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The mystery of Cassandra.

I met Cassandra Giovanni early on the morning of her ninth day of life. She'd been brought into the pediatric emergency room at Jonas Bronck Hospital by her mother, who told the nurse at the triage desk that something was terribly wrong with her daughter. "She's not acting right," the mother said. "I put her to sleep last night, and she didn't get up to feed or anything. And then when I went to wake her up this morning, she was lying there like this. I can't get her to move, or to even open up her eyes." The triage nurse took one look at the little girl and immediately realized that Cassandra was critically ill. Without hesitation, she grabbed the infant out of the mother's arms and, holding the baby as if she were a football, yelled for the residents on duty to come stat, then ran to the back of the emergency room, to the critical-care area, the site where cardiopulmonary resuscitations were performed, and y down on the stretcher.

It became clear almost immediately that Cassandra was in profound shock and near death. Her heart was beating only about 40 times a minute, around a third of the number one would expect in a child of that age, and no blood pressure was initially detectable. The infant's body felt cold and stiff, almost as if she'd spent the night in a refrigerator; this impression was borne out by the reading of the thermometer that one of the nurses placed in the child's rectum: it registered less than 95 degrees Fahrenheit. Apparently, the mother had gotten Cassandra to the hospital just in the nick of time: the child was hanging on by a thread, and that thread was beginning to unravel.

An all-out cardiopulmonary resuscitation was begun: the senior resident in charge that morning worked on getting an IV into Cassandra's left arm, while another resident drew blood for baseline testing from the infant's right arm; the ER's head nurse glued cardiac monitor leads to Cassandra's chest; and the nurse who had first seen the infant at the triage desk hooked the girl up to an electrocardiogram machine. Once the IV was affixed in place with adhesive tape, the senior resident injected a dose of atropine, a drug that increases the heart rate. Next, in an attempt to expand the girl's volume of circulating blood, a bolus of normal saline solution was forced through the IV tubing and into Cassandra's vein. The effects of these two maneuvers were obvious almost immediately: the beeps emanating from the cardiac monitor became more frequent, rising to 60, and then 80, until they finally surpassed 100 beats per minute, signaling that the girl's heart rate had returned to an acceptable range; checking the blood pressure again, the head nurse found that this time it was not only recordable, but was just slightly below normal. And then, within another minute or two, Cassandra opened her eyes for a few seconds and let out a weak cry. That was all the ER staff had to see. At that moment, they knew that the resuscitation had been a success; the infant was now stable enough to be transferred up to the pediatric floor.

Cassandra had apparently come into the emergency room severely dehydrated, and had been in hypovolemic shock (that is, shock caused by a deficiency of circulating blood volume). Although the shock had been relatively easy to diagnose and treat, the cause of the dehydration wasn't so obvious. But the ER staff didn't have to worry too much about that; figuring out the girl's underlying problem would be the job of the people upstairs, the staff assigned to Jonas Bronck's pediatric ward that month. So once it was clear that the infant had been adequately stabilized, the senior resident in charge of the ER called the senior resident on the pediatric ward and asked him to send down the intern who was next in line for an admission.

That intern was Mike Weinstein, the doctor to whom I'd been assigned less than a week before. I was a third-year medical student, doing my first clinical rotation and anxious for patient contact. So when Mike told me there was an admission waiting for us down in the ER, I was raring to go.

When I first saw her, Cassandra still looked to me as if she were about to die; she was definitely the sickest patient I had ever laid eyes on up to that moment. A large baby with a puffy reddish face, we found her lying limp on the stretcher on which she had been placed at the start of the resuscitation, hooked up to an oxygen mask, an IV bag, and the cardiac monitor, which continued to beep about 120 times per minute. Her mother, a thin, sickly-appearing woman with long, stringy brown hair, stood hunched over the stretcher, sobbing quietly as she looked down at her daughter. After briefly taking in this scene, Mike and I sought out the senior resident; we found him in one of the ER's treatment rooms, beginning to examine another patient. When he saw us at the door, the resident excused himself and slipped out of the room. He told us as much of the girl's history as he knew: what had brought her to the ER, and what they had done to stabilize her. Then, looking straight into Mike's eyes, he asked, "What do you think's wrong with her?"

