THE FLIGHT FROM VIETNAM to Los Angeles seemed endless. Rachel Stein held Shira, her infant daughter adopted just days before in Phu Tho, on her lap, but neither slept. The infant had a cough and refused to take even a few sips from the bottle. Rachel walked up and down the narrow aisles, rocking Shira and singing in an effort to calm her enough to drink and then sleep. ‘But the playful notes of Rachel’s favorite Cole Porter tunes were of no comfort.
Rachel Stein originally had set her sights on business: she got an MBA and quickly climbed the corporate ladder in finance. But in her early thirties, when she had reached a high rung, she stalled. A sense of emptiness weighed her down. Every time she thought about the next step, she felt she lacked the energy and balance to reach it. So instead of looking up, Rachel looked back. And what she saw she didn’t like at all.
Business, Rachel concluded, was daily conflict. The single measure of success was money. Rachel wanted her life to be grounded in something else. She came from a family that did not observe many traditions, but did encourage personal prayer. For months, Rachel questioned God about what to do with her life. Then she realized the answer was the conversation itself. She would study religious concepts and commandments and seek to live a life in which generosity and caring were paramount. She quit the boardroom for the classroom.
Rachel entered a seminary, and over time her faith took form. She emerged an ordained rabbi, but realized that the pulpit was not for her. Instead, she became a manager at an institution of higher Jewish learning and applied her financial skills to its success.
As Rachel approached fifty, she felt another void in her life. Her pursuit of God, she realized, had left her little opportunity to pursue marriage and family. She was an attractive woman with jet-black hair and deep-set amber eyes. But in the congregation where she prayed and the institution where she worked, there were few single men of her age. After much thought, she decided to adopt a child and build a family as a single mother. Women like Rachel face formidable difficulties in adopting newborns. Agencies typically seek two-parent families. Moreover, since most birth mothers are themselves unmarried, they reject the idea of another single woman receiving their baby. Only two countries readily allow assignment of infants to middle-aged single women: Vietnam and Guatemala.
In January 2OOl, Rachel completed the detailed supporting documents and sent them to Vietnam. The agency in the United States coordinating her application said that her “assignment” might come in March or April. But these months passed without a response, and her spirits began to sag. Then, in early June, she was informed that a baby girl, born on April 26 in the town of Phu Tho, some fifty miles north of Hanoi, was available.
Rachel was eager to learn mote about the child. The American agency cautioned that getting information usually took many weeks, but within a few days a small folder arrived. In it was some information about the baby, Hoang Thi Ha, and a photograph.
The infant had a nest of black hair and high cheekbones, and she looked robust and content. Rachel was told to plan a trip to Vietnam in September, when the child would be six months old. But in July, out of the blue, she got word that she should be in Hanoi in two weeks. Although the Vietnamese authorities had not yet finished processing the last of the paperwork, the orphanage wanted Rachel to come anyway. Rachel flew first to Los Angeles, joined up with her sister-in-law and then both traveled to Taipei and finally Hanoi.
It was a mercilessly hot morning when Rachel emerged from the plane. Veils of thick vapor cloaked the tarmac. Rachel was met by an agency representative in a small white Peugeot who drove her into the city. Along the streets, vendors cooked fish and vegetables in large woks, and laborers in conical hats carried loads on bamboo poles balanced across their shoulders. As the car entered downtown Hanoi, it was surrounded by hundreds of people on bicycles on their way to work. Rachel thought of herself as a pebble carried in a fast-flowing stream to its destiny.
Although prospective parents usually rested upon arrival, Rachel’s adrenaline would not let her relax. She had to meet her daughter. The orphanage was housed in a low white concrete building set back from a dusty road. Six to eight metal-frame cots filled each room. The green-painted walls were cracking, and the linoleum floors were worn. But, Rachel observed, the surfaces were clean, and the women attending the children treated them with care.
A woman in white nurse’s garb pointed to a baby with spindly limbs in one of the cots. “Ha,” the nurse said. Rachel was unsure what she meant. The baby was thin and didn’t, at first glance, resemble the infant in the photo. “Ha?” Rachel replied. The nurse picked up the child. “Ha,” she said again, and pressed the baby to Rachel.
Rachel held the child. For three years she had imagined this bad news: an x-ray showed pneumonia involving both lungs. “First we’ll put an IV in, to give fluids. Once she gets hydrated, maybe she’ll perk up.
Rachel stood in numb silence. A nurse held Shira down on the
examining table as the resident began to thread a thin needle into a vein. But within seconds, the infant’s face turned dusky and her skin mottled, The resident’s eyes widened with alarm.
“She’s de-tuning,”, he said to the nurse.
All at once, a frenzy of activity engulfed the child. Blood was drawn, a mask fitted over her face, and a large ambu bag attached to The mask to force air into her lungs. “Her pressure is falling. Give her a bolus of IV fluid,” the resident ordered.
Rachel didn’t know what a “bolus” was, or what “de-tuning” meant, or why holding down her baby for a few seconds had precipitated a crisis. Another nurse soon entered the room with the results from the blood tests. “Her O2, saturation is seventy,” she said.
The resident explained to Rachel that Shira’s pneumonia was so severe that it was preventing her from getting enough oxygen to cope with even the most minor stress, like fussing while being held. “She needs to be in the ICU.”
