A few weeks ago, our family gathered for a meeting that we hope will save my sister's life. Our goal was to demonstrate to a hospital social worker that we could take care of her should she get a heart transplant.
My sister Sara is now 50. (NPR isn't using her last name to protect her medical privacy.) For her to get on the transplant list, her anatomy needed to be suitable and her antibody levels low despite prior surgeries. She had to show that she could withstand the grueling transplant process; that she could consistently take her anti-rejection medications; didn't abuse drugs or alcohol; and had a stable home life.
A heart transplant costs about $1.4 million, according to data from the actuarial firm Milliman. And there aren't enough hearts to go around.
Sara had to show that she could pay for three months of living near the hospital for the daily checkups and weekly heart biopsies, as well as the anti-rejection medications she would need daily for the rest of her life.
My sister has the most gallant heart of anybody I know. But her patched up heart has been slowly failing over the last three to four years.
She was born a "blue baby" in 1967 with transposition of the great arteries, a relatively common but serious heart defect, which deprived her body of oxygenated blood. In a procedure called a Blalock-Taussig shunt, her doctors made a small hole in her heart to allow oxygenated blood to mix with the other blood in her body. At that point, that was the only option. The doctors told our mother to keep her alive until they improved surgical techniques enough to operate again.
She was a spindly toddler with purple lips and fingertips. During those years, she couldn't do much, and we would pull her around in a red Radio Flyer wagon. In 1972, when Sara was a kindergartner, surgeons performed a Mustard procedure, attempting to reroute her blood flow. It was an incomplete fix, but her lips and fingers turned pink. Of the three cardiac surgeries performed in the hospital that week, she was the only child to survive.
According to the Centers for Disease Control and Prevention, 1 percent of children, about 40,000 babies, are born with congenital heart defects a year in the U.S., ranging from simple conditions that don't even need surgery to life-threatening problems like my sister's. "It is the No. 1 birth defect," says Dr. Michael Landzberg, director of the Boston Adult Congenital Heart program. Out of those children with a congenital heart problem, an estimated 5 to 7 percent — about 1,250 babies a year — are born with some variation of transposition, like my sister.
According to Landzberg, because of improved medical care, by the 1980s and 1990s more children with serious congenital heart disease were surviving to adulthood. Programs sprouted at major medical centers to provide specialized care and train doctors to deal with this growing population with complex medical needs, who also needed to deal with finding insurance and employment, having children or simply finding a swimsuit that hid the surgical scars.
A few years ago, I had the opportunity to interview Landzberg in his tiny office filled with textbooks. He thought I looked familiar. We had never met; it was my sister he remembered. She and her husband had consulted with him to ask if it would be safe for her to become pregnant.
I told him that her son was a middle schooler now. Landzberg's face lit up.
Landzberg advocates lifetime follow-up for all children born with congenital heart disease. About half only need occasional checkups by their physician under the guidance of an adult congenital heart disease specialist, he says, but the rest need to be monitored more frequently directly by a specialist.
Landzberg noted that between the ages of 18 and 25, these patients' mortality risk due to their hearts' anatomical limitations may double or even quadruple, depending upon the severity of their condition. Increasing age intensifies the effect on the heart and body of physiological stressors such as growth spurts, exercise and pregnancy, as well as infections, surgeries and other diseases.
A heart that works inefficiently eventually also damages other organs, so by middle age, a patient with severe problems can be biologically like someone 20 to 30 years older. And eventually, for patients like my sister, the heart itself can start failing.
"While we can't control how we were born, how we live — how much exercise we get, our diet — can make a difference in our health," Landzberg said, his face compassionate. "You don't have to be a heart patient with a complex condition — it works that way for the rest of us as well."
As my sister entered college, accumulating scar tissue started causing her heart to beat irregularly. When she sat quietly, her heart would race to 140 beats per minute. When she slept, it would drop to 11 beats per minute.
"I always felt really tired and drained," she recalls. "When my heart would go into fast rhythm, I would have to go to the emergency room. They would sedate me and then electrocardiovert my heart back to normal rhythm. I finally received a pacemaker and was put on medication to control the arrhythmia." She is now on her sixth pacemaker.
"It was more than a little emotionally taxing to face mortality at age 19 and then plan out your life if you were not sure you would be around." she says. My sister was lucky enough to find a profession she loved and worked until this year, when her doctors told her to stop.
There may be a few dozens of people around the world with my sister's condition who are her age and older, according to an informal poll some transposition patients took of themselves on Facebook. They cheer each other on birthdays, and their doctors follow them and hope that what they learn can help other patients. My sister intends to continue confounding expectations.
Adults with congenital heart disease are a tiny percentage of the total adult heart transplant population, about 3 percent, according to Dr. Jon Kobashigawa, director of the heart transplant program at Cedars-Sinai in Los Angeles.
But that's changing as people's hearts age. "The number of ACHD heart transplant recipients is growing rapidly, with a 40 percent increase over the last two decades," Dr. Luke Burchill, an assistant professor of medicine at Oregon Health Sciences University, wrote in an email.
He noted that the probability of heart failure depends upon the type of heart defect, but can affect about half of patients with tetralogy of Fallot and 30 percent of transposition patients who have received Mustard/Senning repairs.
I just rechecked that my organ donor card is current. When I go, maybe a part of me can help someone else.
My little sister called me the other day, relief in her voice. She got listed. There are people in line ahead of her in her transplant region, but she just needs to stay alive until that phone call comes.
Wendy Wolfson is a science writer in Orange County, Calif.