"I guess the first thing I'd be worried about is an infection," Mike replied, without any hesitation. "Regardless of what else we find, we have to treat her as if she's septic."

"I don't understand," I butted in. "She doesn't have a fever, does she?" I'll admit I didn't know much at that point, but I did know that people who had serious infections, such as sepsis, an overwhelming bacterial infection of the bloodstream, were supposed to have very high temperatures. "How could she have a serious infection if she doesn't have a fever?"

The senior resident looked at me for the first time. "Who's this?" he asked the intern.

Bob," he replied, "my medical student. This is his first rotation."

Oh," the resident responded, as if this explained everything. "Well, Bob, it is true that adults and older children get fever with infections, but babies frequently don't." Then turning back toward Mike, he said, "I agree. I'm worried about infection too. What bug do you think she's got?"

"Well, she's at just the right age for Group B Strep, and her symptoms are right." I was later to learn that Group B Streptococcus is a bacteria that frequently inhabits the birth canal. If a fetus happens to come into contact with the bacteria, either during the birth process or prior to delivery, an overwhelming, life-threatening infection can result.

"I agree," the resident responded. "Group B Strep sepsis is definitely the first thing on my list too. So we've done all the work for you: we've cultured the kid up," meaning that the ER staff had obtained blood, urine, and spinal fluid samples to test for the presence of bacteria, "and we gave her a whopping dose of ampi and gent." ("Ampi and gent," I already knew, was residentese for "ampicillin and gentamicin," two commonly used antibiotics.) "So all you guys have to do is make sure her IV stays in and check her cultures once a day. Any other diagnoses you want to consider?"

"Well, I guess she could have some sort of weird metabolic disease," the intern continued. "It seems a little late for a lot of them, though. I'd have expected her to show some symptoms in the first couple of days of life if she had maple syrup urine disease or something like that."

"Maple syrup urine disease?" I thought to myself. "There's actually something called maple syrup urine disease?" Of course, I didn't say anything out loud; I'd been far too intimidated by my last exchange with the ER resident to risk another question. So I bit my tongue and just listened as the resident said, "That's true. And anyway, most of those things would've been picked up on the neonatal screen. So I think any of those metabolic diseases is unlikely.

"So the kid's probably septic," Mike concluded. "No other explanation makes any real sense."

After finishing our chat with the senior resident, Mike and I walked back to the stretcher in the critical-care area. The intern asked me to get some history from Cassandra's mother, while he made arrangements to take the baby up to the ICU. I immediately panicked; I had talked to the parents of some of my other patients, but those children had been relatively healthy, not at death's door, as this baby appeared to be. I had no idea what I could say to this distraught woman, who was still hovering over the stretcher, still sobbing to herself, that could possibly make her feel the least bit better, that could possibly reassure her that everything was going to be all right with her daughter. The fact of the matter was that, so far during my medical school years, I'd been taught about physiology and pathology, I'd sat through endless lectures on anatomy and histology and biochemistry and genetics, but I had not been exposed to a single minute of instruction on what a doctor is supposed to say to the parents or other family members of a patient who is critically ill or dying. But I had been assigned this task by my intern, and I didn't want to disappoint him. So trying to remain calm and put these thoughts out of my mind, I approached the woman and introduced myself.

"She's going to be all right, isn't she, Doctor?" Ms. Giovanni asked.

Hemming and hawing, rambling on barely coherently, I told her that we really couldn't answer that question right then, because we weren't exactly 100 percent positive what was wrong with the baby, and that we were doing all sorts of tests that would give us more information, but that it might be a few more days before we knew anything for sure.

