Missed Diagnosis, Second Opinion-by the Grace of God.

December 5, 1986, Saving Laura’s Life, Part 1

Missed Diagnosis Definition: The patient gets no diagnosis or treatment even after naming symptoms, or they get tested but receive no diagnosis. The delay in treatment may cause the problem to worsen, which a thorough exam would have prevented.

Introduction

Laura Marie Fazio was born on July 13, 1986, with 9/9 Apgar scores, and was declared a healthy baby by her pediatrician.  Paul and I spent those first few months of Laura’s life believing that Laura was healthy. While overjoyed with being a new mother, I had a gnawing feeling that something was wrong with my baby’s health. My happiness became laced with worry and self-doubt.  I brought my concerns to Laura’s doctor on more than one occasion. At one point, I wrote down my concerns and her symptoms and handed the pediatrician the list. The doctor read it quickly, tossed it down onto his desk, dismissed my concerns, and touted patronizing platitudes. He told me that I was experiencing new mother anxiety and that Laura was picking up on it. Trained by societal standards to believe the doctor we succumbed, the doctor knew best, Paul and I desperately wanted to believe that he was right, that Laura was a healthy baby. I began to doubt my observations and instincts until the feeling became too strong to ignore. I knew in my heart that my baby was trying to tell me something through her persistent and inconsolable cries. It was an agonizing time of inexcusable invalidation, of being negated, and pathologized as an overly anxious new mother. I prayed to God and finally got the fortitude I needed.  On December 5, 1986, Paul and I took our 4 1/2 months old daughter for a second opinion. This was the day we discovered that the first pediatrician horrifically failed Laura, when he failed to investigate a worried mother’s list of concerns. This was the day our innocence was shattered, our trust was broken, and trust was reimagined. 

Second Opinion, by the Grace of God

December 5, 1986 

Paul and I packed up the baby bags; extra diapers, water bottles, extra clothes, the little yellow dog stuffed animal, and the NUK pacifiers that we used to try and soothe Laura. We drove the forty minutes it took to get to the new pediatrician’s office for our 9:00 AM appointment. We braced ourselves for what the doctor might say.

“I think it is a digestive thing, like my family has, since she seems to have a lot of diarrhea and is a poor eater. Maybe she is crying from stomach pain. All along, I’ve been thinking this could be a digestive issue.  All I know is that she has something, and that's all I really know.” I said as I pondered a possible diagnosis while Paul drove the car.

Paul listened, then said, “We will have to wait and see what the doctor thinks.”  

Once at the doctor’s office we were greeted by a nurse immediately, and asked to follow her directly into the examining room. No wait, I noted, how unusual. The nurse instructed us to undress Laura and wrap her in a blanket to keep her warm, then said that the doctor would be right in.  When Dr. Maltz entered the room, he loomed over us; a tall and thin man with an intense expression, and a wide closed mouth smile. We all introduced ourselves and shook each other's hands. 

The doctor stated what he needed to happen quite clearly, " Please do not tell me anything about your baby, or anything the other doctor said. I want to have a fresh view and examine her first." 

 This made sense. In fact this was the first thing I heard so far in Laura's medical care that made any sense at all.  Dr. Maltz told me to keep holding Laura while he listened to her heart since Laura was calm. This doctor was gentle and warmed up the stethoscope when he listened to her heart. Next he asked me to place Laura down on her back on the examination table, where he poked around on her abdomen and felt her feet, ankles and hands.  The examination lasted about fifteen minutes.

“ You can get Laura dressed now, and we can speak in my office in a bit. Please stay here until the nurse comes to get you, rather than going out into the waiting room,” Dr. Maltz commanded. 

Together we concluded that if it was something bad, the examination would have lasted longer and the doctor would have said something.  Paul and I looked at each other while making sighs of relief. We dressed and calmed down crying Laura and waited for what seemed like a long time. It felt like a half hour or more went by, though we were at a loss for a true concept of time. We wondered what was taking so long

The nurse finally came to retrieve us, led us to the doctor’s office and motioned us to sit in the leather chairs facing a mahogany desk.  Dr. Maltz came in and sat down.  He had a concerned and caring look on his face, as well as one that hinted at pride of accomplishment. Then came the news.

