridge kids with HLHS.

Modern medicine

perfecting new surgeries to repair organ

BY LAUREN MATTHEW

Staff Writer

Watching toddlers Jaden Baez and Nicholas Tucci play together — laughing at Elmo on TV and cheerfully fitting puzzle pieces together — they seem perfectly normal.

Their mothers, Liz Baez and Karin Tucci, love the sound of the word “normal.” It’s a word that isn’t always connected with their sons.

Jaden and Nicholas, who are 2 1/2 and were born a week apart, have a rare congenital heart defect called hypoplastic left heart syndrome (HLHS).

“When you get diagnosed with HLHS, it’s doom and gloom right away,” Tucci said.

Doctors don’t know what causes HLHS. Survival percentages for patients are grim; about 40 to 50 percent of those born with the defect live. Some speculate it may be genetic, but nothing has been proved.

One in 100 babies is born with congenital heart defects. There are three children in Old Bridge with HLHS (the third is a 2-month-old baby whose family lives down the street from the Baezes).

HLHS can be deadly. A healthy heart has four developed chambers. The heart of an HLHS patient is quite different.

The left ventricle, the chamber that pumps blood to the body after it has been oxygenated by the lungs in a normal heart, is severely underdeveloped and cannot pump correctly. The aorta, the artery that carries the oxygenated blood to the rest of the body, is too small.

As a result, the body gets less energy. It’s running on blood without enough oxygen in it and cannot work normally.

“They need attention immediately,” Tucci said.

The first surgery is performed right away, and the second when the baby is 5 to 7 months old.

“The surgery for their heart defect, the first stage … has only been around for slightly over 20 years,” Tucci said.

Before that, she explained, mothers either took their newborns home to die or waited and hoped for a heart transplant.

“When they first started doing the surgeries, it was all done in one step, and the success rate was not there,” Tucci said.

Over the years, doctors discovered that by separating the procedure into three steps, the success rate went up.

The second and third surgeries are geared toward getting the heart to pump only oxygenated blood and making sure the heart doesn’t have to work so hard, Tucci said.

Once the third surgery is complete, the boys will have “half a heart.”

“They don’t have the two sides of the heart anymore. They essentially only have one side of the heart. They have two chambers,” Tucci said, explaining the intended result of the operations.

“They were born with three [working] chambers,” she continued. “But you can only function with two or four.”

The two atria of the heart will become one large chamber, she said.

Nicholas, Tucci said, was born looking like any normal baby would.

“He looked like there’s nothing wrong,” she said.

Babies born with HLHS who were not diagnosed in utero are taken home. A few days later, they look blue. They don’t eat well, and they sleep a lot.

“What keeps them alive after they’re born is what they call fetal circulation,” Tucci said.

An opening that oxygenated blood moves through while in the womb remains open for a short time after birth. Once that opening closes, normal circulation has to take over.

HLHS babies are given medication called Prostaglandin to force that aperture to remain open until surgery.

“They can’t fix this heart defect,” Tucci said. “They can’t make a new ventricle.”

A three-stage, open-heart surgery is needed to re-route the circulatory system.

“Their circulation is completely different from the normal,” Tucci said.

The right side of the heart is made into the side that pumps oxygenated blood to the body. What the right side of the heart normally does is receive de-oxygenated blood and pump it to the lungs.

HLHS children are expected to have lower endurance as a result, Tucci said.

“As soon as they get a little active and start playing, Jaden’s hands get cold,” Baez said.

The boys’ lips also tend to turn blue, both mothers said.

Another look at the two toddlers and it’s easy to see that their lips are purplish.

“Even in the summertime, if you put them in the pool, they turn blue from the coldness,” Baez added.

“When they were little, I’d never let him cry,” Baez said of Jaden. “He would get blue.”

Colds pose another problem for the boys. When the toddlers get sick, there’s no way to medicate them.

“All the medication out there speeds up their heart rate,” Baez said.

“We probably shelter them a bit more than the normal child, just because of everything they’ve been through,” Baez said.

Baez and Tucci are both stay-at-home moms, they said, mostly because of everything they deal with regarding their sons.

“I couldn’t imagine anything happening to him in someone else’s hands,” Baez said.

After the third surgery, everything should improve, the mothers said. Jaden and Nicholas each had two surgeries; the third will take place for each boy this year.

After the third surgery, Tucci said, the next step is to pray that the boys remain healthy.

Other children have needed heart transplants or pacemakers even after the three open-heart surgeries, Tucci said.

“The oldest child living with HLHS is around 22,” she said. “They don’t really have statistics beyond that age.”

Doctors don’t know if the augmented heart will tire out after that time.

“It’s a lot of unknowns,” Tucci said. “For now, we just enjoy life with them, because they are amazing.”

“Modern technology is getting better,” Baez added.

The third stage of the surgery has been revised since the boys were born, in order to make the procedure less invasive.