"It's all my fault," the woman said immediately. "It must have been something I did that caused this. She's my first baby, I've never been around children before, and I don't know what you're supposed to do with them. It must have been the bath I gave her last night. She vomited yesterday afternoon, and she didn't seem to be acting exactly right, but I gave her a bath anyway. I'm sure she got sick because of that. Or maybe it's the way I've been feeding her; no one showed me how you're supposed to feed a baby; they tried showing me while we were in the hospital, but I was too excited to listen. It must be the way I'm feeding her, or that bath. I'm sure I've done something terribly wrong."

"I don't think any of that could have caused what's wrong with the baby," I told her. In fact, I really didn't know; I had no idea whether a bath could cause a baby to become septic, or whether improper feeding techniques could have possibly been responsible for bringing on dehydration and shock, but I figured that it wouldn't be in either this woman's interest or my own to agree with her conclusion; and besides, logically, I couldn't see how feeding or bathing a baby could have caused any damage. "She must have been sick from the time she left the nursery," I continued. "Why don't you tell me the whole story from the beginning."

My reassurance seemed to calm her down a little, and she was able to give me the child's complete history. She explained that Cassandra had been a perfect baby until the night before. She had been discharged from the hospital at four days of age, kept an extra day because of a little bit of jaundice, and had done everything a baby was supposed to do. But on the evening before Cassandra's arrival in the emergency room, the woman noticed that the baby seemed a little sleepier than usual. "And then she didn't wake up at three o'clock like she usually does," she continued. "And then this morning . . ." She started crying again, not able to utter another word. At that point, Mike reappeared. He had finished making all the necessary arrangements, and after introducing himself to Ms. Giovanni, he, the nurse who had been guarding the baby ever since she had first seen her at the triage desk over two hours before, and I began to move the stretcher bearing Cassandra-as well as the pole from which her IV solution was hanging, the cardiac monitor to which she was attached, a portable oxygen tank, and a small tackle box filled with equipment to be used in case of cardiac arrest-out the back door of the ER, down the corridor toward the bank of patient elevators, and up to the eighth floor, where the pediatric intensive care unit was located. Ms. Giovanni, still sobbing occasionally into a crumpled handkerchief, followed close behind.

Over the next two days- Cassandra rallied. In the ICU, she was monitored closely and treated with large doses of intravenous antibiotics, and slowly, her level of consciousness and activity returned to normal. Because of the vomiting on the night before her admission, she was given no feedings by mouth, receiving all her fluid requirements through the IV in her arm. And when the results of the lab tests that had been sent off at the time of the infant's initial emergency room treatment began to come back, they confirmed Mike Weinstein's impression: Cassandra Giovanni had been suffering from a serious, life-threatening infection in her blood. But oddly, the organism that had grown in the culture medium hadn't been the expected Group B Strep; rather, the baby's bloodstream was infected with the more unusual but equally virulent Escherichia coli.

E. coli, a bacteria that normally resides in the intestinal tract, actually serves a beneficial function in humans by aiding in the digestion of food. E. coli is the most common cause of bacterial infections of the urinary tract, but it is only rarely found in the blood of babies or older individuals. If caught in time, it is amenable to treatment, the majority of times responding to the widely used antibiotic Ampicillin. That this organism was found in the bloodstream of Cassandra Giovanni caused a small amount of concern to those of us who were caring for the child, but the fact was, she was responding terrifically to the treatment. By the morning of the third day after admission, Cassandra was stable enough to be transferred out of the ICU. She was sent to 8 East, where the child's formula feedings were reinstituted, and the antibiotics would be continued for a full ten-day course.

With the apparent recovery of her daughter, Ms. Giovanni's outlook also improved. She still looked tired, drawn, and sickly, but at least she had ceased her constant crying. She was relieved when I was able to tell her that the child's infection had in no way resulted from anything she had done to Cassandra following her discharge from the nursery. Now that the baby was on the ward, where visiting hours for mothers were unlimited, Ms. Giovanni spent most of her time sitting on a chair beside the baby's crib, holding her daughter in her arms, making sure not to disturb the IV through which the antibiotics were running, and feeding her bottle after bottle of Similac. Cassandra responded to Ms. Giovanni's attention by gazing at her face and hungrily sucking down any and all formula her mother offered.