“There is something wrong with your daughter's heart, and that I am sure of.  She has a heart murmur, so loud that I could hear it walking in the door,” he said, emphasizing there was no mistaking this. “I also felt her liver and it’s very enlarged. Oh, and I suspect that her weight is well below her birth weight since she has edema, which means she has a lot of fluid on board. I have taken the liberty to call a medical school colleague of mine at Boston Children's Hospital in the cardiology department. Dr. Long and his team are expecting you. Would you like me to call an ambulance or do you prefer to drive? “He asked. “If you do want to drive yourselves, I think driving could be faster. Go there right away, and please do not even stop at home to get a tooth brush. They are waiting for you.”

Together, Alone: The Car Ride to the Hospital

I turned to Paul as he gripped the steering wheel,  “He said — don’t even stop home for a toothbrush?”   

Paul acknowledged me with a sigh but kept his gaze straight ahead, as if afraid to turn his attention from the road for even an instant. He looked like a deer in a headlight, afraid disaster would come if he broke concentration and allowed the doctor's words in. I wondered how Paul would be able to focus on the long drive from Cohasset to Boston with his wife and a potentially sick baby on board. There were practical tasks to be taken care of immediately after Dr. Maltz had spoken those words, and put us on alert; go now to Children's Hospital, and hurry, they are waiting for you!   These were our new general’s orders. This seemingly kind doctor who Ruth Allen, our concerned childbirth nurse had sent us to for a second opinion was now the person we were placing our trust in that day. We would later come to say that he was the one who sent us on the path of answered prayers.  

Paul knew his role well.  As a husband, father and protector he knew what was expected of him. When he was back in the doctor's office, I imagined that his own mind, laden with duty gave him a set of orders to follow; get directions, go to the car, warm it up on this cold wintery day, come back inside to carry the baby bag, hold the door for Susan who would be holding Laura, and be the person responsible for ushering his little family safely to the hospital to discover the unknown. Fear and panic would have to wait for a turn. Paul had work to do.

The drive would take at least an hour depending on traffic, and in some ways it seemed less urgent than the doctor made it out to be. When I looked into the back seat where Laura was bundled and tucked into her car seat, she looked so peaceful while asleep. Seeing her calm made me think that this was not such an emergent scene, which helped me to not freak out. One can never predict a response to a situation like this, not even from one's self.  I took my cues from Laura, something I would come to say often. If she seemed okay, then I was okay.  Once I saw how comfortable she appeared to be, I settled back into the passenger seat, tried to be positive, and directed my attention toward Paul, the other most important person in my life. 

I spent the beginning of the car ride, alternating my attention between glancing to the back seat of the car to check on Laura, and watching Paul as he drove the long and winding back roads out of Cohasset, through Hingham and finally onto the entrance ramp of  Interstate route 93 north into Boston.  I wondered if the pediatrician's words were repeating in his mind like they were repeating in mine, like a skipped record.  I decided not to ask him,  and just let him be. I resigned myself to the fact that I could only imagine but not really know what he was feeling or thinking.  No one can ever know what's in another person's heart or mind, even if they had been married for almost two years and together for ten. I was not even sure of what I was feeling, so how could I even begin to guess what a father feels when his family is threatened by bad news. I knew Paul well enough to know that there lay deep within him, a sense of personal responsibility to protect and provide for his family, an important mission in its own right.  I thought about my role as  mother and his role as a father, and how different they were even though we shared the parenting of a baby girl together.  I had been busy for nine months internally growing a fetus, then birthing her, then nursing our baby while in the world.  Paul had been more of an onlooker during pregnancy, less active but still a participant in the birth process, and now becoming more involved in our baby's first months of life. Paul understood our different roles well, saying to me with respect and reverence that the main job of Laura's immediate care and survival rests upon you, her mother.  He would tell me this often, as validation for my new and all consuming  role as the mother of a newborn baby. 

I shifted my focus back to the drive, ”Do you know how to get there?" I asked him even though I didn't really need to. Of course he did.

