NBC News
updated 8/22/2003 2:47:31 PM ET 2003-08-22T18:47:31

For parents-to-be, seeing their baby’s heart beating for the very first time is a moment they remember forever. But the snowy images can also bring tremendous anguish. Instead of a healthy heart beating, there are sometimes signs of trouble. For the couple in this story, the news was devastating, a heart defect that could end their child’s life just days after birth. A few years ago, the story would have ended there. There was nothing medicine could do. Now, it’s just the beginning of a remarkable struggle to turn a terrifying diagnosis into a medical triumph.

A doctor and two expectant parents are looking at the flicker of a brand new life, and the tiny traces of a tell-tale heart. This mother, this father, and the medical team they turned to granted “Dateline” unprecedented access to their remarkable struggle to save one of the twins she is now carrying — from the early ultra-sound exams to the ultimate test, the surgical procedure that could give this child a fighting chance to survive.

For Denise and Tom Carmella, their pregnancy came as a big surprise. But their surprise got even bigger when they found out Denise was carrying twins. At their home in eastern Pennsylvania, babies “A” and “B” will be joining two “C”s: nine-year-old Cailee and four-year-old Caitlin. It all adds up to a lot of young Carmellas. With this sudden, unexpected population explosion, you’d think having a husband who’s a contractor would come in handy. The truth is, the Carmellas can use all the help they can get, because along with all the joy this pregnancy brought came some devastating news.

At four months, they learned there was a serious problem: one of their twins, Baby A, had a severe heart abnormality, called hypoplastic left-heart syndrome, or HLHS. They immediately sought out specialists.

Pediatric cardiologist Jack Rychik directs the fetal heart program at Children’s Hospital of Philadelphia.

Rychik: “That means that the left side of the heart has not grown to its expected size and it is not functioning in the way that we would expect it to function.”

HLHS is a lethal defect. Without intervention, every baby born with it will die, just days or weeks after birth. To prevent that, there are only two options: a heart transplant is one, but with so few donor hearts, Baby A is unlikely to survive the wait. The other is a staggeringly complex surgical procedure to reconstruct the defective heart. It will involve three open-heart operations, the first just hours after birth.

Performing radical surgery on a one-day-old heart, barely the size of an apricot, is an enormously difficult medical feat, one that carries considerable risks. But for Denise and Tom Carmella the choice was clear.

Phillips: “How long did you ponder the percentages, the risk?”

Tom Carmella: “I don’t think very long.”

Denise Carmella: “I don’t think we did.”

Tom Carmella: “I don’t think very long, because we didn’t want to get caught up in that.”

Denise Carmella: “What other choice did we have?”

Tom Carmella: “I think as parents you have an obligation to give your child the chance it deserves to live, you know?”

Phillips: “Are you preparing at all for all of the possibilities, even if things don’t go well?”

Denise Carmella: “I think we are. But, I mean, I don’t know that any parent could deal with the fact that something could possibly go wrong. We’re very optimistic that it’s not. We’ll deal with it if it does.”

SIX MONTHS

At six months, the twins are developing well. They weigh just under two pounds each. There plenty of answers and a lot of information for Tom and Denise. The medical team at Children’s Hospital is one of the few centers in the nation to specialize in treating HLHS, with survival rates as high as 90 percent.

They meet their baby’s surgeon, Dr. Thomas Spray, whose skills have helped save the lives of hundreds of children with this disorder. He tells them that the bigger the baby, the better the odds of survival.

Spray: “It’s because we are dealing with a complex operation on a small baby.”

As Denise listens to the surgeon describe an almost unthinkable operation, the reality of the situation begins to hit home. The morning after delivery, she will have to hand over one of her twins to face a surgical ordeal.

Phillips: “Denise, can you even begin to anticipate what that moment’s going to be like, holding that child and then having to let it go?”

Denise Carmella: “Nope. I try not to think about it too much.”

Phillips: “A lot of unknowns, uncertainty. It’s not going to be easy.”

Tom Carmella: “Yeah, there is. You’re okay, hon.”

SEVEN MONTHS

At seven months, the Carmellas return to Philadelphia, this time to the Hospital of the University of Pennsylvania, next door to Children’s Hospital. This is where Denise will deliver her babies. They’ve come to meet their new obstetrician, Dr. George Macones, a specialist in high-risk pregnancies like theirs.

Suddenly, there’s trouble. The ultrasound shows that over the last month, Baby A’s growth rate has plummeted. Remember, surviving the heart surgery depends in large part on the size of the baby, and right now, Baby A weighs barely 2.5 pounds, a full pound less than its twin.

Macones: “If we have a big problem with the growth, let’s say, the worst case scenario is, the little twin stops growing, as sometimes happens, then we’re going to have to have a discussion about how to proceed.”

The heart defect was plenty to worry about, but to hear their baby might have stopped growing, is a staggering piece of news. Denise is immediately ordered to get additional testing.

Macones: “And what that does, that lets us know between ultrasounds that the twins are doing ok, and that the risk of something really bad happening, like the baby dying inside, is very very low.”

