On the hit television show Royal Pains, actor Mark Feuerstein plays the role of Dr. Hank Lawson, a physician with the innate ability to solve the most baffling medical mysteries. Yet even the research and preparation it takes to portray such a savvy doctor didn't prepare Mark for the real-life drama he experienced when his infant daughter, Adelaide, was diagnosed with a congenital heart defect.
“Playing a doctor on television didn't help when Addie got sick,” Mark says. “It simply made me realize how far I am from being an actual doctor.”
Born in September 2009, Addie showed signs of being a fussy baby. She cried a lot, especially when she ate, and failed to gain weight. A doctor ultimately diagnosed Addie with reflux, a common condition that occurs when stomach contents back up into the esophagus during or after a meal. Since more than half of all infants experience reflux in the first three months of life, Mark and his wife, television producer and writer Dana Klein, weren't initially concerned.
“I lived in the naive hope that our doctor was right when she diagnosed Addie with reflux,” Mark says. “When Addie didn't immediately start to improve, I remember telling my wife that the [medicine they gave Addie to treat reflux] probably just needed time to take effect.”
Although the medicine did ease Addie's reflux somewhat, their daughter still wasn't gaining weight. She was also having difficulty eating and would often sweat profusely.
“She would scream and cry after feedings,” Dana says. “To see her like that and not be able to help her was so hard.”
Despite not knowing the cause of her daughter's distress, Dana kept searching for answers, becoming more concerned as their daughter began to exhibit even more worrisome symptoms.
“Dana was just rigorous,” Mark says. “While hope and belief are great, so is a second opinion, and that's where Dana was unflagging. She didn't stop at the pediatrician who said it was reflux, she kept going to doctor after doctor until she got answers.”
A DIAGNOSIS AND SURGERY
On one of those doctor visits, Addie was given an electrocardiogram that detected irregularities with her heart. She was immediately taken to Children's Hospital in Los Angeles, where subsequent tests revealed that Addie suffered from ALCAPA, or anomalous left coronary from the pulmonary artery, a rare and potentially fatal congenital heart defect found in less than 1 out of every 10,000 live births in the United States. ALCAPA occurs as a result of the left coronary artery forming abnormally. Instead of connecting to the aorta, as it does in a normal heart, it connects to the pulmonary artery. This results in blood with low oxygen going directly to the heart muscle, rather than going through the lungs first.
The diagnosis of ALCAPA is sometimes difficult because it often presents with atypical signs and symptoms. In addition to colic-type symptoms, signs of ALCAPA can include more sleepiness than normal, poor growth, profuse sweating, panting, and a heart murmur.
Mark and his wife, D...Image Tools
“The condition was so rare it wasn't on our radar at all,” Mark says. “In hindsight, I wish we had done a pulse oximetry screening for newborns, but it's not a standard procedure, and wasn't even suggested when Addie was born.” (For more information on congenital heart defects, visit heartinsight.com to read our online-only bonus article, “Congenital heart defects in infants.”) However, since Addie's condition resulted in deoxygenated blood being delivered only to her heart muscle, not to her entire body, pulse oximetry may not have helped speed her diagnosis.
Pulse oximetry is a simple bedside test to determine the amount of oxygen in a baby's blood and the baby's pulse rate. Low levels of oxygen in the blood may be a sign of a critical congenital heart defect and require additional testing. In 2011, critical congenital heart defects were added to the Recommended Uniform Screening Panel (RUSP), or newborn screening recommendations that are used in most of the 50 states. Parents have the option of requesting additional screening for their child if they are concerned about a specific condition not being screened for in their state.
But RUSP is simply a recommendation. States still need to require hospitals to perform pulse oximetry screenings on all newborns. States across the country are beginning to enact legislation requiring hospitals to provide newborn screening for congenital heart defects.
Patient advocacy groups have been successful in several states with parent advocates speaking out for this lifesaving screening. For more on how to get involved, visit yourethecure.org.
Catherine L. Webb, M.D., M.S. pediatric cardiologist and professor of Pediatrics and Communicable Diseases at the University of Michigan Medical School, says she often finds herself reassuring parents after their babies are diagnosed with a congenital heart defect like ALCAPA.
