Raising a Heart Child: A Parent's Guide to Congenital Heart Defects

Raising a Heart Child

A Parent's Guide to Congenital Heart Defects

Jennifer Anne Fleming

Raising a Heart Child: A Parent’s Guide to Congenital Heart Defects

By Jennifer Anne Fleming

Copyright 2014 Jennifer Anne Fleming

Smashwords Edition

License Notes

This ebook is licensed for your personal enjoyment only. This ebook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each recipient. If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to your favorite ebook retailer and purchase your own copy. Thank you for respecting the hard work of this author.

Cover Design by Stephannie Beman at Ruis Publishing

Table of Contents

Introduction

Chapter 1 – Discovery and Diagnosis

Chapter 2 – Causes of Congenital Heart Defects

Chapter 3 – Treatment Plan

Chapter 4 – Remainder of the Pregnancy

Chapter 5 – Corey's Birth

Chapter 6 – Baby Comes Home!

Chapter 7 – Emergency Blalock-Taussig Shunt (B-T Shunt) Surgery

Chapter 8 - Life between the B-T Shunt and the Glenn

Chapter 9 – The Bi-directional Glenn Surgery

Chapter 10 – Life between the Glenn and the Fontan

Chapter 11 – The Fontan

Chapter 12 – Life after the Fontan

Chapter 13 – Having another Child

Chapter 14 – Financial Impact/Marital Impact

Chapter 15 – Make a Wish

Chapter 16 – The Future

Chapter 17 – Four Heart Children

Appendix I – List of Common Heart Defects

Appendix II – Glossary of Terms

Appendix III – Support Groups

References

About Jennifer Anne Fleming

Acknowledgments

Introduction

There's something wrong with your baby's heart. Those seven simple words changed our lives forever.

We began our journey in the world of congenital heart defects (CHD) when I was twenty weeks pregnant with our first son, Corey. During the standard twenty-week ultrasound, the technician found that one side of our son's heart was abnormally large.

And so it began. A series of high level ultrasounds, test after test, consultation after consultation with specialist after specialist, all through an endless stream of tears and fear and sadness. A perinatologist who gave us no hope. A pediatric cardiologist, and then another and another, who gave us the ray of light that we needed to hang on.

In medical terms, tricuspid atresia. A single ventricle heart defect, a hypoplastic right heart syndrome. In human terms, a life lived with half a heart. But a life worth living, in every way, if we could accept the challenge and fight for our baby. And so we did.

Corey had his first surgery before he was a month old - the Blalock-Taussig Shunt. The second surgery came at less than six months of age - the Glenn. And finally, the three-stage reconstruction was completed with the Fontan when he was just four years old.

Today Corey has completed third grade. He's the teacher's pet. He's an A student. He plays baseball. Everyone loves this beautiful child who fought his way into the world and then fought his way into all of our hearts.

I don't know what the future will bring. Tomorrow is a promise to no one. But I do know that every single moment I have had with this amazing little person has been a gift. The present is bright, and I have every reason to hope that the future will be too.

I am not a doctor, and this story is not meant to offer medical advice. Only medical professionals can provide medical advice. But I have lived this story, and these pages offer a firsthand glimpse into the life of a child with CHD, including everything that I have learned along the way. This is the book I wanted when we discovered Corey's defect. It is a road map of our journey through the world of CHD.

This is Corey's story. Through it perhaps you can find hope for the child in your life who battles congenital heart defects too. And maybe some small comfort in knowing that you are not alone.

Chapter 1 – Discovery and Diagnosis

Discovery

We all have dates in our lives that carry great meaning. Perhaps it is your wedding date, or the day your first child was born, or the day your mother or father passed away. Each of us has at least one date in our lives that changes us. Whether it's a day of profound joy or profound sadness, we're never the same once it passes, and we will always make note of that date when it arrives each year.

For me, the most profound date was October 15, 2004. I was twenty weeks pregnant at the time. On that day, we discovered that our beloved baby boy, our first child, had a major congenital heart defect (CHD).