“Dying inside” — even the possibility is something no parent is ever ready to hear. It will be three weeks until their next visit - all they can do is wait and wonder: will Baby A keep growing? Can the twins make it to term?

Tom Carmella: “I know what it’s involved with as far as the surgery goes and I know that 2 pounds 10 is not going to make it.”

At nearly eight months, it’s back to Philadelphia. They arrive hoping this ultrasound will put their fears to rest. And in fact there is good news. Baby A now weighs just under five pounds, almost as much as Baby B. The hoped-for growth spurt happened.

But almost immediately, another problem develops. More than a month ahead of schedule, Denise’s body has started preparing to give birth — her cervix has begun to dilate. Deliver now and Baby A’s chances of surviving surgery tumble from 90 percent to more like 60.

Knowing that labor could begin at any moment, the Carmellas agree to leave home and set up camp in a Philadelphia hotel room. This is not where Cailee Carmella, or the rest of her family, expected to be celebrating her tenth birthday.

Three long weeks of trying not to go into labor has taken its toll: For Denise, even the simple act of breathing has become difficult.

Denise Carmella: “You know this top baby is just so high that when you lay down it just takes your breath away, and I get heart palpitations and its horrible.

Finally, with Baby A weighing close to six pounds, a caesarian section is scheduled and Denise couldn’t be any more eager. The following morning, the Carmellas head to the hospital. The C-section is scheduled for 5 p.m. First, doctors perform an amniocentesis, to make sure the babies’ lungs are fully developed. But the results will bring yet another disappointment. The babies’ lungs have not fully developed.

Macones: “The lungs will probably not function like a normal full-term baby.”

The C-section will to have to wait.

Macones: “Probably the middle of next week, middle to late next week. I’m so sorry.”

And Denise’s agony will have to continue.

Denise Carmella: “The way things are going nothing is going as planned.”

One week later, they head back to the hospital — this time, for real. After so much waiting, the day proceeds with startling speed. In fact, events are almost moving too fast for Denise and Tom.

With all the different nurses and doctors checking in, the prepping of operating rooms and intensive care units, the forms and consents to sign, it’s clear a major medical production is getting under way.

It’s a short walk to the operating room, where Dr. Macones works quickly. At 1:26 in the afternoon, on September 26, he delivers Baby A. The child who has been the focus of so much anxiety and anticipation now has a name, a gender, and a face: baby girl Alexa Marie. A minute later, Dr. Macones delivers her sister, Anna Lee.

Alexa, all 5 pounds 9 ounces of her, has been whisked to another room, where doctors get ready to rush her to the cardiac intensive care unit, next door at Children’s Hospital. That’s where she’ll be stabilized and prepared for open-heart surgery in the morning.

But to look and listen to her now, Alexa seems perfectly healthy. Doctors say that’s the irony and the danger, of this condition.

Rychik: “One can miss the diagnosis of hypoplastic left heart syndrome. These children can appear quite pink, and unless there’s a detailed evaluation, they end up going home and can manifest shock and difficulties at home, outside of the hospital environment.”

Just 30 minutes old, and surrounded by a team of specialists, she is wheeled into her mother’s room for a painfully brief visit. Denise can see her, but is not yet allowed to hold her newborn daughter.

Two short minutes, and Alexa’s journey gets under way. After months of false starts and unexpected hurdles, she has finally made it to the starting line.

A BRIEF VISIT

For all she’s gone through in her 16 short hours of life, Alexa has never once felt her mother’s touch, until now. This is not the setting a new parent hopes for. But the Carmellas have no choice. In less than two hours, they’ll be handing their newborn daughter to the surgical team.

So Denise and Tom tune out the noises and lights, the wires and machines and for a brief moment, turn a cardiac intensive care room into an island of calm.

Moments later, anesthesiologist Susan Nicholson arrives to tell them it’s time to head to the operating room. The moment they’ve dreaded for so long is about to happen.

Little Alexa is now in hands that are used to holding tiny hearts. Surgeon Thomas Spray has performed this remarkable operation about 500 times, but it’s never routine. Every open-heart surgery has risks.

After Alexa’s young heart is exposed and she’s attached to a heart-lung bypass machine, ice packs and special equipment cool down her blood, chilling her body from 98.6 degrees to just over 60. It’s the equivalent of falling into a frozen lake. Her metabolism slows down, slower and slower, until finally there’s no heartbeat at all. Her circulation stops. The ventilator is turned off. With no pulse, no blood pressure, no breathing, little Alexa hovers in a state of suspended animation, called hypothermic cardiac arrest.

Her blood vessels have deflated, making them easier to graft and sew, and with no blood to obscure his view, Dr. Spray can work faster. And he’ll have to. He has a window of only 40 minutes to complete the procedure. After that, the risk of injury to Alexa’s brain increases with each minute she remains on ice.