Rachel felt as if she were on one of those amusement park rides that spins you around in circles, turns you upside down, then flings you to the edge of the rail so your eyes blur, your stomach heaves, and your mind goes blank. “I . . . I . . . don’t understand…”
The resident placed the chest x-ray on the light box attached to the wall. “This is the heart,” he said, tracing a white shape in the center of the chest that looked like a giant teardrop. “Around the heart are the lungs. They should be black on the x-ray, because normally they are filled with air and the x-ray beam passes, through.” Rachel looked at the lungs. They were almost as opaque as the heart. She felt her throat tightening. “Instead, the lungs are what we call ‘ground glass’ in appearance.” Rachel wasn’t sure whether the lungs resembled ground glass or a snowstorm. What she needed to know was what it meant for her baby.
“We’ll cover her broadly with multiple antibiotics and add an antifungal agent because of what we found in her mouth,” the resident said. “And for now, we’ll give her oxygen via prongs that fit in her nose.
“What could it be?” Rachel asked.
“It could be anything,” the resident replied. “Something common, like a virus, or something unusual, from Vietnam.”
Over the next twenty-four hours, the pneumonia moved through Shira’s lungs like fire through dry brush. Her thin chest, not much bigger than the width of Rachel’s open hand, heaved desperately in the quest for more air. “We can’t sustain her oxygen with the nasal prongs,” the resident told Rachel. “We need to put her on a respirator. You probably want to leave the room when we place the tube down her trachea.”
Rachel looked plaintively at the young doctor. She knew that she could not leave her daughter’s side even for a moment. Whatever needed to be done, no matter how harrowing, she wanted to be there. Rachel explained this to the resident. He nodded kindly and said he understood.
Rachel stepped aside as the ICU team began to work on Shira. A nurse firmly held the baby’s shoulders while another braced her legs. The resident tilted up her chin and deftly inserted a metal instrument to depress her tongue and illuminate the back of her throat. “I can see the cords,” he said. The tube had to be passed beyond the vocal cords into the trachea. A few millimeters off this trajectory and the tube would go into the esophagus, blocking the infant’s airway. It took several attempts until the tube was correctly placed. Rachel felt as if a fist were clenched around het heart, and with each try, it tightened. She fought to maintain her composure.
Normally, the air we breathe is 20 percent oxygen and the remainder largely nitrogen with a small amount of carbon dioxide. Our lungs are built like a honeycomb, and the sacs in this honeycomb are called alveoli. The oxygen we inhale passes through the thin wall of these alveoli into the bloodstream. When bacteria and mucus fill the lungs, as in pneumonia, it is difficult for oxygen to pass through the clogged sacs into the blood. Without oxygen, of course, we cannot live. At reduced oxygen levels, tissues struggle to perform their functions. Over rime, some of the oxygen-starved tissues weaken and die. This can have debilitating complications -like heart or brain damage, Preventing tissue loss and organ damage in cases like Shira’s would seem simple: set the respirator to deliver pure oxygen through the tube and literally push the gas under pressure through the muck in the lungs. But this approach has limits. Raising the concentrations of oxygen to high levels is toxic to the alveoli, worsening inflammation and risking permanent scarring of the delicate tissue. And high pressure exerted to force the oxygen through the clogged alveoli can rupture them, causing the lungs to collapse. Still, there is little choice in cases like Shira’s. The risks of high pressure and high concentrations of delivered oxygen have to be taken.
Throughout the day, the ICU team set and reset the respirator, delivering 60 percent, 70 percent, 80 percent, and then 90 percent oxygen, Simultaneously, the team dialed up the pressure to force the gas through. Finally, in desperation, Shira was given 100 percent oxygen at maximum pressure.
Still, not enough oxygen was reaching her bloodstream. A repeat chest x-ray showed that the “ground glass” was more opaque, meaning the infection was spreading. Bactrim was added to the initial set of antibiotic and antifungal agent. The resident explained to Rachel that Bactrim was the best treatment for Pneumocystis pneumonia. The examination of sputum and the chest x-ray picture were consistent with it. The disease is common in AIDS patients: AIDS was very prevalent in Southeast Asia.
Shira had been tested for HIV in Vietnam: The authorities assured Rachel the test had been negative, Could the unusual pace of the adoption – the rapid processing of the application, the call to appear in Vietnam soon thereafter, the permission to leave in days rather than a month – mean that the orphanage knew something was wrong with this baby? That her mother had AIDS?
Through her years in the business world, Rachel had learned to read people with a clear and discerning eye. Without that skill you were defeated in your deals. Someone was always ready to take advantage. Rachel didn’t want to believe that was the case here. The gentleness and care with which the people at the orphanage handled each infant, the elaborate ceremony during which Shira and the other babies were “entrusted” as “treasures,” did not suggest deceit. Perhaps, Rachel thought, the unusual efficiency and speed of the adoption were simply the work of a bureaucrat eager to clear a stack of papers off his desk during the steamy summer months. Or perhaps it was God trying to give this infant every possible chance to survive, knowing that Rachel would deliver her to one of the best pediatric hospitals on earth.
It was evening, and a somber quiet settled over the ICU. The oxygen level in Shira’s blood was still low, “We’ll try Hi-Fi,” the ICU doctor told Rachel. Hi-Fi stood for high-frequency ventilation. Essentially, a machine would now push the oxygen into Shira’s lungs at an even faster pace. It was the best any respirator could do.
Some hours later, Rachel left Shira’s side to call her sister, the pediatrician. As she was talking, the ICU doctor walked over. His eyes were downcast. “It’s not working,” he said. “Even the Hi-Fi can’t get her oxygen up.”
