Finding out at birth and later in life

She was diagnosed at birth. When she was a day old they heard a murmur and they brought her up to the NICU and then they just kept her up there. So when she didn’t come back to me for a while, I knew that something was not right because my other children—I have two other children and they both had murmurs when they were born and they came right back. So they kept her there all day, and then I didn’t find out until many hours later after the doctors from Children’s came over to evaluate her and tell me they were transferring her to Children’s.

 – Erica, mother of Isabelle, age 5, Anomalous Aortic Valve


We actually found out about 12 hours after he was born, we kind of noticed that something was wrong. His hands were very dusky and we were being told that it was pretty typical after birth, but it never went away—we were reassured that it was normal. Then about 12 hours after he was born, he went into respiratory distress while feeding, and he was transferred to a larger hospital where he was diagnosed. We were there for about a day, and we actually were fortunate enough to have online resources to look up that Boston was potentially one of the best places for him to be.

 – Abigail, mother of Johnny, age 9, HLHS


Diagnosed later in life

At her six month appointment they heard it again, and then at nine months they didn’t, it back and forth. I adore our pediatrician, she was keeping an eye on it, but at the same time saying, “Don’t worry. The fact that we don’t hear it every time is a great sign.” At her 16 month appointment she heard it again, and she said, “I still hear the murmur and rather than having it hanging over you, why don’t we just get it checked off and send you to a cardiologist.”

The cardiologist said, “I can hear a murmur, but I can’t place it. Let me go grab another doctor.” She grabbed another doctor, and he said the same thing, and they listened for a long time. Meanwhile, I went in not worrying about a thing, just treating it like a routine something or other. But with more of these longer listens and serious faces, my heart was starting to race. She said “Okay, the EKG looks good and I don’t think we have any reason to worry, we just want to take a few quick pictures via echocardiogram.” She did the echo and Avery and I are waiting in the room, and waiting and waiting and every minute that passed I was like, “Oh God, this can’t be good. Why is it taking so long?” And the doctor walked in, she said “She did GREAT” and my heart just dropped, like “Oh God, a compliment is never going to be a good sign.” She said “But we did find a very large hole and it will need to be corrected. It’s called an atrial septal defect, an ASD.” I had never heard of any of these things.

 – Jessica, mother of Avery, age 2, ASD


We had our 18 month checkup with Serena when our pediatrician noticed a murmur. She didn’t make a big deal out of it, just “I heard this, you should get it checked out.” So we went to a cardiologist near us and they did discover that there was a hole in her heart. After that appointment, we were just trying to navigate all the different potential solutions. At some point along the way, we decided to go up to Boston to get a second opinion, and that’s kind of what led us to the whole process at Children’s.

 – Allen, father of Serena, age 2, ASD


We first learned that Zach had a heart defect when he was two days old. I was in the hospital for weeks because I went into premature labor, and I had twins, so I had ultrasounds every day, and it’s something that could have been detected, but they didn’t. The only reason we detected it at two days old with Zach is because his pediatrician who came to assess him in the hospital heard a heart murmur and asked for an echo. It was at that echo that they realized he was born with single ventricle.

 – Alice, mother of Zach, age 3, Single Ventricle


Nick: We were at home in Bermuda, it was our first check-up, I think she was seven days old. That was the first time we knew of any complications.

Shana: There was a heart murmur, so the doctor sent us for tests, and I guess during the echo it was sort of strange—the appointment was at 11 am, and we were still there at 4 pm, like they were just trying to find out what the deal was, and then when we were leaving, the doctor called us back and said, “I just spoke to her pediatrician and we want you to take Jade to the emergency room.” We went straight from his office over to the emergency hospital, and less than two hours later they told us they needed to take her by air ambulance to a bigger hospital and that was it! Seven days old. Didn’t know what was going on. I mean he didn’t get into detail in Bermuda, just that they heard something that wasn’t normal and they were going to air ambulance out.

Nick: At 2:59 AM a team of nurses came to Bermuda Hospital and off to Boston they went. Off the plane, into an ambulance, straight onto the highway, her and her mother, and I came up the following day on a commercial flight. We knew there was some things that wasn’t looking good with the heart, we didn’t know the extent of it. Once we got here, they explained to us what they had found and the congenital heart disease that she was experiencing and then somebody gave us a little overview, told us about the different defects that she has and that was all new to us. I had never even heard of anything like this before that day.

 – Nick and Shana, parents of Jade, age 6, Dextrocardia


I found out when he was two days old. I had no idea at all that he had a heart defect. I was 39, but by the time I delivered I’d be 40, so I was considered high-risk. The amnio was fine, everything looked great, so my doctor cancelled my level two ultrasound, which would have shown that there was a problem with his heart. He wasn’t feeding well, and he ended up in the level two nursery. They listened to his heart several times since he was born and never picked up a murmur. But late in that second day, the pediatrician was listening and she said “I hear a little something, it very well could be normal, but let’s get it checked.”

They did the echocardiogram, and I remember walking into the level two nursery to see him and he had all kinds of monitors hooked up to him. Nobody had said anything to me, and I’m like “What is all this for? Why does he have all this stuff on him?” And the nurses didn’t answer me. I knew something was going on, and they went and got the doctor that happened to be on that morning. I’m looking at the doctor and he couldn’t even make eye contact with me. He’s telling me, “Your baby is very, very sick, his heart didn’t fully develop.” And he’s giving me the news as if my baby’s not going to survive.