Tucci saved blood from Nicholas’s umbilical cord in the hope that someday soon, medicine will have advanced enough to allow the stem cells in the blood to be used to help him.

Baez was unable to save blood from Jaden’s umbilical cord. He was two months premature.

“They could be transplanted with their own genetic material so they don’t have rejection issues,” Tucci said. “That’s a major hope of mine.”

Tucci and Baez met through their obstetrician. Tucci’s unborn baby son was diagnosed with HLHS two months before Baez’s.

Baez found out 20 weeks into her pregnancy, after a level-two ultrasound. Doctors said her son had a severe congenital heart defect and would need multiple surgeries. They said he might also have Down syndrome.

Baez was given the option to terminate the pregnancy, she said. She was told she had a week to decide to medically abort her child.

“Both of us went through that same scenario,” Tucci said. “They strongly lean toward terminating the pregnancy.”

After some research, Baez found out that what her baby had was HLHS. All doctors could tell her before that was that her child would have a severe congenital heart defect.

A nurse from the obstetrician’s office told Baez about Tucci, that she was going through the same thing. The nurse called Tucci and asked if she’d like to speak to another mother in the same situation.

“Karin called me that night, and we spoke,” Baez said.

Tucci had already gone to several doctors and was able to help Baez make some choices.

Children’s Hospital of Philadelphia, Tucci said, was the first “ray of sunshine” she found.

Doctors there offered Tucci better survival statistics than other hospitals had — 95 percent.

“They let us know all our options and all the potential ups and downs,” Tucci said. “That was a first.”

Tucci shared her knowledge with Baez, who was doing research of her own. Children’s Hospital, Baez found, was one of the top three care centers in the country for HLHS surgery.

Baez met with Children’s Hospital’s fetal heart program coordinator, nurse Denise Donaghue.

“It was very positive, very hopeful,” Baez said.

She even got a chance to see babies with HLHS recovering from surgery.

At Children’s Hospital, doctors monitored the mothers throughout their pregnancies with monthly visits.

Tucci and Baez both took their sons to Children’s Hospital for their surgeries. Both have the same two doctors — Dr. Jack Rychik, a cardiologist, and surgeon Dr. Thomas Spray.

Although Feb. 14 is Congenital Heart Disease Awareness Day, not enough is known about the particular defect Jaden and Nicholas were born with.

Awareness must be raised for HLHS, Tucci said, because information available on the Internet is extremely dated.

“Even our own obstetrician didn’t know what was happening at Children’s Hospital,” she said. “It just hasn’t been brought to their attention.”

A “Dateline NBC” show addressed the topic of HLHS. Both mothers were approached about participating in it, but were apprehensive about cameras following them throughout the course of their pregnancy.

In her effort to raise awareness, Baez e-mailed “The Oprah Winfrey Show” a few weeks ago to see if they might air a show on congenital heart disease for Valentine’s Day. She had not yet received a reply last week.

“Not all the outcomes are always great,” Baez said. “But it’s good to know that there is hope out there. It’s not always a death sentence.”

As Baez said those words, both Jaden and Nicholas, all smiles, were still running around the living room, clutching copies of “Finding Nemo” and “Shrek 2.” The phrase “death sentence” does not seem like it could ever be applied to these boys.

“As much as you can explain it to someone, no one else knows what you’re going through unless you’re in the same situation,” Baez said.

Baez and Tucci have leaned on each other, but they’ve also been a part of a nationwide support group called Little Hearts.

The organization was started by a woman whose son, now 8, was born with HLHS. She took him home from the hospital and was encouraged to let him die. Instead, she did research, found out about Children’s Hospital in Boston, and took her son to have the three surgeries.

The organization has an annual picnic that encourages Baez and Tucci.

“There are children of all ages,” Baez said. “It’s just hopeful, it’s encouraging. It’s nice to see these kids thriving and doing well. It’s great to have that support.”

The organization provides fund-raisers and an e-mail ring so that parents can keep in touch with one another.

“I have such a hard time, as we probably all do, wondering why did this happen,” Tucci said.

Jaden and Nicholas both have purple lollipops in their mouths as their mothers talk. They’re smiling around the candy.

The third surgery is the hardest, emotionally. For the first two, the boys were so young they weren’t really aware of what was going on.

They still aren’t all that aware, although Tucci remembers putting Nicholas in the tub for a bath and watching him run his hands over the scars on his chest, a puzzled look on his face.

Tucci and Baez worry about the day they will have to explain all of this to their sons. They worry that Nicholas and Jaden might not understand the decisions they made.

Playing happily, lips purple from the candy, the boys are typical toddlers, fighting over toys.

“It’s normal, and for us, that’s a nice thing,” Tucci said.

For more information on HLHS, visit the Tucci family Web site, www.mytucci.com, www.littlehearts.org, or call Little Hearts at (866) 435-HOPE.