THE PROCEDURE

And this is what he has to do: A normal heart has two well-developed halves. The right side pumps blood through large vessels out to the lungs, the left side, to the body. In Alexa’s case, the left side hasn’t developed. There’s no pump, and only the tiniest vessels to transport blood to the body. So in this first-stage operation, Dr. Spray essentially hijacks the normal vessel going to the lungs and re-routes it to send blood to the body instead. He then adds a plastic tube to ensure that blood still reaches the lungs. The result is a lifesaving feat of cardiac plumbing: One side of the heart doing the work of both.

Dr. Spray quickly sutures unthinkably delicate tissues and fragile blood vessels. The surgical thread is as thin as a human hair. After 32 minutes, he’s done.

Alexa’s heart is restarted, her blood warmed up. She is taken off the heart-lung machine. Her new heart is working steadily now, on its own.

Denise hurries from her other newborn, Anna Lee, to join Tom and hear the good news.

Spray: “Everything went fine, doing well, went as smoothly as it can go and everything looks good, and the heart seems to be working well and we have the right amount of blood to the lungs and the body like we want at this stage. The big thing now will be watching for any bleeding over the next few hours.”

After months of worry, Tom and Denise allow themselves a rare moment of relief.

RECOVERY

One-day-old Alexa Carmella is recovering from reconstructive open-heart surgery. Her parents are now seeing her for the first time since the operation. Alexa is still anesthetized from surgery, she’s not in any pain. Still, the sight is painful to see.

These first 24 hours will be critical for Alexa. Major surgery like hers carries many risks: internal bleeding, infection, even a stroke.

The good news, though, is that newborns heal at an amazing rate — much faster than an adult would from a similar operation. By the next morning, Alexa’s looking much better. Her chest tube has been removed, her eyes are starting to open, and she’s even able to grasp her sister’s finger.

As the Carmellas begin to clear this first major hurdle, there are longer-term questions. What will Alexa’s quality of life be like? What will this heart condition mean for her future and her family’s? There are questions other families have faced and there may be some answers.

Ben Feder: “Doesn’t really change my life at all because whenever I needed surgery, which is like not too often, I just get a tune up in the hospital, kind of, and then just get back to my life.”

Dave Feder [Ben’s father]: “He’s just like any other kid. He’s completely healthy, bounces off the walls, full of energy.”

The kids like Ben were all born with HLHS. They all underwent heart surgery like Alexa’s, plus two more operations to complete the reconstruction. Though some may require a pacemaker, or additional surgery down the road, their quality of life is generally very good. But the oldest patient to have undergone this reconstruction is only 20 years old. So the long-term future for these children remains an open question. And as active as they are today, it is clear that there are limits.

Josie Manley: “In gym class and at the beginning and the end of the year, we have to run a mile and a half. And I just run out of breath. I can’t do it. I just know I can’t make it there.”

Joseph McKain: “I don’t get to finish races and stuff, but that’s okay. I’m fine with it.”

Ben Feder: “Don’t give up. Like also for the parents like some of them say I’ll just take them home and let them die and stuff because that’s what they first suggested. But then my parents didn’t give up and they found something, and they found a surgeon that could do it. So there’s a lot of hope, so don’t give up.”

Hope is something the Carmellas have plenty of. After two weeks of loving care and plenty of feedings, Alexa is finally back up to her birth weight. She’s alert, and active. Her recovery is right on schedule. So much so that she and her sister are ready at last to go home. For Denise, who hasn’t slept in her own bed for six weeks, it’s a milestone, long overdue.

Denise Carmella: “So long as I get to sleep in my bed I don’t care how many kids are in there, two, four, notice I stopped at four.”

On discharge day, for the first time since she was born, Alexa is unhooked from her tubes and wires, freeing them both to form attachments of a very different sort.

The first of Alexa’s three operations has gone as well as anyone could have hoped, and perhaps even better. Doctors say a potential complication, a leaky valve in Alexa’s heart, has, remarkably, cleared up on its own.

Rychik: “It’s a little odd that the leakage completely disappeared on its own, and I can’t explain it.

But Alexa’s family feels no need to look for explanations to them. It’s all part of a much larger plan, a plan that embraces both science and faith.

In the years to come, Alexa Marie Carmella won’t remember this simple sacrament of baptism or the staggeringly complex surgery that made it possible. She’ll hear the story from others. From the mother whose own heart stood still at the sight of her baby’s heart, from the father whose pep talk filled the moments before surgery, and from the older sister whose unspoken birthday wish for her unborn sister came true.

With time and a little selective amnesia, the story the Carmellas tell about Alexa’s first 24 hours, will probably change, as family stories often do, the painful moments fading from memory, replaced by the gratitude and the joy.

Alexa will hear that the doctors were brilliant and their patient as brave as she was beautiful. And with any luck, she will still be hearing the story among survivors like her and with all the hope in the world.

Alexa has now undergone the second of her three open heart surgeries and all went well. Her weight is right up there with her sister Anna Lee’s. Doctors estimate that about 2,000 babies are born each year in this country with HLHS. Specialists like the ones in this story want to get the word out that there’s help — and plenty of hope.

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