Getting to the Heart of a Rare Genetic Condition

A rare genetic condition meant a lot of uncertainty for an unborn baby. A multispecialty Stanford Medicine Children’s Health team came together to find answers.

Alyssa and Justin Prettyman decided to have their third child a few years after moving to California from Boston in 2017. Having given birth to her first two children in major East Coast hospitals, Alyssa was looking forward to a quiet, natural birthing experience with local midwives. But her expectations took a sharp turn when she was five months along and an ultrasound revealed that her baby, Nya, had a heart condition. Alyssa was told that her daughter might need surgery immediately after being born. “When that happens, you want to go to the best of the best, so we transferred care to Stanford [Children’s] immediately. We got an appointment that afternoon.”

Grappling with unknowns

At Stanford Medicine Children’s Health, Alyssa had a fetal echocardiogram performed that confirmed that the left-side structures of Nya’s heart were significantly smaller than the right. As is always the case when a baby is diagnosed with a complex congenital heart condition prenatally at Stanford Children’s Health, specialists who would be involved both before and after the baby’s birth joined the Prettymans’ Fetal and Pregnancy Health Program team to meet with one another and to talk with the family, including fetal cardiologists, maternal-fetal medicine specialists, neonatologists, genetic counselors, and pediatric cardiologists.

Since Nya’s condition likely required heart surgery, this team included renowned heart surgeon Frank Hanley, MD, chief of pediatric heart surgery at Stanford Children’s Health’s Betty Irene Moore Children’s Heart Center. “Nya’s left and right heart structures weren’t equal in size. Despite this, the smaller, left-side heart structures aren’t an issue before birth, since the bigger side compensates for the smaller side, and the baby’s circulation isn’t negatively impacted,” says Dr. Hanley. But that can radically change at birth when the umbilical cord is cut, and the left and right sides need to work independently. “If one side can’t do its job, the baby will get unstable, and it can be fatal, which is why we need to intervene—sometimes aggressively—in the first few days of life.”

The Stanford Children’s multispecialty team did extensive testing to get more information on Nya’s condition, including a fetal MRI to obtain full, detailed imaging of her brain, rather than just focus on her heart and lungs. Besides the known heart defect, tests revealed lesions in Nya’s brain and a slight abnormality in her gut. Courtney Wusthoff, MD, from neonatal neurology, and geneticist David Stevenson, MD, were brought in to consult with the mom’s and baby’s core heart team. Based on the unique constellation of cardiac and brain findings in fetal imaging, “we suspected an FLNA-related disorder,” says Dr. Stevenson.

While it was clear that the left-sided structures of Nya’s heart was small, it wasn’t clear just how much of a problem that would be, since there’s a huge spectrum of severity that can’t be known until after the baby is born. This is due to imaging challenges and the fact that a baby’s circulation changes to being lung-dependent after birth—the moment of truth. So, the team needed to prepare themselves, and Alyssa and Justin (Nya’s dad), for the range of scenarios that could happen after Nya was born, including the possibility of an urgent, risky heart operation.

However, there was some good news for Alyssa and Justin from the neurological side. “I told them that severe neurological disability is not common with this genetic condition and perhaps was one less thing to worry about as they headed into the care needed after delivery,” says Dr. Wusthoff.

Clear communications—and compassion

“There’s a huge amount of uncertainty with filamin A (FLNA) and these kinds of cardiac findings,” says fetal cardiologist Michelle Kaplinski, MD. “It’s never black-and-white, and sometimes these diseases don’t develop until a few weeks or months after birth, so it can be challenging to counsel parents through these situations. Some families are more comfortable with uncertainty, and others want more information, and to know every potential outcome, and the implications,” she says. “Alyssa was incredibly stoic, and she is just such a force. In later counseling sessions, she didn’t want to focus on the spectrum of possibilities, and instead wanted to focus on the positives and on the present.”

“It was the hardest time in my life,” says Alyssa. “Having multiple tests weekly, getting terrible news, crying all the time, and just not knowing.” She and Justin needed to explain to their sons what was happening, and they took a straightforward approach similar to the one that the doctors had taken with them. “We try to be honest with our children, and we do a good job of telling them information without it being scary—so they feel empowered but not paralyzed with fear.”

Susan Hintz, MD, director of the Fetal and Pregnancy Health Program at Stanford Children’s, has counseled families like the Prettymans throughout the pregnancy, and after birth as well—often through ICU stays, surgery, recovery, and follow-up care. “It’s important to be honest with families, and to share all that we know and all that we don’t know, and to support them in their goals,” she says. For Alyssa, it was important to have a positive birth experience and to have time with her baby in the delivery room. “Trying to have skin-to-skin contact and breastfeeding were important to her; our responsibility to the patient and family are not just about the medical viewpoint and explaining extremely complex findings,” says Dr. Hintz. “It is also about having an understanding of their goals and doing our best to help meet those goals.”