Rachel relayed this news to her sister.
“She’s critical,” her sister said. Rachel’s chest tightened.
“She’s deteriorating quickly,” the doctor said. “We may lose her.”
Rachel acknowledged the reality but could not accept it. She believed with all her heart that God had meant for her to have a child, this child. Nothing that had happened had been regular. Yes, she had to admit, it was possible that the orphanage in Vietnam knew something was wrong with this baby, that the usual slow grinding of the bureaucracy had somehow flown like a well- oiled wheel, propelling this new life into her arms. But even if true, it no longer mattered. Because now Rachel, the mother, had to do everything she could to stop death from wrenching her daughter away.
Rachel had not slept for days, had eaten little. She had been cast into the ocean of illness, a vortex of calamity sucking her down deeper and deeper. In Los Angeles it seemed to be simple sinusitis, then in the ER more serious dehydration, then pneumonia, then in the ICU the respirator, and now Hi-Fi. But the child’s oxygen kept falling, and Rachel saw in her mind’s eye a dead baby – if not dead, then functionally dead, so brain-damaged that she, could not speak or see or hear, that she would be incapable of love.
Rachel called her family in Los Angeles for advice. With her sister’s voice in one ear, the ICU doctor’s in the other, bracketing the image of a lifeless Shira, she finally broke. Rachel started to shake. Her jaw clenched, her throat constricted, her breath came fast and short. Then her knees started to buckle.
God, help me.
Rachel struggled to hold on. The shaking intensified, and she felt she would shatter into a thousand pieces.
God, where are You?
Rachel knew what was happening. It had happened twice before, when a person she loved was lost to her. She had fallen apart, unable to function for weeks. Straining, she summoned fragments of Psalms, silently pressing her mind onto each phrase.
In distress … I call unto You.
When… my foot slips… God supports me…
But her tremors continued. They seemed to move out from her bones and explode through her skin. Rachel felt outside of her body, as if watching a film in which she was being blown apart. She focused all of her force on steadying her limbs and slowing her breath.
God, give me strength.
The young doctor was standing before her. “Are you okay?”
He gently took Rachel’s hand and guided her to a chair. He held her arms as she slowly lowered herself into the seat. She raised her head. She looked at the young doctor with her own eyes, from within her body.
“I’m … I’m … okay.”
”There is one last resort,” the ICU doctor told Rachel. “ECMO.”
Rachel’s thoughts moved slowly. “What is ECMO?” she asked in a whisper.
ECMO, he explained, stands for extracorporeal membrane oxygenation. It is a process whereby Shira’s blood would be freshened with oxygen outside her body – thus “extracorporeal” – via a specialized machine. First an incision would be made in her neck and a large catheter inserted to drain the blood out of her veins into the machine. Inside the apparatus, the blood is percolated over a broad porous membrane. Then oxygen is pumped up through the membrane into the blood. At the exit, a pump returns the oxygen-enriched blood to the body. In essence, ECMO acts like an artificial lung and heart.
Rachel strained to assimilate all this information. She asked the resident to repeat what he said. He did. Then he said there were risks and complications to the procedure. Clear in its purpose, elegant in its engineering, ECMO nonetheless has limitations. Inserting catheters into large vessels and passing blood through a machine opened the door to infections despite the best precautions. Infections seeded in the blood could be fatal. Moreover, the artificial membrane in the machine cannot be made perfectly smooth. Small clots could form on the membrane’s imperfections. Pumped back into the patient, these tiny clots could clog the arteries, causing brain or heart or kidney damage. ECMO was a stopgap measure. A person could not stay alive on ECMO forever. Eventually, the lungs had to recover.
Rachel knew what had been left unsaid. If the lungs did not recover, the person was disconnected, and died. Rachel looked at the clock. It was nearly 11 P.M. The resident handed a consent form with Shira’s name on the top. Rachel read the document. It reiterated what the resident has just said. She looked at his eyes. They said Shira was near the end.
A nurse readied Shira to be moved from the ICU to the ECMO suite. She disconnected the tube in Shira’s mouth from the Hi-Fi respirator and immediately reconnected it to a large ambu bag that resembled a football. Pure oxygen flowed into the ambu bag at one end, and the and the nurse squeezed it by hand to move the oxygen out the other end into Shira’s lungs. Two orderlies arrived to wheel the bed and the accompanying army of instruments – the intravenous lines with antibiotics and saline solution, the cardiac monitor charting the rate and rhythm of the heart, the oximeter displaying in large red digits the level of blood oxygen.
“What’s going on?’ the resident asked.
The nurse lifted her head as she kept pumping the ambu bag. Rachel looked nervously at the doctor. Now what was wrong?
“Look at the oximeter!” he explained.
The nurse and Rachel simultaneously gazed at the neon reading of Shira’s blood oxygen. The digits were increasing. Each squeeze of the ambu bag inched the number up, like a climber scaling a sheer cliff by dint of will.
“Put her back on the respirator,” the resident told the nurse. “Let’s give her another chance.”
Rachel put her pen down, the consent form unsigned. She closed her eyes. A verse from Psalm 27 came into her mind.
Hope in God.
Strength and courage will be in your heart…
Shira was reattached to the Hi-Fi. Rachel stood for a long time at the bedside, hypnotized by the metronomic back-and-forth of the machine. Her child had gone to the very edge of existence. And then a bridge, in the form of an ambu bag, squeezed by a nurse’s hand, had unexpectedly led her back.