When we got to Children’s, the doctor was doing the echo and I said to her, “They told us at the other hospital that he has no pulmonary valve. Is that true?” And she turned around and she looked at me and she goes, “No, he doesn’t have a pulmonary valve, but he will.” And it was the first sign of, “my baby has a chance.” Up until that point, it was almost presented like there was no hope. We finally had some level of hope knowing that they might be able to save him.

 – Grace, mother of Austin, age 10, TOF


I first learned about it three days after she was born. She looked the picture of health but they looked because they knew I have cardiomyopathy and they knew my son had the gene. So they just went ahead and did an echo at 23 hours old and that’s when they saw it.

 – Dana, mother of Raegan, age 11, Cardiomyopathy with a Pacemaker


She was an infant, it was a heart murmur is what they said. They thought it was aortic stenosis. From there they monitored her and at first it was mild and it progressively got worse as she got older. It was something she didn’t know about until she was maybe 8, 9 or 10. She would just go—it was just another doctor. They would do an echo and she didn’t care what it was. She didn’t have any symptoms either—I guess we just weren’t too surprised, we didn’t really think much would come of it. We knew she’d to have surgery at some point but we were more on the thinking the 20 to 30 year frame. But then it accelerated a lot quicker.

 – Paul, father of Sierra, age 13, Anomalous Aortic Valve


When she was six years old, she suffered a sudden cardiac arrest while she was in gym class at school. She’s been since diagnosed with a genetic disorder called catecholaminergic polymorphic ventricular arrhythmia, CPVT. Because the disorder that she has, 99% of the time it first shows itself as cardiac arrest, there’s no prior warning. It’s not something that people would be tested for, and it’s not even necessarily something that would even show up on an EKG.

I was at home and I got a phone call—that dreaded phone call no parent wants to get, “Your child has collapsed at school, it’s very serious, we’ve called the emergency services, we want you to come straight down to school.” I live ten minutes away, so I drove down to the school. She’s lying on the gym floor, she’s still unconscious, but they’ve used the defibrillator to get her heart rate back. She’s still unconscious at that point, but they eventually move her into the ambulance, and she was due to come to the Boston Children’s, but the ambulance person said she wouldn’t make it that far, they wouldn’t be able to keep her stable enough, she wouldn’t survive the trip down to the Children’s, so they took her to a closer hospital instead. They took us straight into the ER. They eventually stabilized her enough where they said, “We’re now going to take her for an MRI to see brain activity.” She was initially down, they think for about seven minutes. On the way to the MRI, she had a second cardiac arrest, at which point the nurse did CPR on her again, used a defibrillator, stabilized her again, and they took her straight directly to the PICU where at that point they put her into a drug induced coma.

She was in a drug induced coma for almost a week. They said, “It’s time for us to take her off the incubator,” which was actually probably one of the scariest things. They said “You need to step outside the room for this. If she can’t breathe by herself, if she can’t swallow by herself, we need to intubate her straight away again, and from there we’ll make a decision on what’s the best thing to do.” Myself and my wife are sitting outside the room for five minutes, it feels like five days, they come out and they say “She’s breathing. She’s fine. She’s awake and she’s breathing.”

At that point, we go back into the room, of course she has no idea of anything, what’s happened to her. Her last memory before the event was me driving her to school, and it was Friday the 13th and we had this discussion about is Friday the 13th unlucky or lucky. And we’re still out on that—we don’t know if it was lucky or unlucky. Lucky she survived, unlucky this happened to her.

 – Jim, father of Chloe, age 13, CPVT


He was 17, very active, very healthy appearing, avid soccer player, avid skier, hiked Mount Katahdin, so it was shocking. We were sent to a cardiologist because his primary care doc had seen him just for a physical and his blood pressure was pretty erratic- low, high, low, so she thought we should see a cardiologist. So we thought we were going for a simple visit, probably for him to be told to eat less junk food and salt, and we walked out of there basically feeling like our life had been turned upside down. A completely healthy looking kid. The doctor said he could have the surgery but he still couldn’t play sports again, or he could live on the beta blockers. I’m a pediatric nurse practitioner, so I resisted the chronic medication, and then the cardiologist was not happy with me because I refused to put James on the medication until we talked to his primary care provider.

 – Melanie, mother of James, age 20, Anomalous Coronary Artery


I was diagnosed with ARVD, ventricular dysplasia, as an adult. I was treated with a defibrillator and have been absolutely fine ever since. We thought that if this was a genetic disease, which we didn’t even know if it was, it wouldn’t show up until late adolescence at the earliest, 20s, 30s, like it did for me. For my daughter this disease was exacerbated by exercise, it was an exercise induced arrhythmia. My daughter was a three varsity athlete as a freshman in high school when she had her first episode, which seemed out of the blue to us, but now when we look back there were some signs. She had an arrhythmia, really near cardiac arrest situation, and passed out and had a convulsion on the field at her sports practice. I knew right away what that was.

She came to Children’s and it seemed like there was some genetic ventricular arrhythmia disease. So we were hospitalized here for a little bit, then they put a monitor in her, a LINQ monitor at that time, and medication. I assumed it would go the same track as mine, which is “Okay, we’ve got this covered now, just the medication will do it.” She went back to playing sports as a goalie, which is not cardio which we thought would be fine, and then she had another really serious episode. After that, she had the defibrillator put in.

 – Amy, mother of Rebecca, age 19, ARVD