Finding out at the ultrasound

She was diagnosed prenatally at my 18 week ultrasound. At that time she was diagnosed with a small aortic root and VSDs and she was also diagnosed at the same time with a brain defect which never panned out, but was reported at that time. After we received the diagnosis I had to have level two ultrasounds, and fetal MRIs, echoes, and a lot of testing. Things change day to day, and they encouraged us to wait to see if they were seeing the same things because ultrasounds are a wonderful tool, but it’s really hard to see stuff, and it’s not uncommon for a baby to be diagnosed with heart defects, and then come out with something completely different. We were encouraged to wait two weeks and have all the scanning done again, which we did, and things actually were different in two weeks. The neurological problem was gone in two weeks and it’s never appeared again. Who knows, maybe it was just a weird measurement, or she was lying a funny way. By the time I had her, I probably had 14 ultrasounds, multiple fetal echoes, and multiple MRIs.

 – Leslie, mother of Margaret, age 2, VSD


I was having twins. So, fortunately, my OB/GYN sends you to a high risk provider. I was on my first visit to the high risk department, so I was 16 weeks gestation but not even showing. The initial doctor that we had was a little blunt about it. I’m laying on the table and he said something about, “Oh my God, I’m sorry” or “I’m seeing something wrong with the heart,” I forget the exact words. And I said, “What does that mean, what are you talking about, what’s going on?” and he said “Just give me a minute, I’ll explain everything.” I was just shaking immediately. He brought me and my husband inside a room and drew an image of what he was trying to explain to us. To be honest with you, I could barely even think or listen to what he was saying. We were referred to the pediatric cardiology group. Fortunately there was a resource right there that we could see the next day. I don’t think we slept or stopped shaking or praying until the appointment.

 – Lindsay, mother of Brian, age 2, Heterotaxy


We first learned that Carson had a heart abnormality when I was 20 weeks pregnant during a routine ultrasound, although the initial diagnosis and what his end diagnosis was definitely not the same. Our initial experience was at our local hospital, and was pretty traumatic. They said it was the worst heart defect they had ever seen, and that he had no chance of survival. Our best case scenario would be that he would be born with severe mental and physical disabilities, and that it was basically inhumane to continue with the pregnancy. We were advised to “go home and grieve,” and that is a quote from them. We were told to come back later and have the pregnancy taken care of, which obviously was not something that we wanted to do. Unfortunately, even when I called to make a follow-up prenatal appointment, the secretary questioned me on why I was making a follow-up appointment. I obviously got another opinion.

Later that week we met with a local pediatric cardiologist, and she advised us to go to Boston. I think it was like 26—27 weeks pregnant. We met with his doctors and they revised Carson’s diagnosis to a double outlet right ventricle, so he is a single ventricle, he has one atrium, and heterotaxy syndrome, which is basically when your internal organs are misplaced. So not all of his organs are affected, but his liver and his spleen are inverted. So his liver and spleen are on the wrong side of his body which—most children with Heterotaxy Syndrome also have heart abnormalities. We were blind-sided with all sorts of craziness.

 – Amanda, mother of Carson, age 5, Heterotaxy


While I was pregnant, I had the normal prenatal testing done. Around 20 weeks they found that her heart rate was low and variable. I was monitored for a while on a daily basis and then a weekly basis and the doctors at the time decided that whatever it was, it was stable and they would have to figure out what was going on after she was born. She was born and they did an EKG and told us that it was normal and there was nothing wrong, they didn’t know why she had bradycardia in utero. We had been home for a couple of hours and I got a phone call from a Cardiology Electrophysiology fellow saying, “Your baby was supposed to come here.” Apparently her EKG was actually quite abnormal. Somehow the message had gotten mixed up. We went to Children’s and spent a few days in the hospital there, and at that point we learned that she had long QT.

 – Catharine, mother of Willow, age 8, Long QT Syndrome


I was pregnant with twins and we went in for an ultrasound, around 18, 19 weeks, and they had a hard time, especially with twins, finding Alexandra’s heartbeat, because her twin’s was really strong. We ended up having to spend a night in the ER while they were trying to figure it out. That’s when I remember I have the lupus antibody. We were able to find out that Alexandra had what’s called complete heart block, and that’s from people who have the Lupus antibody, there’s a percentage—and it goes up with each pregnancy—that a child can have complete heart block.

 – Kate, mother of Alexandra, age 8, Heart Block & Pacemaker


We learned at about 23 weeks. We had gone for our ultrasound and the maternal-fetal doctor couldn’t see all parts of her heart. Because I have a congenital heart defect, they suggested we come back in a few weeks and do the ultrasound with a pediatric cardiologist. Leah was our first born, so it was just my husband and I, and we knew it wasn’t good whenever the doctor left the room and nobody wanted to say anything during the ultrasound. The prognosis we were given was only a 50% chance of survival—we were distraught. We had a hard time getting pregnant for her, and then to finally get pregnant and halfway through that pregnancy be given such a grim prognosis, it was devastating.

 – Donna, mother to Leah, age 10, HLHS


I was about four and a half to five months pregnant. It was a routine ultrasound, they couldn’t see all four chambers of the heart. They didn’t think there was any concern, they said, “We’ll do a follow-up ultrasound in about a week.” At that ultrasound a week later, I’m certain they knew right away because I remember hearing the word “hypoplastic” but they didn’t tell us anything. I finally stopped them and said “You need to tell us” and they said, “Your baby definitely has a problem with his heart, try not to worry, some of these problems are easily fixed nowadays.” They said, “You’ll need to go to Boston” and I said “When?” and they said “Right now.” We went to a high-risk doctor and she knew right away what she was looking at. She called a cardiologist from Children’s and that was honestly the only kind and good thing she did for us. She was really abrupt—she didn’t even sit me up on the table before she gave the diagnosis, and I was still laying there with my belly hanging out and goop all over it. She said “Here’s what he has and it will financially devastate you, and be completely devastating to your other child, and you have one week left to terminate.” She said, “Do you have any questions?” I said “Is it a boy or a girl?” and she said, “It’s a boy.”  It wasn’t the best day.

 – Diane, mother of Jake, age 21, HLHS



Courtney: We went for an ultrasound, I was just spotting a little bit. I had placenta previa, and she said, “Okay, I can see why there was a little bit of spotting, this is a pretty serious condition, but wait, your son has Tetralogy of Fallot.” Boom, just like that. Richard—did you faint during that one?

Richard: I didn’t take it well.

Courtney: We were just like, “What?!” and she said, “Well, this is treatable and now we’ve seen it in utero, so don’t worry about that right now.” I had to go into the hospital immediately even though I had seven year old twins at home. He was born a month after I went in. They were checking his lung capacity—I was having amnio every other day, so that they could pull the fluid and check to see if the lungs had matured yet. They thought I could hemorrhage, but we needed him to be as mature as possible, so it was walking a very fine line- the moment his lungs matured, they delivered in C-section. He weighed close to seven pounds, and he was in perfect condition, didn’t look blue, and they rushed him to Children’s with Richard behind him, and they checked him upside-down, inside-out, said “He’s good to go” brought him back to me. I went home four days later. He had his surgery six months after that.

 – Courtney and Richard, parents of David, age 23, TOF

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