Rachel realized then what all doctors and nurses should know, that every clinical event has a core of uncertainty. No outcome is ever completely predictable. Rachel prayed for the courage to engage that uncertainty. She would learn everything possible about Shira’s case, and, respectfully, question each and every assumption about the diagnosis and treatment. It wasn’t because Rachel didn’t appreciate the skill and devotion of the doctors or the hospital; this was an extraordinary ICU team in an extraordinary institution. It was because God did not make people omniscient.
Rachel Stein lived near the synagogue I attended, and came there to pray on Saturdays when she didn’t make the long walk to her regular congregation. We spoke occasionally, and I knew she was in the process of adoption. That mid-August Sabbath in synagogue after the service concluded, I heard that her child was in the ICU. I decided to visit the first chance I could.
Children’s Hospital is a short three blocks from my lab, surrounded by a warren of towering research buildings. It was a stifling afternoon, and the heat radiated from the concrete in waves. I took the large lumbering elevator to the pediatric ICU, introduced myself to the head nurse, and asked for Rachel Stein. “She’s with the doctors. They’re in the middle of a procedure on her child. I’ll tell Ms. Stein you’re here.”
I surveyed the ICU, the focused faces of doctors and nurses. I had a special admiration for them. In medical school my pediatrics course was divided between a morning outpatient clinic and afternoon rounds in the inpatient ward. In the morning clinic, I saw scores of children with ear infections, strep throats, eczema, and other common problems. It was fun to amuse the kids and talk with the parents while remedying these minor ailments. But the ward was a different matter. At the end of each afternoon, after attending to the ward’s children with terrible diseases – deformed hearts that hardly pumped, cystic fibrosis crippling lungs and intestines, tumors that grew despite radiation and chemo- therapy – I returned to my dorm room sick with despair. I did not have the emotional reserve to witness and absorb the suffering of these children or to comfort their anguished parents. I had found my limits as a doctor. Since that time, I have viewed those who care for children with a special respect and awe.
”I’m sorry to keep you waiting,” Rachel said. Her face was a mask of worry, her eyes puffy, the lines in her brow deeply drawn.
It was no problem, I replied, and took her hand in mine.
Rachel explained she had insisted on knowing every detail of Shira’s condition, so the ICU doctors and nurses invited her to make rounds with them, sharing what they knew and what they didn’t. Pediatricians, as Victoria McEvoy emphasized: try to partner with parents, and Rachel said she was made to feel she wasn’t a burden. After rounds, Rachel went on the Internet or called her sister the pediatrician to pursue further the particular issues the doctors and nurses discussed. But at the end of each day, an unanswered question loomed over the doctors and Rachel: Why was Shira’s immune system so weak that it could not prevent Pneumocystis, a life-threatening pneumonia?
“The HIV tests came back negative,” Rachel told me. Shira definitely did not have AIDS. While Shira’s T-cell count was somewhat low, Rachel continued, the major problem was that they weren’t working. Her T cells couldn’t muster the slightest response when challenged by microbes in the test rube. This paralysis of her immune system made her susceptible to a multiplicity of devastating infections.
In addition to the Pneumocystis, the cultures from Shira had shown cyromegalovirus, or CMV. This highly destructive virus not only can infest the liver, lung, and bone marrow, causing hepatitis, pneumonia, and a reduction in blood counts, bur also can grow in the retina, risking blindness. Next was Klebsiella. This bacterium causes widespread inflammation in the lungs. The sputum it generates is called “currant jelly,” because it is so viscous and bloody. Then there was Candida albicans, the fungus seen in Shira’s mouth in the ER. Now it was growing in other orifices.
I counted in my mind four deadly microbes: Pneumocystis, CMV, Klebsiella, and Candida. Then Rachel told me of a fifth: parainfluenzae. The doctors informed her there was little they could do – no specific therapy existed against this virus. “The working hypothesis is that Shira has an unusual, atypical form of SCID,” Rachel said. SCID is an acronym for severe combined immunodeficiency disorder. It is a rare inherited disease caused by the absence of a key part of the machinery of the T cells. This results in low numbers of T cells, and even those remaining do not work effectively. The gene for the disorder is carried on the X chromosome. Because males have one X chromosome, inherited from their mother, the disease is mostly seen in boys. Girls, who are XX, with· one X chromosome donated from each parent would have to inherit two defective genes. In Shira’s case, it would require that both her father and her birth mother carry the trait. The doctors said it was rare for a girl to have SCID. The fact that Shira’s T-cell count was only somewhat low made her an “atypical” case.
“You haven’t seen Shira yet,” Rachel! said. “Come, you’ll meet her. She’s a beautiful baby.” At the entrance to the room, we put on sterile gowns, gloves, and masks to limit the transfer of microbes from our hands, clothes, and mouths to the defenseless infant. The bed was surrounded by machines and equipment – the Hi-Fi respirator, cardiac monitor, oximeter, intravenous pumps. On a small table was a pile of books. During the rare quiet times of the day, Rachel read to Shira.
I gazed down at the infant. She was turned on her side to accommodate the stiff tube in her mouth, which was attached to a large corrugated hose that led to the Hi-Fi respirator. The settings showed that the machine was delivering the maximum concentration of oxygen under the highest possible pressure. I looked at the red numbers on the oximeter and saw that this was barely enough to sustain her blood oxygen. “She’s a beautiful child,” I said. And she was. Looking beyond the tubes and catheters that entangled her, she had fine sculpted features, unblemished skin, and delicate limbs.