I remember waking up that morning filled with excitement. My husband, Damian, and I were going to find out if we were having a boy or a girl! That's all I could think about. Never did I even consider the idea that there would be something wrong with my baby. All I could think about was being able to call him or her by a name, finally, instead of the munchkin, or the baby.

The standard twenty-week ultrasound began normally, and our son cooperated with the technician and let us know his gender right away. It's a boy! We were thrilled! And we started calling him Corey immediately. But what was supposed to be a twenty-minute ultrasound stretched on for an hour; although the technician gave us no reason, other than saying she needed more pictures. The truth was that she had noticed Corey's heart was abnormally large on one side, and she knew there was a problem.

Unfortunately she didn't share this with us before we left, and we both went to work. My obstetrician/gynecologist (OB/GYN) got the news quickly, however, and she called me not long after I arrived at the office. My heart dropped when she said, There is a problem with the ultrasound. I need you to go somewhere private. I'll hold. Damian was actually on the other line at that very moment, and I had to tell him there was a problem with the ultrasound, but I had no more information, and I'd have to call him back.

I clicked back to my OB/GYN, and she told me that the baby's heart was abnormal; we would need to have a Level II ultrasound immediately with a perinatologist at a hospital in Baltimore. Her voice was grave, and she made certain I understood the seriousness of the situation. At this point, it was imperative that we move quickly and get more information. I asked her for the bottom line, and she told me that some heart defects may be treated, but others are not treatable. I guess she thought that Corey's was serious enough that he might be in the second category, because she told me that my baby might die.

I felt the blood drain from my face, my hands started to feel numb, and a feeling of unreality came over me as shock and disbelief set in. How could this be happening to me? I was healthy! I'd taken such good care of myself. I went to all my OB/GYN appointments, ate well, and took my prenatal vitamins. And like many people, even though I have a degree in Biology, I had never heard of CHD. I'd heard of birth defects, but I never, ever thought that my baby would have one.

I burst into tears. Huge, wracking sobs. I just could not stop the overwhelming grief and fear from hitting me, and hitting me hard. Just minutes before I'd been basking in the happiness of knowing I'd have a little boy to love, and now I was terrified that my little one wouldn't even live. Thinking about those moments is hard even today.

Once I managed to quiet my sobs enough to pick up the phone, I called Damian back, shared the information I had with him, and asked him to please come and pick me up. I was in no shape to drive. He arrived soon after, and we drove together to the hospital in Baltimore. The drive was mostly quiet; we were both in a state of shock.

We arrived at the hospital, checked in, and endured an hour of agonizing waiting. It felt like forever. I wanted answers desperately. Just to know if my baby had a chance. Knowing something was wrong, but not knowing what, or if anything could be done to help our baby, was terrifying. It took every ounce of strength in me not to just lose it and sob hysterically.

Finally, were taken to an exam room for the Level II ultrasound and fetal echocardiogram. The Level II ultrasound is an ultrasound anatomy scan that uses sound waves (just as the standard twenty-week ultrasound does) to look at a baby's organs: the four chambers of the heart, kidneys, bladder, stomach, brain, spine and sex organs. Clearly it was the four chambers of the heart that were of interest that day. The fetal echocardiogram (similar to a standard echocardiogram, only done on the baby in utero) uses sound waves to take pictures of the baby's heart. These tests can provide a diagnosis of the specific congenital heart defect a baby has.

Lying on the table and enduring those tests was like a nightmare. I still felt that sense of unreality. Thankfully the tests weren't at all physically painful, but I was an emotional wreck at that point. Finally, when the tests were complete and the perinatologist had reviewed the results, he came in to consult with us. The first thing he said was, The baby has a heart defect, and it's a bad one. He explained what it was, but my mind could hardly process anything he was saying at that point.