Paul nodded yes, without breaking his gaze from the road. After we received the news from Dr. Maltz, Paul instinctively did what he needed to do when he acquired the directions to Boston Children's Hospital. In turn, I did what I needed to do when I nursed hungry and crying Laura in the doctor's office, and tended to my young like a mother instinctively does. The love we both felt for our offspring was much more than we could have ever have imagined.  I understood how a lion and lioness would move to fierceness to protect their young.  This protective instinct rose inside of me as we drove into possible dangerous territory; toward a hospital where dangers could potentially lay ahead. 

I attempted to quell my rising fears by putting a spiritual spin on things. Its just God’s way of pointing us in the right direction, to provide us with a smart and thorough doctor who will get to the bottom of things and solve whatever is wrong with Laura quickly.  I reassured myself with this kind of self-talk as I sat with my head pressed against the passenger window, my usual posture in the car when I was thinking and Paul was driving.  

I quickly jolted my head upward and wondered if I should attempt conversation.  Instead, I put my hand onto Paul's right knee and he put his hand into mine. We sat in silence within our common bond of fear and hope, a place where words would seem inferior.  Paul was never much of a car chatter anyway. I was accustomed to having free-reign to quietly think and feel what I wanted to, whenever we were on long drives. Sometimes I took it personally that he didn't flash me more glances or initiate conversation in the car.  I figured it was just a guy thing when I was feeling good about myself. When I was feeling insecure or simply in need of some frolicky conversation, I found it to be annoying or sad to be left alone in the car with my thoughts when riding with Paul. I would sometimes put my hand up in front of him, wave it and say, earth to Paul, but stopped this habit once I saw how much it bothered him. I would settle back into our car routine, which was really his car routine.  I learned to savor this quiet time in the car, to be able to think and feel my own thoughts. I guess I can thank Paul for helping me to develop a strong sense of autonomy and emotional self-sufficiency. What I didn't know then was that this strength of skill, of being able to tolerate one's own thoughts and feelings would come in handy during the arduous journey ahead. 

Today was not one of those car rides where I would be beckoning for a response from Paul or keeping up both sides of the conversation.  I had no desire for chit chat nor did I want to invade the space in the car with foreboding thoughts in spoken form. In fact my mind didn’t even want to host the thoughts that flooded in after I heard those words from Dr. Maltz’s lips. Each and every sentence spoken continued to play out in my mind, as if stuck on repeat. There is something wrong with her heart. That one that rang out the strongest.  Her heart murmur is so loud,  I could  hear it walking into the room.  I pondered the meaning of this remark.  Why would he put it that way? Was it his way of telling us that it was so obvious to him, and couldn't be missed, that Laura's pediatrician should have heard it too? 

I turned to Paul and broke the silence in the car, " The doctor said, her heart murmur was so strong and loud that he could hear it when he walked into the room.  Shouldn't Laura’s first pediatrician have heard this too?” I asked.

Paul took his eyes off the road for just a second, to look at me and nod in agreement.  He let out a long pained sigh that indicated disgust. I knew he was feeling the same thing I was feeling, that it was unforgivable that Laura’s first pediatrician missed this completely, the whole time for 4 1/2 long months. 

I thought about how Laura was always crying during those pediatric exams, especially when the doctor tried to listen to her heart. He would not allow me to hold my baby and calm her down to get a good listen. I wondered if that is why he couldn’t hear the murmur, though there was no good excuse for missing something this important for so many months. 

“It’s probably just a heart murmur like I had when I was born," I said, hoping to quell both our fears. “I was told that I was born with a heart murmur, and eventually outgrow it. This is probably what's going to happen here.” I stated confidently.  “He said, heart murmur, didn't he?” I asked as a way to defy the gravity of the situation.

  “Yes, he did say that, but I don't really know what a heart murmur is,” Paul admitted.