Rachel nodded. “Shira is going to live,” she said. “I can feel it inside of me.”
Glancing again at the numbers on the oxygen monitor, I said nothing.
Every morning and every evening, Rachel told me she stood next to Shira’s bed and prayed. She read from a pocket-sized prayer book, well worn from daily use. Years ago, she had inserted a prayer of her own. It spoke to what she personally sought from God:
Having been created in Your image
I am full of unrealized potential
The realization of which
Depends upon my acknowledgment of the potential,
My recognition of all the gifts from You with which I am endowed,
And my exploitation of the opportunities that lie open before me.
Please Lord, help me rise to meet the challenge.
Let me use those gifts for the benefit of all people.
For all that I am
And all that I can be
I thank You.
Never before did Rachel pray with such fervor for help to “rise to meet the challenge.”
“What could cause a baby to have so many infections other than AIDS or SCID?” Rachel asked.
”I’m not sure. I’m not an expert in this area.”
Rachel trained her amber eyes on mine. “I know you’re not. Neither am I.” But she explained she had been looking on the Web, and after learning about SCID and talking with affected families online, she was growing convinced that Shira had something else. “I think it’s a nutritional problem causing her immune system to not function.”
When Rachel had raised this idea, one of the residents mentioned reports of malnourished infants whose immune systems collapsed and who developed Pneumocystis. Several cases occurred in Tehran in the early 1960s, and in Vietnam between 1974 and 1976, when the country was in the final throes of war and food was scarce. Bu, the resident emphasized, while Shira was a slim baby, she did not fit the picture of severe malnutrition – essentially skin and bones – described in those reports. He dismissed the possibility.
I reiterated that I really didn’t know enough to offer opinions about children. My understanding was that in adults, the immune system collapsed only in cases of extreme starvation.
“Since the consensus is atypical SCID,” Rachel said, “there’s talk of doing a bone marrow transplant.”
Bone marrow transplantation is the most extreme measure in medicine to cure a disease. In essence, a person is given lethal doses of radiation and chemotherapy doses that destroy the blood and immune system. Into this vid, stem cells from the bone marrow of a compatible donor are seeded. These marrow stem cells have extraordinary biological potential. They grow and mature into all of the elements that have been destroyed: red blood cells, neutrophils, monocytes, platelets, T cells, and B cells. As the donor stem cells grow and mature, they begin to perform the chores that immune cells are programmed to do. Primary among these is to recognize foreign invaders, like microbes, and to purge them. That was precisely what Shira needed at this point: cells that could recognize, confront, and destroy Pneumocystis and Klebsiella and CMV and Candida and parainfluenzae.
Yet within this promise of biological resurrection was also the potential for biological rebellion. Immune cells are also programmed to recognize foreign tissues as well. The patient’s new immune system can perceive the surrounding body as foreign. The transplanted T cells then go on the attack against vital organs like liver and skin and bowel. This is so-called graft-versus-host disease, because the grafted donor cells are pitted against the recipient host tissue. If the donor and patient are genetically closely matched, like siblings, graft-versus-host disease is mild. If they are genetically disparate, however, it can be severe. In that case, after a successful transplant, just when life seems to be restored, the very procedure that renewed life spirals into debility and death.
After I left, Rachel decided to proceed on parallel tracks. She would continue to pointedly question the diagnosis of SCID while helping prepare for its treatment. She e-mailed the agency in Vietnam and informed them of Shira’s need for a donor. The next day the officials replied that the birth mother had readily agreed to be genetically typed. Blood would be drawn to see how closely her cells matched Shira’s. The doctors were pleased, but Rachel found little comfort in this reply.
Shira struggled to live. There were hours when she seemed to improve, her oxygen level rising. Then, for no apparent reason, she would deteriorate, the neon numbers on the oximeter plummeting. At each downward turn, Rachel felt trembling in her bones and the pace of her breathing quicken. She closed her eyes and prayed intensely, and the feelings gradually subsided.
Then, slowly over the course of the next week, Shira’s oxygen level began to rise consistently. A chest x-ray showed that the ground glass was receding; a black penumbra surrounded the heart like the night sky around a pulsating star. “It looks like we can try to wean her,” the resident said cautiously.
Rachel could not believe her ears. Weaning here did not refer to the breast, of course, but to the life support of the respirator. Every few hours, the ICU team dialed down the pressure and the level of oxygen. Then they waited, observed Shira, rechecked her blood oxygen. All the while, Rachel sang. She sang show tunes, Cole Porter, children’s songs – playful, lilting, carefree melodies. And when Shira struggled, her chest heaving, her arms tensing, Rachel sang more forcefully.
After thirty-three days in the ICU, Shira was breathing room air through me respirator, without added pressure or added oxygen. The doctor extracted the tube from the baby’s throat and the machine was shut off. The loud woosh of the respirator that had filled every moment of the day and night suddenly was gone. Rachel savored the silence. Her tears slowly collected as Shira comfortably inhaled and exhaled. Rachel had not broken. If a transplant was necessary, she would endure that harrowing treatment as well.
Shira was transferred to a regular hospital ward to await the bone marrow transplant. Rachel felt as if she had stepped through a looking glass into a different world. On the ward, she and Shira were largely left alone through the day. Nurses came on every shift to check viral signs. The dietician helped with liquid feedings, since Shira still was not able to feed by herself; the formula was passed via a tube that went down the esophagus and into the baby’s stomach.