A good beginning

There was a fair amount of uncertainty about what would need to be done to help Nya’s heart, and when, in the moments, days, weeks, and months after she was born. Many important steps needed to be taken based on the prenatal discoveries, including planning for an echocardiogram to be taken right after Nya was born, preparing the Neonatal Intensive Care Unit (NICU) and Moore Children’s Heart Center teams at Stanford Children’s for the possibility of providing urgent care, and getting medications ready. “Without knowing as much as possible prenatally and communicating broadly with the care teams, there could be delays that could have very serious consequences for a child,” says Dr. Hintz. “Dozens of nurses, nurse practitioners, and physicians need to be prepared and ready to mobilize 24/7.”

Alyssa was able to reach 36 weeks’ gestation. She adamantly wanted to avoid a C-section, have as natural a birth as possible, and be able to hold Nya. “It turned out to be an incredible birthing team,” says Alyssa. “One nurse stayed well past her shift, and there was a midwife who was very empowering. I wanted to be around strong, confident women, and I felt I got to experience some of that.” Instead of feeling terrified, Alyssa felt excited and proud of herself. She was able to cuddle Nya on her chest for eight minutes as the medical team watched carefully to make sure Nya was stable.

“It’s important to remember that just because a baby’s anatomy is complex doesn’t mean that there will be an immediate issue,” says Dr. Hintz. “Having a highly skilled neonatology team in the delivery room means that we can do the initial assessment to see if mom can spend those minutes with her baby, while constantly assessing to determine if we need to rapidly bring the baby to the NICU.”

The team watched minute by minute to look for Nya’s cues to determine what would need to be done surgically. It wasn’t clear from tests if the left-side heart structures would be adequate or if the team would need to do immediate heart surgery. Another MRI—this time performed on Nya, after birth—proved to be extremely helpful. It showed that Nya was a little unstable and that there was a large amount of blood flowing across the ductus arteriosus (an opening between the two major blood vessels) in the wrong direction, causing pulmonary hypertension. While it indicated a potentially serious problem, they didn’t have to rush her into heart surgery.

Heart surgery and sunlight

Nya had heart surgery two weeks after she was born to close the ductus arteriosus and another hole between the two atrial chambers. The multispecialty medical team carefully timed the procedure to allow time for Nya’s organs to mature before heart surgery. The time also allowed them to collect extensive information about her heart, lungs, brain, and GI (gastrointestinal) system so they knew what type of surgical procedure would be most effective.

“The complexity of her case wasn’t the technical nature of the heart surgery itself,” says Dr. Hanley, Nya’s heart surgeon. “It was the planning and strategizing about how to go about the heart surgery prenatally and in the days after Nya’s birth.” Heart Center team members such as Dr. Hanley were heavily involved, along with pediatric cardiologists, cardiovascular intensive care doctors, and cardiac imaging doctors, whose interpretations of the tests were critical. “All of the links in the chain were there,” he says.

Nya also had GI surgery when she was 6 weeks old to give her a temporary G-tube, to help with feeding.

During Nya’s next two months in the NICU, followed by a stay on another floor of the hospital, Alyssa again looked for ways to normalize and naturalize what was transpiring. With nurses’ help, she decorated her daughter’s hospital room on Valentine’s Day, made prints of Nya’s feet, and gathered resources for Nya’s brothers to show them what was happening in their sister’s life at the hospital. As the medical team worked to wean Nya off of a breathing tube after surgery and then oxygen support, Alyssa realized that at 6 weeks old, Nya had never seen the sun or taken a breath of fresh air outside the NICU. She asked the medical team if they could help her safely take her daughter out into the sunshine, and they did. “If you ask for support in creating your new normal, lots of people come to the table and try to help,” she says.

Getting off the roller coaster

Today, Nya is a happy 15-month-old baby, at home with her parents and brothers. “She’s doing so well—so curious, adorable,” says Dr. Kaplinski, who continues to follow Nya as an outpatient, along with her neurology, GI, and geneticist colleagues. “She’s very expressive at this age, and you can tell she wants to communicate—she is a joy.” Dr. Hanley has also been pleased at Nya’s smooth recovery, saying that she should have a typical life expectancy without the need for further heart surgery. “Nya has broken all expectations, and she’s blowing us away with how successful, intelligent, and normal she is,” says Alyssa. Nya is eating by mouth and meeting most milestones. And Alyssa is still focusing on the present. “I try not to live life with heavy expectations,” she says. “I try to accept every moment I have with her with gratitude, like being able to hold her and feel her heartbeat and hear her breath—I’m grateful.”