  I realized that I didn’t know what a heart murmur was either, though I recalled being told I was born with one. Continuing to attach myself to this hypothetical best case scenario, I wanted to believe with all my being that Laura simply had a heart murmur and that she would outgrow it just as I did.  Pacifying myself with a bit of optimism, I imagined Paul to be fearing the worst, while I was hoping for the best. Paul was a self-declared pessimist, while I tended to be an optimist. We would joke about this discrepancy, often stating to one another that I saw the cup half full while he saw the cup half empty. In conclusion, we knew we needed to wait and see what the doctors at Children’s Hospital would discover.  Holding on to hope and trying to keep  fear at bay, we were choosing to protect ourselves with denial. This coping method would become almost automatic, like an involuntary reflex. 

It was snowing now, and Paul was straining to peer in between the swiping windshield wipers to see the road, and the signs that signaled the entrance to the highway.  Paul continued to remain in a rigid braced position, in order to focus solely on what he needed to do; get his family safely to the hospital. 

After a few moments of restless fidgeting and repeatedly checking into the back seat to see if our baby was still sound asleep, my mind began recalling our nightly routine during  the past few months.  Each night when Paul arrived home from work, he looked forward to feeding Laura that one bottle a day of expressed breast milk, to develop a stronger bond, something I read in a parenting book.  After feeding poorly, though apparently enjoying the comfort of her father’s arms,  Laura would erupt into nightly inconsolable crying sessions that had us desperately trying everything to help her calm down. We took turns holding and jiggling our baby, while walking her around the house.  When that didn’t work, one of us would place our crying baby into her stroller to create steady soothing motion while walking Laura in a perfect circle through the layout of our Cape Cod style home; from the living room to foyer, then though the dining room to the kitchen, then back again through the living room, to the original location of the stroller. We had been informed by the baby books that newborns miss the motion they felt while traveling aboard their mother while in the womb. This made good sense to us, so we set out to simulate the comforting feeling of movement our baby may have felt while inside my active pregnant body, to give her a sense of security.  If this didn’t work to stop the crying, we resorted to driving baby Laura around the neighborhood in the car, where she would finally stop crying and fall asleep, out of sheer exhaustion most likely. We too became weary from our nightly mission of trying every trick in the books to help our baby settle down and stop crying. 

A horrible sinking feeling took possession of my being. Did we not listen close enough to Laura’s cries?  Was she telling us that something was wrong? Tears are the only way a baby can communicate that something is wrong. I recalled feeling that Laura was trying to tell me something.  I even asked her out loud a few times, can you tell me what is wrong? I strained to listen, as if the answer would magically come to me. My ability to hear  was clouded by the pediatrician's repeated declarations that Laura was healthy, and that I was an anxious new mother who made her baby anxious too. 

The pediatrician never veered from his position, even after I provided him with a handwritten list of symptoms: long inconsolable crying jags, profuse sweating when eating and sleeping, we can feel her heart beating very fast when we hold her in our arms, feeds poorly, too thin with low weight gain, seems to have a strained expression on her face, does not tolerate laying on her stomach, has a protruding stomach, and seems like her eyes rolled back in her head sometimes. The doctor had an answer for everything; a baby’s heart always beats faster than an adult’s heart,  she sweats because she is hot, she is thin because you and your husband are thin, hereditary, some babies cry more than others— all normal! Get a hold of your anxiety since the baby is picking up on it and it is preventing her from relaxing enough to feed properly. Try a bottle, stop breastfeeding her and come back in two weeks.  I had been right all along, that something was in fact wrong with our baby, but there is no joy in knowing you were right when it means your baby is sick. 

Impending doom hovered around me. To distract myself from these painful feelings, I decided to relive some of the positive moments that I had with my baby since she was born. I conjured up images in my mind of times that Laura seemed happy, when she appeared to be healthy, to counteract any possibility that she could be that sick.  As I replayed this well-baby movie in my mind, it allowed me to believe that Laura could not possibly be seriously ill even though we were on our way to a hospital.  Something is wrong with her heart. The new doctor’s words slipped back into my psyche and made me shutter. I found myself once again falling downward into fear, but brought myself back up again by reassuring myself that it must be a minor health problem, because Laura did smile and appeared to be happy sometimes. Happiness must equal health.

