Kyra Ray

A congenital heart defect kept Kyra Ray from enjoying various activities. Treatment from a cardiologist specializing in adult congenital heart defects now lets her kick up her heels.

"Grown up" care mends patient with congenital heart defect.

Kyra Ray is a living example of the "care gap" that hundreds of thousands of people like her can fall into. As a child, she was considered a modern medical marvel because the "blue baby" heart abnormality she was born with was repaired well enough to give her life — unlike many children with congenital defects who preceded her. But as a grown-up, she was too old to be seen by a pediatric cardiologist — yet couldn't find an "adult" cardiologist who could help her as problems surfaced. These doctors treat heart disease that is acquired, not structural abnormalities. They have no experience with people like Ray.

The result was that Ray's heart steadily enlarged, but the chest pains and shortness of breath she often experienced were viewed by a parade of doctors as panic attacks. It wasn't until she experienced a crisis in 2002 that this Florida resident was informed she had pulmonary insufficiency that had gone undetected for decades. Not sure of where to go, Ray, a New York native, returned to the pediatric cardiologist who treated her when she was four. While there, she underwent surgery, receiving a new pulmonary valve to reduce the strain on the right side of her heart.

Back in Florida, Ray continued to have chest pain, and a local emergency room referred her to Mayo Clinic in Florida, where she saw cardiologist Dr. Keith Oken and a cardiothoracic surgeon who finally fixed the problems associated with the original surgery.

Oken also advised Ray that she needed the help of an adult congenital heart specialist — a specialist Ray had never known existed — and he referred her to a colleague at Mayo Clinic in Minnesota. Finally, after decades of searching, Ray had found doctors who really understood her heart.

"It is not an uncommon story," says Oken. "A number of people are surprised to learn that they have residual issues from the surgery they had as children that they thought was curative. "Then, as problems develop, many people have difficulty finding the right doctor for them," he says. "The traditional training of a cardiologist treating adults does not provide the expertise needed to treat adults with congenital heart defects."

"I finally learned the true nature of my anatomy," says Ray.

She has a lot of company. Heart defects are the most common birth defects and are diagnosed in about one of 120 newborns, according to the Adult Congenital Heart Association (ACHA). There are now more adults (1 million in the United States) than children with heart abnormalities, and half of the defects in adults are complex. While there are more than 30 different types of defects, Ray has the most common complex one. Known as tetralogy of Fallot, it involves four heart malformations that occur together.

Still, Ray never knew that her heart defect wasn't fully repaired when she was a child; that the operations seen as innovative then were not yet perfected, and that survivors have an increased risk of developing additional heart problems. "Most adults are disappointingly unaware that the corrective surgery they had as children is no longer considered a cure, and that they have residual heart problems that even the very best adult cardiologists are not trained to detect," she says. "I am one of the lucky ones. I stumbled across the information online. There are so many others who never find it."

Ray learned much of what she now knows about care of adult congenital heart disease from ACHA, the only organization of its kind, which works directly with adults with heart defects and their families as well as the medical community to address unmet needs. They have designated centers of regional excellence, of which Mayo Clinic in Minnesota is one, recognizing the few cardiologists who treat adult congenital heart defects.

"Adults living with congenital heart defects are no longer considered an orphan group in medicine," Oken says. "Their numbers are three times higher than children diagnosed with cancer, and many are surviving to adulthood. Yet specialist care has not caught up with their needs." Ray, now 36, is grateful for ACHA and the physicians at Mayo, she says. And when she's not caring for her two daughters, ages 8 and 2, she is kick-boxing, doing photography and advocating for others.

A former board member for ACHA, Ray now serves as the Southeast regional ambassador for the association and is launching a local support group. She has even taken her story to Washington, D.C., to lobby for federal funding for congenital heart defect research and was instrumental in having February 7-14 named as Congenital Heart Defect Awareness Week in her hometown of Jacksonville, Fla.

"The proper care means the difference between preserving a patient's heart muscle function or not," Ray says.

She knows her heart will never be fixed; that the enlargement that resulted from years of living with a faulty pulmonary valve is permanent. "That gives me more of an incentive to educate others about the need for lifelong care by a specialist who understands adult congenital heart issues," she says. "We are all grateful for our chance to live and want to continue to enjoy what we have been given."