With quiet and time to think, Rachel investigated the manifold aspects of SCID, its genetics, diagnosis, and treatment outcomes. And as her knowledge grew, her sense solidified that her child did not have it. She clung to the idea that Shira had a nutritional deficiency, but was at a loss to say what nutrient might be missing. The right choice, Rachel realized, would be known only in retrospect.
Shira gained weight from the tube feedings. Her aims and legs filled out. Over the course of a week, her low-grade fevers abated, and some of the antibiotics were stopped. Rachel observed Shira’s every move. There was an alertness to her eyes and Rachel sensed a deep hunger to encounter the world. So, to satisfy this imagined need, Rachel sang and talked to Shira about the wonders of God’s creation, the sun and moon and stars, the earth with its forests and seas.
Not long after Labor Day, the bone marrow transplant team convened to discuss Shira’s case. Three donors were found in National Marrow Donor Program Registry, and each was willing to give marrow stem cells for Shira’s transplant. The blood of Shira’s birth mother in Vietnam, when tested, proved less comparable than that of the unrelated registry donors. Graft-versus-host disease would likely occur even when using the registry donors, the doctors said.
When the resident from the transplant team came on his morning rounds, Rachel decided she had to meet her doubts head-on. I want Shira’s immune testing to be repeated.”
The resident looked at her uncertainly. The medical team had come to appreciate the intelligence of Rachel’s questions and the efforts she made to research topics. But what more could be learned from repeating the tests?
“Her T-cell numbers have increased,” Rachel continued, struggling to maintain a calm, even voice.
“That happens sometimes with SCID, particularly after recovering from a major infection,” the resident replied. “It’s just expected fluctuation.”
”But I don’t think she has SCID,” Rachel said, her voice rising. “I think . . . I think she has some nutritional deficiency.”
The resident looked tiredly at Rachel. He had heard her idea countless times before. Rachel felt her pulse quicken.
“We know you think that, and of course we respect a parent’s feelings. But Shira has a variant form of SCID. It’s not a typical picture, as you know, but we’ve discussed it on rounds many times, with all the senior attendings.”
Rachel paused and exhaled slowly, “I want … her blood…. retested.” She hammered each phrase as if it were a stubborn nail.
Pediatricians are acutely aware of the anguish that mothers and fathers experience when their children are gravely ill. The doctors are trained to respond compassionately even to what they view as misconceived demands born of desperation. In this instance, the resident took pains to explain to Rachel that Shira had already been tested and that retesting would require a laboratory researcher to needlessly put aside other work.
“If Shira is an atypical case,” Rachel said, her tone softening, “then an ambitious scientist might be able to publish a paper on her. He could look more closely at her cells, get more data on why they don’t function.”
The resident considered this and agreed that an immunologist he was friendly with would be sufficiently intrigued by Shira’s case to study her cells. Yes, two sets of data would strengthen a manuscript submitted for publication in a prestigious journal. Rachel stopped her hands from trembling as she watched the resident draw the blood.
Shortly after dawn on the morning of September II, 2001, the doctor from the transplant team knocked loudly on the door to Shira’s room. Rachel quickly fixed her hair and tied the belt on her robe.
“I can’t believe it!” the resident exclaimed. “I just can’t believe it.”
He handed Rachel a printout of the second set of blood done on Shira’s immune system. One by one he went down column with her:
Total T cells: normal
Helper T cells: normal
Suppressor T cells: normal
B cells: normal
“Not only are there normal numbers of all her cells,” he continued, “but they’re all working perfectly.”
When Shira’s T cells were exposed to microbes in a test they immediately recognized them and went through the elegant choreography of their biological responses, coordinating scores of enzymes and releasing a repertoire of proteins that, in the body, amounts to a solid wall of immune defense.
“Shira doesn’t have anything like SCID,” the young doctor said, his face brightening. “She’s normal, healthy, fine. I think she should be able to go home by the end of the week.”
Rachel closed her eyes. Her heart beat with such force that she felt it would burst through her chest.
God, You answered my prayer.
Shira received her morning feeding through the tube, and then Rachel went to the end of the hospital corridor to a pay phone. She called one of het closest friends from her congregation and told her the news.
“It’s so wonderful,” her friend exclaimed. But then there was a long silence. ” Rachel wondered what was wrong.
“Turn on your TV.”
Rachel stood frozen in the room and felt as if her heart, so full of joy, were being torn. At the moment she celebrated Shira’s restored life, thousands were likely dead in the attack on the World Trade Center. How can I rejoice when God’s creatures are dying?
Forty-five days after Rachel and Shira went to the Children’s Hospital ER, mother and daughter left for home. It was Friday, just hours before the onset of the Sabbath. When Rachel turned the key and entered her apartment in Brookline, she could smell the meal left by friends. Two candles stood ready to be lit, two fresh challahs ready to be savored. Rachel held Shira after lighting the candles. The soft glow of the flames played off her daughter’s face. It was the day of rest and of peace, the day when all woes were meant to cease, the day that Rachel had not truly had for more than six weeks.
At each step, Rachel had not been sure whether she would find the strength she needed to endure, and the courage to question. Silently, she again thanked God for creating all human beings with such remarkable reservoirs of resilience. She thought how the Sabbath was the time when these reservoirs were refilled. She prayed that during this first Sabbath after 9/11 her country would find the strength and courage to defend itself and to care, with a full heart, for the families who had lost loved ones.