Everything went extremely well with the baby and her mother, until the morning of the seventh day after Cassandra's admission. At about eight o'clock, just as our ward team was starting work rounds, the nurse assigned to her noticed that the child had a fever. Within ten minutes, her cardiac monitor alarm went off: the infant had suffered a complete cardiopulmonary arrest.

Having no idea why this had happened, our team sprang into action. The ward clerk announced a Code Blue over the loudspeaker system, and within seconds, people started running into the infant's room from all over the floor. The nurses pushed the ward's code cart from the treatment room to the side of Cassandra's bed and opened all the drawers; Mike began to perform chest compressions, pushing down on Cassandra's breast-bone with his thumbs to force her heart to beat about a hundred times a minute; Peter Uris, our senior resident, intubated the baby, passing an endotracheal tube through her larynx and down into her windpipe, to facilitate artificial ventilation; and after affixing an ambu-bag to the end of the endotracheal tube, Peter ordered me to pump the bag. Andy Stewart, the chief resident, appeared, and began ordering medications that the nurses drew up and shot through the infant's IV tubing. All of this occurred while Antoinette Giovanni, horrified, stood by watching.

We got her back. It took a while, and two full rounds of atropine, epinephrine, calcium, and bicarbonate, medications that reverse cardiac arrest, but eventually, Cassandra's heart and lungs began working on their own again, and her blood pressure gradually returned. When the code was finished and she was stable enough to be moved, her crib was pushed back into the ICU, and she was reconnected to all the monitors; blood, spinal fluid, and urine specimens were again taken, and sent back to the lab. And then the greatest minds of the pediatric department got together and tried to figure out what had happened.

"She's still septic," was the opinion of the chief resident, Andy Stewart. "She's got a bug that's not completely sensitive to the antibiotics she's on. We have to start again and treat her more aggressively."

"Yeah, she's definitely septic," Peter Uris agreed. "But don't you think it might be another bug this time?"

"It'd be hard to imagine how something like that could happen," the chief resident replied. "Unless she had some weird congenital immunologic deficiency. And those things are pretty rare. No, it's most likely to be a resistant strain of E. coli." "So what should we treat her with?" Mike asked. As the intern responsible for doing the work, he had to try to bring the discussion back from these lofty heights to a more practical level. "Add chloramphenicol"' Andy responded, mentioning an antibiotic that has a great many potential side effects, such as aplastic anemia (lack of formation of all blood elements because of failure of the bone marrow); Peter and Mike nodded their heads. After this conversation, I went out to find Antoinette. She was still in Cassandra's room on 8 East, sitting in the chair on which she had sat for so many hours over the previous few days, crying hysterically, saying, "My baby, my baby," over and over again. "She's O.K.," I told her, and she looked up at me for the first time since I entered the room. "She's all set in the ICU. They'll let you in to see her in a couple of minutes." "What's wrong with her, Bob?" she asked. "She was doing so well and then she nearly died again. Why did something like that happen? I'm so frightened." "The chief resident thinks it's because we weren't treating her infection aggressively enough," I explained. "We're adding another antibiotic. Everybody's convinced this'll clear things up for good." This seemed to raise her spirits a little. I led her down the hall, toward the ICU, where, after another minute, a nurse led her in to see the baby. Antoinette began crying again the moment she laid eyes on her daughter. I left her there like that and went to have a talk with Mike Weinstein.

He was sitting in the ICU's nurses' station, writing a note in Cassandra's chart. After apologizing for interrupting, I quietly asked if maybe there were things other than infections that might be causing Cassandra's problems. "Things like what?" he snapped at me.

"Well, I've been doing some reading," I replied meekly, "and I came across the fact that sometimes metabolic problems predispose infants to E. coli infections."

"Oh, so you've been doing some reading, huh?" he asked. "O.K., so let's hear it: what kind of metabolic diseases cause E. coli infections?"

Galactosemia," I replied.

