All photos courtesy of Annie Kersch
It was 6 a.m. on a Sunday morning in July when Annie Kersch woke up unusually well-rested for the mother of a 15-month-old and a six-week-old, because her husband, Sergio Garcia, had taken their newborn daughter Ariana into the other room for most of the night so she could catch up on her sleep.
“I was pretty sleep-deprived like all moms of infants, but very happy,” says Annie, who is also mom to Hugo, 20 months. “Ari was eating and sleeping pretty well, and everything looked good at all of our postnatal checkups.”
But that feeling of contentment was short-lived after Annie heard her daughter’s strange cry.
“It was a sort of a listless mewing noise she hadn’t made before,” she tells Yahoo Parenting. “I got up right away because I thought she must be hungry but when I went in the room, my husband said, ‘She’s been like this all night.’”
Annie strapped Ari into her baby carrier and hopped in a taxi to the nearest hospital in Madrid, Spain, where the family (originally from Texas) now lives. When she walked in she found a table full of people wearing scrubs.
“They stopped talking as soon as I said, ‘My daughter’s not breathing well,’” Annie recalls. For a second it was silent, as everyone listened to Ari’s raspy, mewing sounds.
Then, before Annie had time to understand what was happening, Ari’s tiny body was strapped to an adult-size gurney and sixteen doctors and nurses surrounded her.
“In my head, I started going through the list of possible problems,” Annie says now. She and Sergio both have allergies and newborns have a hard time sneezing, so she thought the problem might be as simple as a really bad stuffy nose.
It ended up being much more serious, though: “Congenital heart defect wasn’t even on my checklist,” Annie admits.
Hours later — long after the hospital had run numerous tests, tried to stabilize Ari with oxygen, and then transferred her to a more specialized hospital across town — a surgeon sat down with the couple and explained: Ari was born with a type of critical congenital heart disease (CCHD) known as Transposition of the Great Arteries (TGA), which means the aorta and the pulmonary artery, which are the two main arteries that pump blood out of the human heart, had flipped positions. In a normal heart, blood returning to the heart from the body is pumped from the right side of the heart through the pulmonary artery to the lungs, where it picks up oxygen. Then that blood returns to the left side of the heart where the aorta pumps it back out to the body. But in Ari’s heart, all of the blood coming back from her body was bypassing her lungs and pumping straight back out to her body — without picking up the crucial oxygen molecules it needs to keep her body functioning properly.
All newborns are born with certain holes in their hearts that help them function in utero and allowed Ari to survive for five weeks. But when those holes began to close up, her condition became critical.
Fewer than 2,000 babies are born with TGA each year in the United States and nobody knows what causes the condition. Annie’s pregnancy was normal, an amniocentesis (performed because Annie is 36) came back negative, and several prenatal ultrasounds failed to detect the problem.
But if Ari had received a simple newborn screening known as a pulse oximetry or “pulse ox” test, her condition might have been identified at birth — weeks before she became so dangerously ill.
The pulse ox test is noninvasive, takes fewer than 10 minutes, and costs less than $15 per baby, but isn’t required on every baby born in Spain and has only been part of the federally recommended newborn screening panel in the United States since 2011.
Whether that federal recommendation gets followed varies by state and even by hospital. At least 10 states have yet to require the test as of October 2014 and even those that have don’t always enforce it. (Find out what your state does here.) And because Annie’s pregnancy was low-risk, Ari was born at home, where pulse ox tests are even less likely to be performed. (Some states do require homebirth midwives to perform the test but enforcement is difficult.)
Fortunately, Annie brought Ari to the ER in the nick of time and a pediatric cardiologist was able to perform a balloon catheterization to stabilize Ari. But she has had to undergo two open-heart surgeries to keep her heart functioning and put her aorta and pulmonary artery back into their proper places.
And during the battery of tests that are run on babies under these circumstances, Annie and Sergio received even more devastating news: A CAT scan showed that at some point during the first six weeks of her life, Ari suffered a brain hemorrhage as a result of her plummeting oxygen levels — leaving about a quarter of her left frontal lobe effectively dead. That kind of brain damage can impact the development of motor skills and cognitive function and even cause epilepsy, though physical therapy and medications may help.
“It will be a few years before we know much about the state of Ari’s brain,” says Annie. “And every time I think about what we’ve gone through and the fact that Ari now has permanent brain damage as a result of this ‘oversight,’ I get furious.”
Still, Annie knows that their family is one of the lucky ones. At least 1200 babies go home from the hospital with an undiagnosed critical congenital heart defect each year, according to the Centers for Disease Control.
And for every 200 babies born with CCHD, at least one death could be avoided if all babies received the pulse oximetry screening at birth.
“If we hadn’t gotten to the ER when we did, if we hadn’t landed an incredible heart surgeon … despite everything, our warrior princess had a tremendous amount of luck and I believe our story unfolded the way it did for a reason,” says Annie today. “I’ve always known my kids were one in a million and now, with Ari, I have literal proof.”
From left: Sergio Garcia; Ariana, 5 months; Annie Kersch; Hugo, who is now 20 months