When Donna Stiener needed a valve replaced in her heart, she knew exactly where she would go: Johns Hopkins Hospital, more than 150 miles from her home in Easton, Pa.
The common surgery could have been handled at other hospitals. But Hopkins surgeons had saved her life six decades earlier with their pioneering treatment for "blue babies" — those starved for oxygen by a heart defect called tetralogy of Fallot. And ever since, she had insisted on returning for treatment, making sure each time to pause for a prayer at a statue of Jesus in the rotunda.
Today, almost all "blue babies" like Stiener live to be adults. But the early surgical victories, and all the advances to follow for congenital heart defects, have created a new problem: caring for the aging patients is uncharted territory.
"We're learning, and this has opened a whole new field for adult congenital heart defects," said Dr. Richard E. Ringel, an associate professor of pediatrics at Hopkins. "It's because of the success of surgeons."
There is no single accepted set of guidelines for caring for those with congenital heart defects, the most common type of birth defects. And across the country, there is a dearth of doctors developing a specialty in adults; Ringel is one of two at Hopkins.
Doctors know, for example, that patients need stress tests before undertaking strenuous activity. But there is no agreement on when to do the tests, said Ringel. Doctors are also anticipating problems such as Steiner's leaky valve, but they don't know exactly when they will fail or what else may go wrong.
Ringel said technology on both ends of the age spectrum continues to advance and help inform doctors. Some babies can now be accurately diagnosed in the womb; that includes Jonah Hardick, who doctors found last year had tetralogy of Fallot when his mother in Catonsville was 20 weeks pregnant.
And unlike the pioneering Hopkins surgery, some repairs can be made in as little as one procedure, cutting down on complications. Some fixes can even be done without open-heart surgery, said Ringel, who is also director of Hopkins' pediatric cardiac catheterization laboratory.
Doctors still don't really know why babies are born with heart defects. In some cases, infections, drugs or environmental contaminants may have led to genetic mutations. But the number of babies born with the defects has stayed consistent: about nine out of every 1,000, according to the American Heart Association. That means about 36,000 babies are born with a heart defect each year.
Such defects are three times more common than muscular dystrophy and childhood cancer, according to the Adult Congenital Heart Association.
The groups report that about a million adults and 800,000 children born with defects are alive today in the United States, and the number is rising by about 5 percent a year. One of those is Max Page, the child actor who channeled Darth Vader for Volkswagen's recent Super Bowl commercial. According to an interview his family gave to the Great Falls Tribune in Montana, Page has tetralogy of Fallot and wears a pacemaker.
That defect is among the most common heart defects. It's a set of four abnormalities, including a hole between the heart ventricles and obstructed blood flow from the right ventricle to the lungs. Stiener was able to get the oxygen she needed with placement of a shunt that helped blood move from the heart to the lungs.
The technique was developed by Hopkins pediatric cardiologist Helen Taussig, surgeon Alfred Blalock — and surgical technician Vivien Thomas, who didn't get credit at the time because he was black.
Stiener's mother had read about the then-new procedure in McCall's magazine. She knew her daughter had trouble eating and a bluish hue, but thought she just had a dark complexion. When she finished reading the article, she called Hopkins and then headed down to Baltimore in 1951 in the family car to get the surgery for her year-old baby.
The shunt is still used today for some cases, though children outgrow them and eventually need a more modern surgery for full repairs, said Ringel. Stiener had the full repair at 12, after outliving two shunts. She went on to become a wife, mother, X-ray technician and recreational dancer.
"I'm just stunned at what they can do," said the 61-year-old Stiener, who had her valve replacement at Hopkins a few years ago. "They've come such a long way."
Now there is a movement to develop guidelines for treating patients as they age, said Dr. Gil Wernovsky, associate chief of pediatric cardiology at Children's Hospital of Philadelphia.
He developed some guidelines in 2006 based on doctors' experiences there but plans to revise them. He wants to develop a database so doctors can record a patient's progress and compare it to others. The data could become the basis for specific, evidence-based guidelines for all U.S. cardiac doctors and surgeons, Wernovsky estimates, in about five to seven years.
The hospital just wrapped up its 15th annual conference on congenital heart defects, with about 1,000 participants, and Wernovsky said there was some resistance to rules for such complicated cases. But he said more doctors are warming to them.
That's in part because, as the patients age, doctors are confronting a wide spectrum of issues — not just those related to the heart. Children often develop learning disabilities because their brains were deprived of oxygen as babies. And they are often told not to over-stress their hearts, so they don't exercise, and become obese.
At the conference, Wernovsky said, "We talked about how these kids are going to get older and have issues, but we have no plan. My mission is to get people on board with guidelines. But we have to collect the evidence first."
But establishing guidelines will be challenging, because some patients don't follow them. And doctors will need to continue to innovate to develop the best care for patients of all ages, said Dr. Luca A. Vricella, an associate professor of surgery and pediatrics and director of the pediatric cardiac surgery and heart transplantation program at the Johns Hopkins Children's Center.
He points to a year-old baby, Audrey Widmaier, whose surgery in Virginia for tetralogy of Fallot didn't work. She was put on an artificial heart and was transported to Hopkins on a complicated life-support system called ECMO in a first-of-its-kind effort for hospital staff. She's functioning well as she awaits a heart transplant.
"No two tetralogies are alike," he said. "Placing a shunt or doing a repair is a judgment."
But there are some cases closer to the textbook treatment, such as Jonah Hardick, the Catonsville baby. Doctors say his case shows how far the procedures have come.
His mother, Debbie Hardick, delivered him at Hopkins in June and he went into surgery for a full repair for his tetralogy of Fallot in August. His only complication was forgetting how to eat, which meant a few extra days in the hospital.
Vricella said that if he didn't see the fading scar on Jonah's chest, he wouldn't know the infant had surgery. He's now happy and playful. And he's a normal shade of pink.
Doctors already know he'll probably also need a valve replaced. But his parents — who credit a network of family, friends and caregivers for helping them through the anxiety during the pregnancy and surgery — said they can breathe more easily for now.
"At this point he can do whatever he wants," Hardick said. "He's a normal baby. As he grows older, I anticipate he'll be able to do most things. That's what the surgery developed at Hopkins means for most babies."
Congenital heart defects
•The defects to the heart or nearby vessels develop before birth, causing blood to be obstructed or flow abnormally
•About nine out of every 1,000 babies, or about 36,000 babies, are born with a heart defect each year
•Heart defects are about three times more common than muscular dystrophy and childhood cancer and about 40 times more common than cystic fibrosis.
•About 1 million American adults and 800,000 children are living with defects, with the number of adults rising by 5 percent a year.
Source: American Heart Association, Adult Congenital Heart Association
An earlier version of this article incorrectly spelled Debbie and Jonah Hardick's last name. The Sun regrets the error