I asked what our baby's chances were, and he led us to believe that our baby would likely be born only to suffer and die in a few short years. I've never heard a more horrible, hopeless statement in all my life, and I hope I never hear one like it again. And what's more, he was wrong! Wrong wrong wrong! And I hate him for that. How cold and calculating he was, how he only saw the bottom line. Why bring a child into the world with CHD when I could just abort and have another healthy child in the future? That's how he saw my beautiful son! How many babies with CHD have lost their fight before they ever drew their first breath because of perinatologists like him? It makes me ill just thinking about it.

And, in addition to how wrong he was about our child's outcome, he was also wrong about his diagnosis. He diagnosed Corey with Double Inlet Left Ventricle, and that was incorrect. Corey actually has tricuspid atresia. When pronouncing death as the outcome and devastating people's lives, it might be a good idea to get the facts straight. And this is why I am forever thankful that we did not listen to that guy.

But then he said the one thing that I won't ever forget. It was the one thing I could hang on to in the middle of this waking nightmare. And that one thing was this: we had a choice. In fact, we had three options:

The three options we had when we discovered our child had CHD in utero:

Option 1: get more information

Option 2: termination

Option 3: compassionate care

The first choice was Option 1: get more information.

I clung to this choice immediately. As we continued talking to him, I just kept thinking get more information, get more information. We can do that. We have an option that doesn't lead to death. I still felt as close to hopeless as I've ever felt in my entire life. Nothing has ever come closer to the depth of despair I felt that day and the days following, but I knew that we would choose option one and get more information. And considering the mental state we were in at that point, there was no way we should have been making a life or death decision about our beloved son.

As all of this was being thrown at us, the doctor also told us that the next step would have to be a genetic study of our son's chromosomes by amniocentesis. During amniocentesis, a small amount of fluid is removed from the sac surrounding the baby using a fine needle and ultrasound for guidance. The baby's genetic makeup can then be analyzed. I asked the doctor what the outcome would be if there was a chromosomal abnormality. He said, in his cold unfeeling manner, Death. It was yet another blow, and once again, not entirely accurate. But we would find that out only later, when we opted to get more information from another source.

We proceeded with the amniocentesis on the spot. There is a risk of miscarriage with this procedure, but it is less than one percent, and the one good thing I can say about this robot of a doctor is that his record was excellent in this regard. He had a great deal of experience and a miscarriage rate of less than one in four hundred.

We left the hospital, sick and in shock, feeling hopeless. It was the worst day of my life.

I can't remember much of the rest of that day. It's mostly a blur. I know that I wanted to crawl into a ball in my bed and just curl myself around my little baby boy. I rubbed my belly and talked to him. I loved him so much, and I felt so helpless to protect him. The thought of him being born only to suffer just tore my heart out. Could I really do that to him? He didn't have a voice. He didn't have a say. Everything that would happen to him would be because of me and his father. Choices we made, or didn't make. I wished I could ask him what he wanted.

Since we had decided to get more information, the next step was to get a second opinion. We scheduled another fetal echocardiogram, this time with a pediatric cardiologist at the same hospital in Baltimore. Anyone in the early stages of discovery would benefit greatly from seeing a pediatric cardiologist as soon as humanly possible. It is the pediatric cardiologists who see our CHD children grow up. They know what to expect. They can offer the truth about what a baby's chances are. The perinatologists only see the defects – they never see the living, breathing children. The pediatric cardiologists are with our heart children every step of the way, watching them grow up, seeing the amazing people they will become.

The initial discovery/diagnosis was on October 15th, but the next round of tests couldn't be scheduled until October 20th. An eternity. The days leading up to those tests were the longest of my life. Damian and I could barely function. We walked around like zombies, almost always in the same room, often holding hands, knowing that we were in it together. Knowing that I wasn't alone was probably the only thing that kept me going. I kept picking up our baby's little clothes and crying, wondering if he'd ever even get to wear them.

This time also gave us the chance to contemplate the other possibilities that the perinatologist had offered.

Which brings us to Option 2: termination.