Right," he said, slowly nodding his head. "At least you've been reading the right books. Now, do you really think it's possible that this baby has galactosemia?"

Sure," I replied. I had done a lot of reading about this disease. It was a rare, inborn error of metabolism, an autosomal recessively inherited disorder caused by the absence of a single enzyme, galactose-l-phosphate uridyltransferase. The enzyme is essential for the breakdown of galactose, one of two components of lactose, the sugar found in both human and cow milk. Without the enzyme, the infant cannot use the sugar, a main source of energy, and even worse, toxic levels of galactose build up in the blood, causing damage to many organs. "She's got this infection that's not getting better, she had low blood sugar when she first came in, she even had jaundice in the first few days. Those are all things that happen to babies with galactosemia. And it's easy to test for: all we have to do is get a sample of urine and-."

Absolutely," the intern cut me off. "You're absolutely right. But it's still impossible for this child to have galactosemia."

Why?" I asked.

"Because this is New York State. And in New York State, there's a neonatal screen for metabolic diseases that's done on every baby before discharge from the nursery. Since galactosemia's one of the diseases that's tested for, there's not a snowball's chance in hell that this kid could have it. But if you'd like to waste a couple of minutes of your precious time doing a Clinitest on this kid's urine to check for reducing sugars, be my guest!"

Feeling like an idiot, I left.the ICU and headed for the nursery. Finding one of the neonatal fellows, I asked very nicely if he would tell me about the screen. He explained that, on the third day of life, just before a baby is discharged to go home, a nurse, using a tiny lancet, pierces the skin of the heel. The few drops of blood that result are collected on a special piece of filter paper, which also contains the baby's name, the hospital of birth, and the home address and telephone number. These filter paper samples are collected at the end of each day and mailed to a lab in Albany, where the actual testing is performed. The fellow explained that, if an infant born at Jonas Bronck Hospital is found to have an abnormal screen, the director of neonataology is immediately informed, and tracking down that infant becomes his responsibility. The majority of babies found to be abnormal on the initial neonatal screen turn out., on subsequent testing, to be "false positives," having no real problem. But a small fraction of the babies found to have abnormalities on their initial sample will ultimately be found to have one of the dozen or so disorders for which testing is performed. "We take this stuff very seriously," the fellow explained to me, "because all of the diseases they test for are treatable with either medication or special diets. If they're not treated, the kids wind up neurologic disasters. So it's our chance to be real heroes. That's why we make sure to find and treat every single one of them!"

The neonatal fellow's explanation convinced me. There was no way Cassandra could have galactosemia. No way.

A little after midnight on the night after Cassandra had been sent back to 8 East, the cardiac monitor that was still attached to her chest began to alarm. Mike and I happened to be on call that night, along with Peter Uris, and we all came running. We found the girl with a heart rate of 25.

We worked on Cassandra for hours, most of that time in the cramped, overcrowded room on 8 East, but near the end, we managed to get her down to the ICU. We gave her round after round of medication; she was intubated and hooked up to a ventilator; we gave her a bolus of electrolyte solution, attempting to reverse dehydration, although no real signs of dehydration were present. We managed to get her heart rate up to about 70, and we got her a low blood pressure, but she never again breathed on her own and never regained consciousness.

At four o'clock in the morning, after everything had been tried and nothing had been very successful, Cassandra's heart gave out. She simply died, and there was nothing any of us could do to get her back.

There was an almost palpable feeling of gloom in the ICU. Andy Stewart, Peter Uris, and Mike Weinstein slumped down into chairs in the nurses' station, trying-to figure out why this had happened. I stood leaning against a storage shelf, listening to the conversation. "It doesn't make sense," Peter said slowly. "She got sick, came into the ICU, got better, went out to the floor, got sick again, came into the ICU, got better again, went out to the floor, and got sick and died. In the ICU she's healthy; on the floor, she crumps. It just doesn't make sense."

"How is being on the ward different from being in the ICU?" Mike asked. "Answer that question, and we'll probably know why this happened."