“I always make a point of telling parents their baby's congenital heart defect isn't a result of something they did or didn't do during the pregnancy,” Webb says. “They often feel tremendous guilt and yet there's nothing they could have done to prevent their child's heart defect.”
Addie underwent open-heart surgery in March 2010 to fix her congenital heart defect. In a normally functioning heart, the left coronary artery connects to the aorta and feeds oxygenated blood to the heart muscle. In the congenital heart defect ALCAPA, the left coronary artery is misplaced and the heart muscle receives de-oxygenated blood from the pulmonary artery. Without enough oxygen, Addie's heart muscle was severely compromised and the heart could not pump blood vigorously. Therefore there was not enough blood flow coming out of the heart and her mitral valve (a valve inside her heart) functioned poorly. Yet the surgery itself also posed certain risks, and both Mark and Dana worried about their daughter's future.
“I was very scared,” Dana admits. And while Mark was there for the surgery, he had to return to New York to finish filming his television show. It was a difficult time for the family, especially when Addie failed to thrive after the surgery.
“Being in New York, shooting Royal Pains, while Addie was in Children's Hospital was the hardest time of my life,” Mark says. “It's already a helpless feeling when your child is sick, but add to that being three thousand miles away and it's torture. I flew home every weekend to be with my family.”
Mark found solace in Dana's texts and phone calls and Dana received additional support from her mom and aunt who came out from New York and Boston, respectively, to help care for their other two children.
“I had many friends who dropped off dinners for us when Addie was in the hospital, and it was so nice because it made cooking dinner one less thing to worry about,” Dana says.
The days after Addie's initial surgery turned to weeks, and it became hard for Mark and Dana to remain positive.
“She wasn't getting better,” Mark says. “When you don't get good news for days and weeks on end it's dispiriting. It was one step forward and two steps back, and that was hard to take.”
After a surgery like Addie's, the heart muscle needs time to recover from not having received enough oxygen, so even after surgical repair of ALCAPA a child may not recover quickly. He or she may not grow well until the heart muscle is finally able over time to contract normally. And if the mitral valve does not recover well, additional surgery may be necessary.
Suspecting that Addie's mitral valve was the culprit in her poor recovery, Addie's cardiologist recommended a second surgery in May 2010 to fix it. He explained to Mark and Dana that when the heart muscle supporting the mitral valve is seriously damaged from decreased oxygen, babies sometimes need a second surgery to repair or replace the valve. The mitral valve regulates blood flow between the chambers on the left side of the heart.
“We were told the odds of her surviving the second surgery were 80/20 and the odds of him having to use something other than her own tissue, like an artificial valve, were 50/50,” Mark says. “We are so blessed that he was able to fix the valve with her own tissue and that within a week to two weeks after surgery, Addie started going off her meds.”
A LINE OF COURAGE
Marks stars in the h...Image Tools
The surgery was a success, and Addie was able to return home after spending a total 89 days in the hospital. On her first birthday, Mark and Dana invited her caregivers from the hospital to a party to celebrate Addie's recovery.
“Dr. Vaughn Starnes, chief of the Division of Cardiothoracic Surgery, Dr. David Ferry, cardiologist, and the nurses of the Cardiothoracic Intensive Care Unit at Children's Hospital and all the doctors and nurses who wake up every morning and go save lives are all saints,” Mark says. “Our gratitude for the life of our little miracle, Addie, knows no bounds—we are forever indebted to the staff at Children's Hospital in Los Angeles.”
Today, Addie, age 4, loves nothing more than playing with her older siblings, Lila, 6, and Frisco, 5. Running around in the backyard of her Los Angeles home, it's hard to imagine that the beautiful toddler with the contagious smile was ever critically ill.
“She's doing great,” Dana says. “She still goes in to see the cardiologist every six months, and we've explained that she had surgery when she was a baby, but that she's all better now. We tell her the scar on her chest is her line of courage.”
And while their daughter continues to thrive, Mark and Dana hope to inspire other families.
“I took a lot of photos and videos of Addie's journey that I want to share with other parents who have kids born with ALCAPA or other cardiac conditions,” Mark says. “Our hope is they might watch and see that as scary as it looks, there really can be a happy outcome.”