Rachel’s reverie was broken by Shira fussing in per arms. It was time for her feeding, time to replenish what ever nutrients must have been missing in the food in the orphanage in Vietnam that caused her immune deficiency. “Enjoy, sweet thing. Enjoy,” Rachel said as the formula flowed in.
In May 2002 in Boston, Shira’s case was presented at a clinical conference at Children’s Hospital. Its purpose was to educate the staff about a diagnosis that had not been seriously considered, and if not made, could have led to a disastrous bone marrow transplant. The young doctor leading the conference, and the ICU and bone marrow transplant teams, of course knew the outcome of Shira’s case. But the larger audience did not. So her story was presented from the start, as if each doctor listening had been at the bedside and required to make decisions from the first harrowing moments in the ER.
“What is your differential diagnosis?” the young doctor asked the audience. “List the possible causes for this set of signs and symptoms in our patient.” The consensus was SCID.
Then, in a dramatic flourish, a slide was projected on a large screen:
PATIENT DID NOT HAVE SCID.
The doctor presenting the case switched to the next slide, which detailed how malnutrition is a leading cause of immune deficiency worldwide. The most common form of malnutrition and immune deficiency in poor countries is due to the lack of adequate protein, as in severe starvation. This did not seem to be the cause in Shira’s case, since her muscles were well formed. But during the intervening months since her discharge, the team of doctors had found scientific articles that reported on how the deficiency of even a single vitamin could impair immune function. Other articles reported on deficiencies of metals like zinc, iron, and magnesium in children that resulted in decreases in T-cell numbers and T-cell function. These were all very rare but well documented instances. Still, no one could say for sure what accounted for Shira’s immune deficiency.
In the stylized speech of the clinical world, the presenter brought the audience up to date: “Patient discussed has been followed since discharge, and her immune function remains normal. The patient is growing well and meeting milestones.”
The kind of conference where Shira Stein’s case was discussed occurs at every teaching hospital in the country. And in community hospitals that do not have medical students or interns, there are similar forums where intriguing and unusual clinical problems are discussed among the senior staff. These conferences, whether at the academic centers or community institutions, are of great value in educating even the most experienced doctors about arcane and important disorders. But what is generally lacking at the conferences is an in-depth examination of why the diagnosis was missed- specifically, what cognitive errors occurred and how they could have been remedied. There is rarely an explicit dissection of which heuristics were used and where they fell apart.
Understanding the medical context in which Shira Stein was treated is essential to identifying the cognitive biases that almost had her undergo a debilitating, perhaps fatal bone marrow transplant. As Rachel Stein repeatedly told me, and as I well know (because Children’s Hospital, by way of full disclosure, saved the life of my oldest child), the institution is among the very best in the world in pediatric care. The physicians there have considerable expertise in SCID and other genetic abnormalities that cause severe immunodeficiency. Laboratories at the hospital study how deranged genes paralyze T cells and other key components of immune defense. Clinicians have refined treatment protocols to administer standard and experimental medications and to maximize success in restoring the body’s immunity. Since many cases of
SCID are routinely diagnosed and treated at the institution, not only the senior attendings but the interns ‘and residents as well are thoroughly familiar with the disorder.
Because of this expertise and familiarity, a “prototype” SCID child is established in the minds of the staff. And there is a natural cognitive tendency to zero in on certain characteristics of a patient like Shira and match them to the prototype. Familiarity breeds conclusions and sometimes a certain degree of contempt for alternatives. A maxim that I repeatedly heard during my training was “If it looks like a duck, walks like a duck, and quacks like a duck, then guess what? It’s a duck.” But it isn’t always a duck.
Physicians should caution themselves to be not so ready to match a patient’s symptoms and clinical findings against their mental templates or clinical prototypes. This is not easy. In medical school, and later during residency training, the emphasis on learning the typical picture of a certain disorder, whether it is a peptic ulcer or a migraine or a kidney stone. Seemingly unusual or atypical presentations often get short shrift. “Common things are common” is another cliché that was drilled into me during my training. Another echoing maxim on rounds: “When you hear hoofbeats, think about horses, not zebras.”
Rachel Stein, trawling through the long list of causes of Pneumocystis pneumonia, found a zebra. A nutritional deficiency can cause impaired immune defense and provide fertile ground this infection. With his characteristic élan, Pat Croskerry, at Dalhousie University in Halifax, has coined the phrase “zebra retreat” to describe a doctor’s shying away from a rare diagnosis. Powerful forces in modern medicine discourage hunting for them. Often the laboratory tests and procedures needed to pin down an arcane diagnosis are hard to perform, highly specialized, and expensive. In an era of cost containment, when insurers and managed care plans scrutinize how much physicians spend on anyone patient, doctors have a strong disincentive to pursue ideas that are “out there.” In fact, some physicians are called to account for ordering too many tests because they may turn up only one correct diagnosis out of twenty-five, fifty, a hundred, or five hundred, and because the money would be better spent on something else. Unless, of course, that one zebra case turned out to be the bean counter’s own child.
To add to that pressure, doctors who hunt zebras are often ridiculed by their peers for being obsessed with the esoteric while ignoring the mainstream. Zebra hunters are said to be showoffs. As an intern on rounds, I often heard senior residents call them “flamers.”
There is yet another psychological reason for a physician’s “zebra retreat.” Because a doctor usually lacks personal experience with the very arcane case, knowing about it only from his reading a single encounter over years of work, he often lacks the courage of his convictions. He is uncertain of how far to press the hunt.