 I imagined the day that I brought Laura downstairs from her nap and placed her little wiggling body into her yellow cradle seat on the table in my porch art studio. With two space heaters on to keep her warm, Laura was cozy as she lay there right next to my palette watching me paint at my easel.  I read about the range of a new baby’s vision; at what distance their eyes could see from, at how many weeks old. I positioned Laura within the correct distance for her age that would allow her to actually see the painting, hoping that she would experience some infant-like pleasure along with me, as I joyfully painted with my baby girl at my side. Laura’s  gleaming brown eyes seemed to be watching my paint brush move across the canvas spreading colorful strokes of paint. These were magical moments; Laura being a happy baby and me being a happy painter.  I thought that life could not be anymore perfect. I felt truly blessed and happy to be a new mom, who was also defying the odds of being an artist mother who still found time to paint while taking care of her baby. I would delegate my time so that I could get in an hour or two of painting each day. I went out to the converted porch art studio to paint during Laura's morning nap, fed her when she woke, and then brought her into the studio to watch me paint for a bit while I finished up my painting session.  I made dinner and did laundry during Laura’s afternoon naps. All the baby books instructed new mothers to nap while your baby napped, and sleep when the baby sleeps. You'll need the rest to get through the day.  I got my painting and my chores done during nap times so that I could spend all of Laura’s awake time focusing solely on her, loving her in all the ways a mother loves her new baby. Life was good. But there was still this gnawing feeling that maybe it wasn’t. I couldn’t settle on which it was, since there was trailing uncertainty and worry for Laura’s well being, even in the joyful moments.  I was unsure of what was real and what wasn’t.  I had just been introduced to the concept that life is never one thing or the other.  I had no idea then, that I was being trained for what was to come, a lifetime of balancing the beautiful with the ugly, the light with the darkness, of finding joy in the sorrow.

I was jolted out of my thoughts as Paul veered the car into the right lane of the highway. We had just passed the famed gas tanks, just off the highway in Dorchester, with their big colorful splotches of abstract brushstrokes.  This was always our signal that Boston was near, when we took day trips into the city. Boston was filled with memories of our past, specifically the college years where we met and fell in love.  

Paul veered off the highway and made his way into the lane of Exit 18, Melnea Cass Blvd, in Roxbury.  The car proceeded toward Huntington Avenue and then onto Longwood Avenue, the same street where I attended Massachusetts College of Art. The Longwood building of Mass Art was situated at the end of the street adjacent from Boston Children's Hospital. It felt like a strange twist of fate that we would be here now.  When I was a student, I never really gave it much thought; that across the street to a building filled with budding artists was a hospital which housed many sick children. Paul pulled into the hospital parking lot as chills went up and down my spine. 

Ignorance is Bliss

I sat in the car as if frozen in place.  Fidgety, quick, efficient by nature, this was a foreign state for me. Paul was opening the door to get out of the car. The urgency to get Laura into the hospital as quickly as possible took hold of him. Not so fast, I thought as I looked at sleeping and effusively sweating Laura. 

"She's still asleep. Can’t we just sit here for a second?” I suggested, which is a strange thing to say in this context. I’m sure I really meant more than a second, at least a few minutes or more.  

I would soon learn that the whole concept of time in a hospital is different from the rest of the world. The clocks were slower there, especially when you hear bad news, or are waiting for surgeries to be over.  We would come to find out that seconds and minutes feel like hours, hours seem like days, and a week can seem like a lifetime when you are inpatient in the hospital.  But I did not know all this then. What I did know was that I was reluctant to enter a world of the unknown, and what that time period would reveal in the hours ahead.  

Somehow, I felt that our life would never be the same again once we knew what was really going on with Laura.  The car was a protective enclave, a place that represented this side of the great divide; of a healthy baby, and of an unhealthy one. Laura had been given a healthy diagnosis for 41/2 months and now we were going to hear otherwise. Even though we had our concerns, we were mainly living in a state of ignorance, only somewhat suspecting, but mainly not knowing one way or another what was really going on. 

The fearful feeling on our drive in, the wondering, remembering, and the second guessing now seemed like child's play, compared to us going forward into a real diagnosis. We would have to open ourselves up to the unknown.  Once you do this and actually know something, there is no turning back. It is true, I thought, ignorance is bliss.

#congenitalheartdisease