What a terrible word for ending a child's life. The perinatologist offered us termination on the spot. Thankfully, we did not accept this option. That would have been the end of all hope for our child. And as I said before, we were in no shape to do it. But now that we were at home, we did talk about it. What if our child would be born only to suffer and die? Is it fair to put him through that? To put us through that? Should we choose to let him go and save him from suffering?

At the time we were considering termination as an option, I was told by a labor and delivery nurse that an abortion would involve labor and delivery of a dead baby. My views on abortion in general are irrelevant. At that point, for a baby I was in love with, who I knew had fingers and toes, for me that would have been an unendurable horror show. All I could think about was the fact that he had fingernails and a name. I couldn't do it. I just could not do it. No matter what happened next, that was one option that I was simply unable to choose.

And finally we visited Option 3: compassionate care.

The third option involves doing nothing to help save the baby. Bring the baby home, care for him or her as best as possible, make him or her as comfortable as possible, and just wait for the baby to die. This seemed slightly better than the horror of termination to me, so we were forced to consider this option too, but it still seemed utterly horrific. Bring my beautiful child home, count his fingers and toes, fall in love with him, and then just watch him die? What would that be like? Anything but peaceful. What kind of guilt would I carry around if we chose that path?

I felt like everywhere we turned, it was just horror and more horror and no hope. I started wishing that the amniocentesis would just result in a miscarriage so that I wouldn't have to face any more of these impossible decisions. Kill my child. Watch my child die. Try to save him and watch him suffer. God help me. Somebody help me. Anybody help me! No person should ever be put in such an impossible position; nobody should ever be so trapped. It's so unfair.

Getting a second opinion was the best thing I could do for myself, my family, and my child. This choice offered us more facts and more opinions to help make this extremely difficult and personal decision. The stakes were very high - no less than life or death. What if a doctor was wrong? I will never undervalue a second opinion again in my life. Had I listened to the first opinion only, Corey would not be with us today.

Diagnosis before Birth

Finally, the day of the second round of testing arrived. We would have our second opinion. I had another fetal echocardiogram, which was again grueling for me. The tears leaked out the corners of my eyes as I lay there on that exam room bed. I still didn't really feel any hope – I thought this second opinion would be the nail in my baby's coffin. But it had to be done. I had to do everything I could to make sure we made the best choice we could.

When the test was over and the pediatric cardiologist had a chance to review the results, he came in to speak with us. He gave us the (correct) diagnosis of tricuspid atresia. He explained that the tricuspid valve, the valve normally located between the right atrium and right ventricle of the heart, had never formed in utero. It was simply a wall of tissue. Though the right ventricle (the ventricle designed to pump the blood from the heart to the lungs) is present, it is very underdeveloped, and will never be used as a pumping chamber. The left ventricle (the ventricle designed to pump the blood from the heart to the rest of the body - essentially the work horse) is then required to do all the work of the heart. This is also known as Hypoplastic Right Heart Syndrome (HRHS). Children who lack a left ventricle, but have a fully functioning right ventricle, have Hypoplastic Left Heart Syndrome (HLHS). Both HRHS and HLHS are single ventricle anomalies, and both follow a similar surgical pathway for treatment.

OK, so our son has tricuspid atresia, HRHS, a single ventricle congenital heart defect. But that's not what the perinatologist said. We hammered the pediatric cardiologist with questions, starting with will he live? Does he have a fighting chance? He immediately assured us that our baby was a good candidate for surgery, and that yes, he had a fighting chance. I hardly dared to believe it. Hardly dared to hope. Could it be true? Could our baby actually have a chance? And if he did have a chance, would he have any kind of a normal life? It hardly seemed possible.

After he offered us the breath of hope that our child would live, we kept on with the questions.

Q: What kind of quality of life will he have? Will he be normal?

A: Yes. You won't be able to tell, by looking at him, that he has a heart defect.

Q: What will the impact be on our son's mental capacity?

A: Minimal. If he'd have been an above average child with a healthy heart, he'll be an above average child with CHD.

Q: Will he be able to play sports?