That's when the light bulb went on in my head. Without another word, I left the nurses' station and walked over to the crib that held Cassandra's body. With a syringe, I sucked a 3 cc sample of urine from the bag that was connected to the catheter that had been placed in Cassandra's bladder at the start of the resuscitation. With the syringe in hand, I walked to the ICU's small laboratory. I took a glass tube, placed a Clinitest tablet into it, and, following the instructions posted on the lab's wall, added three drops of urine and three drops of tap water to the tube. An immediate chemical reaction began. The fluid began to fizz and change color: in five seconds, the liquid was green; in fifteen seconds, the liquid turned dark brown.

Still with the tube in my hand, I walked back into the nurses' station. All three doctors looked up. They saw the dark brown color in the test tube. And all, as one, said a single word: "Galactosemia."

Now, 13 years later, I still have trouble believing all this really happened. It's not just that she was the first patient I ever cared for who died; it's much more than that. The death of Cassandra Giovanni should have never occurred, certainly not in the way it did; she died as the result of a series of mix-ups and blunders; she and her mother, inexplicably, had fallen through a series of nooks and crannies that run through the huge and Unwieldy medical care delivery system. And she died because I had been intimidated by my intern, because I had allowed myself to be put off by an assumption that should never have been made.

In checking it out over the next few days, I discovered the reason why Cassandra had not been found, on the neonatal screen, to have galactosemia. It wasn't because the test was faulty or unreliable; rather, it was because a sample of her blood had never been received in the state lab in Albany. It might have been because the blood was never taken; it might have been because the filter paper sample had never been sent, or had been lost in handling, or had been thrown away before it was logged in, but when I called to ask for the results, I was informed by a very concerned lab technician that not only was there absolutely no record of a sample taken from any infant named Giovanni who had been born at Jonas Bronck Hospital on Cassandra's birthday, but there had been no infants in the state who had been found to have galactosemia in the past few months.

After that first blunder, the others fell smoothly into line; because we had come to rely on the neonatal screening program, it had been assumed that no child with galactosemia could possibly escape detection. So in Cassandra's case, the diagnosis was never really seriously considered. And even when I suggested the diagnosis to my intern, even though I knew that only a simple urine test was needed to confirm the diagnosis, I hadn't done it. I hadn't had the courage or the confidence in myself to follow through until after it was too late; and quite probably, my failure had caused this infant her life. But the mix-ups didn't stop there. Despite the missed diagnosis, there was the chance that some good might have come of all this. Because galactosemia is an autosomal recessively inherited disorder, it meant that both Antoinette and the infant's father were obligated carriers of an abnormal gene, and that the potential existed for the same thing to happen to their children in the future. The two of them needed genetic counseling. But providing it proved to be impossible.

I never saw Antoinette Giovanni again. She returned to the hospital around eight o'clock, four hours after Cassandra had died. Upon seeing the empty space where Cassandra's crib had stood, she began to scream. A nurse came running and, without saying a word, led the mother into the ward's family room. Andy Stewart broke the news to the woman. She was inconsolable for over an hour, an hour during which I was off in the on-call room, sound asleep. And then, after hastily signing a permission-for autopsy form, the woman left the hospital and apparently walked off the face of the earth.

I can still vividly remember the moment during the predawn morning when the connections finally came together in my head. In an instant I understood that, in spite of what my intern and other superiors on the staff had told me, Cassandra Giovanni had become sick every time she'd been transferred back to pediatric ward not because she had received shoddy care, but simply because that was when her diet of infant formula, her source of toxic galactose, had always been resumed. It was from that moment that I learned to trust my own instincts and to not be intimidated by what others who are older and possibly wiser than me might believe. And whenever I'm attending on one of the pediatric wards, I make sure to tell the interns, residents, and medical students about Cassandra, and to teach them the lesson I learned from her. By telling and retelling her story, I like to think I'm helping to ensure that what happened to Cassandra never happens to another child.
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Title Annotation:newborn dies of undiagnosed illness
Author:Marion, Robert
Publication:Saturday Evening Post
Date:Jan 1, 1991
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