A: Not varsity sports. He needs to be able to self-regulate. He can run around on the playground with all the other kids, though.

Q: What's the treatment?

A: Three-stage reconstructive surgery path. First, the pulmonary artery band or the B-T shunt in the first few weeks of life. Second, the Glenn at six months. And finally, the Fontan completion at two to five years. A palliative option, not a fix. Not a cure.

Those were the only questions we needed answered right then. We would have more questions later. We were so confused after our meeting with the pediatric cardiologist. The diagnoses and prognoses of the perinatologist and the pediatric cardiologist were so completely different that we hardly knew what to believe. So we sought a third opinion. We were determined to get the facts and get as much information as we possibly could before making a decision.

We saw a third doctor. A pediatric cardiologist at a different hospital in Baltimore. After yet another fetal echocardiogram, the second pediatric cardiologist agreed with the first pediatric cardiologist. She confirmed a diagnosis of tricuspid atresia, and she also, thankfully, confirmed the positive prognosis. Our baby had a chance! A chance at life! A chance at a normal life.

Once we learned that Corey had a chance, we knew we had to give it to him. It wouldn't be easy, for us or for him. And there were no guarantees, but there are no guarantees in life anyway. We make the best decisions we can based on the information we have, and then we just move forward. Choosing to get in the fight and do everything possible to give our child a good life is the best decision we could have ever made. It was the only decision that allows us to live without regret. Whatever happens next, whatever the future might bring, we can rest assured that we've done absolutely everything in our power to help our beloved child.

Diagnosis after Birth

I feel fortunate that our baby was diagnosed before birth, because this knowledge enabled us to make some choices for his treatment and line up a team of specialists before he even made his debut into this world. But what happens if a baby isn't diagnosed before birth? Are there signs and symptoms to look for that may indicate a congenital heart defect in a baby? Yes.

According to the National Institute of Health (NIH), sometimes there are no signs of a defect. But some heart defects, particularly the severest defects, do cause clear signs and symptoms, such as: rapid breathing, cyanosis (a blue tint to the skin, lips, and fingernails caused by decreased oxygen levels), fatigue, and poor blood circulation. Heart defects can also cause heart murmurs, which a doctor can hear through a stethoscope. But many healthy children have heart murmurs as well, so a murmur doesn't necessarily indicate CHD.

Congenital heart defects are sometimes diagnosed at or shortly after birth, which can be shocking and traumatic. I've spoken with people who have dealt with this, and it's excruciating to give birth and then have the baby immediately taken away for evaluation and sometimes emergency treatment. It's particularly awful if the baby is sent to an entirely different hospital. As if giving birth isn't traumatic enough. I can only imagine how heart-wrenching this situation would be. Fortunately, with a timely and proper diagnosis, the outcome for babies diagnosed with CHD after birth is usually very good.

Chapter 2 – Causes of Congenital Heart Defects

Blame

Did I do this to my baby? I asked myself that question over and over in the first days after diagnosis. I started thinking about everything I had done, not done, consumed, not consumed. I had a couple of glasses of wine before I knew I was pregnant. Did that cause Corey's heart defect? I took a Zyrtec when I was miserable from my allergies – just one, but was that enough? I rode on a roller coaster when I was six weeks along and didn't know I was pregnant. Did that cause his defect?

I spent hours and hours looking critically at everything I had or had not done. Was it too many diet sodas? Was it exposure to the paint in the nursery? Was it because I cleaned the cat's litter box? Did I forget to take my prenatal vitamins one too many times? Was it too soon after I stopped taking the birth control pills to get pregnant? Was it because I ate raw sushi? Did I exercise too hard/get too out of breath too early on, and that lack of oxygen caused Corey's heart to form improperly?

I tried to take such good care of myself and my baby when I was pregnant. It's so hard to think that something I did could have caused him (and all of us) so much suffering. The guilt that I felt in those first few days was overwhelming. I thought, over and over again, What if this is my fault? Everyone will hate me. I will hate myself. I'll never be able to forgive myself. Who could be so selfish and stupid as to cause their poor innocent baby to suffer so much? Maybe even die? I just wanted to crawl into a hole and never come out.

But the answer to all of those questions is unknown, because in most cases, the cause of congenital heart defects is unknown. In some cases, heredity or a specific chromosomal defect (such as Down Syndrome) might predispose a baby to CHD, but in most cases, the cause is a mystery. But to all the mothers who have grilled (and will grill) themselves on their actions, this is what my pediatric cardiologist told me: You did not do this to your baby. This is not your fault.

Our pediatric cardiologist was wonderful when she discussed the causes of CHD with us. She explained that the formation of a baby's heart is very complex, with many twists and turns, and sometimes parts of the formation just simply go wrong. That's what she believes happened with Corey's heart. One twist or turn happened out of sequence, or a step was skipped, and this left him without a tricuspid valve. She said she's actually surprised it doesn't happen more often, considering how complex the heart formation process is.

I found comfort in her words. But I was still unable to let go of the guilt entirely. If the cause is unknown, then perhaps I had a hand in this after all. I pulled out my book on fetal development, and I looked at when the heart forms. It's early – really early, beginning around five weeks of gestation, and sometimes a heartbeat is detectable as early as six weeks. What was I doing in those weeks? Probably nothing of any consequence. But considering how high the stakes are, it's hard to let go of these thoughts.

While there isn't much information available on the causes of CHD, there is some. According to the Boston Children's Health Library (BCHL), while it is agreed that most congenital heart defects have no known cause, there are some types of defects that occur more often if a mother comes into contact with particular substances, like medications or illegal drugs, early in pregnancy while the baby's heart is forming. Many genetic syndromes are also linked to heart defects.

Medications/Maternal Illness

Sometimes pregnant women get sick and take medication for their ailment. According to BCHL, while some medications seem to have no impact on a developing baby, others have been shown to affect the heart's development. For example, here are some illnesses and treatments (or lack of treatments) that may raise the increase of having a child with CHD:

women with seizure disorders who must take anti-seizure medication during pregnancy

women suffering from depression who take lithium for treatment during pregnancy

women who have phenylketonuria (PKU) who don't adhere to the special diet necessary to treat the disease

women with insulin-dependent diabetes (especially if the condition isn't well controlled)

women with lupus

women who contract the virus rubella while pregnant

Genetics

According to BCHL, genetics may also play a role in the causes of CHD. If a parent has CHD, or a previous child has CHD, our pediatric cardiologists let us know that the risk of having another child with CHD increases slightly. Anyone who has a child with CHD and wants more children should discuss the risks with their pediatric cardiologist. Considering genetic counseling is also a good idea.

Babies with chromosomal abnormalities often have heart defects. Most people have forty-six chromosomes (twenty-three pairs). If there are more chromosomes or fewer chromosomes than the normal count, or if there is a problem with the structure of any of the chromosomes, it can result in genetic syndromes and birth defects, including CHD.

Several chromosomal abnormalities are specifically associated with heart defects. Babies born with the syndromes listed below often have heart defects; although, this does not mean that all babies born with these chromosomal abnormalities will definitely have CHD. If a baby does have any of the following syndromes, screening for CHD is a good idea:

Cir Du Chat

DiGeorge

Down

Trisomy 13 or Trisomy 18

Turner's

William's

Wolf-Hirshhorn

In addition to chromosomal abnormalities, there are single gene defects. On the forty-six chromosomes are an estimated seventy thousand genes. If there is a mutation in any one of these genes, it can result in genetic syndromes and birth defects. As with the genetic syndromes above that are a result of chromosomal abnormalities, there are also several genetic syndromes that are a result of single gene defects. These syndromes are also associated with heart defects, meaning that babies born with the following are often (but not always) born with heart defects:

Ellis-van Creveld

Holt-Oram

Marfan

Mucopolysaccharidoses

Noonan

Smith-Lemli-Opitz

Amniocentesis can be used