Participants in the conference on Shira Stein’s case at Children’s
Hospital listed many nutritional inadequacies that result in immune deficiency. I would wager that very few on the staff would know how to identify them. I admit that I don’t; I would have to find a specialist or look up the answers, which are not readily available in medical textbooks. Furthermore, aside from relatively common dietary deficiencies -lack of vitamin B12 causing pernicious anemia, or insufficient vitamin C giving rise to scurvy – little is known about the effects of nutrition on many bodily functions. This absence of general clinical knowledge prompted physicians to dismiss Rachel Stein’s repeated suggestions that her daughter might be lacking some nutrient. Why pursue such a far-out and vague idea? Shira didn’t fit the, prototype of the malnourished child.
In addition to forming mental prototypes and retreating from zebras, Shira’s doctors made a third cognitive mistake, called “diagnosis momentum.” Once a particular diagnosis becomes fixed in a physician’s mind, despite incomplete evidence – or, in Shira’s case, discrepancies in evidence, like the rising T-ceIl numbers and the rarity of SCID among girls – the first doctor passes on his diagnosis to his peers or subordinates. This, of course, plagued Anne Dodge for fifteen years. Here, the ICU attending became convinced that Shira had SCID. This powerful belief was passed on to his interns and residents and then to the bone marrow transplant team when Shira was moved out of the ICU. Every morning on rounds when Shira’s case was reviewed, the opening statement was “Shira Stein, a Vietnamese infant girl with an immune deficiency disorder consistent with SCID . . . ” Diagnosis momentum, like a boulder rolling down a mountain, gains enough force to crush anything in its way.
Rachel Stein was not an expert in cognitive psychology and did not study errors in medical decision-making. She was a desperate and frightened mother. But she found the strength to educate herself about her child’s plight. And when she found inconsistencies in the many doctors’ reasoning, she politely but persistently refused to be deterred. She diverted the boulder.
I have made the same cognitive errors that Shira’s doctors did, despite all my training and all my good intentions. When all the pieces of the clinical puzzle did not fit tightly together, I moved some of those that didn’t to the side. I made faulty assumptions, seeking to make an undefined condition conform to a well- defined prototype, in order to offer a familiar treatment.
One year after Rachel got word from the adoption agency that an infant awaited her in Vietnam, I took my daughter Emily, then twelve years old, to visit Rachel and Shira. They live on a shaded street in an apartment on a lower floor of an old stone building. I had seen them in synagogue a few times, and commented on how healthy and robust Shira looked. But Rachel and I had not discussed her story in depth. I told Rachel that I was trying to understand how she had been able to think clearly and challenge the many doctors’ logic.
She shook her head as she listened. Then she explained how she saw the world: “God is like a best friend for me.” A best friend. A friend you can always call upon. A friend who never deserts you. Afriend who offers wisdom and resources without question. A friend you can bounce ideas off of with complete trust in his integrity. A friend you can reveal feelings to without fear that he might exploit your vulnerability.
This was the friend who steadied her time and again through tempest of Shira’s illness. This was the friend who held her back from breaking. This was the friend who helped Rachel think clearly, assimilate information, ask questions when she spoke with her sister in Los Angeles and with the many doctors and nurses caring for Shira. Drawing strength and inspiration from this friend, Rachel used all of her intellectual, social, and spiritual resources to press the request that ultimately led to the correct diagnosis.
Typically, my patients look to their faith for solace during a trying time. Some pray for God’s intervention, believing as many do that there are moments when His grace enters human lives in a direct and personal way. They Pray for a miracle, for God to steer events away from debility or death. Others simply ask for the strength to endure. After hearing Rachel’s story, I saw a third way in which faith can function.
Those who read the Bible, cynics say, are merely reading fairy tales. But astute psychologists counter that whatever the reader believes about the literal truth of Scripture, the Bible offers profound insights into human charterer. No one in its stories, despite his knowledge and power, and despite his good intentions, is perfect, infallible. Everyone is flawed at some time, in thought or in deed, from Abraham to Moses to the Apostles.
In their Handbook of Religion and Health, Koenig, Larson, and McCullough review the arguments, pro and con, about how faith influences the ill. One school of thought holds that religion makes people passive, accepting the course of events as God’s will. Such patients, these critics assert, relegate their personal responsibility for choices and action to an imagined force outside themselves, thus further infantilizing their part in an already overly paternalistic relationship with their physicians. This view is a corollary of Karl Marx’s famous assertion that religion “is the opium of the people,” a pacifier of both the individual and the society. For Rachel it was quite the opposite: faith can make a person a productive partner in the uncertain world of medicine. Faith, a well-recognized source of solace; of strength to endure, can also give people the courage to recognize uncertainty, acknowledge not only their own fallibility but also their physicians’, and thereby contribute to the search for solutions.
Of course, individuals for whom faith is not a cornerstone can find the resilience to endure and sustain the presence of mind to search for information and parse the logic of their doctors. They often employ strategies that mirror those of religious people. Instead of “praying on” a problem, they shift their mind to quietly contemplate the complexities of an issue. While Rachel Stein looked to God as her best friend, a trusted ally, agnostics and atheists recruit family or colleagues into this role. All of us – people of faith or not – can emulate Rachel Stein when we enter our doctor’s mind seeking gaps in his analysis, and pressing for answers that might fill those gaps.
1) This is a bit of a cautionary tale, but it could also be an example of the exception that proves the rule (common things actually are common). How can we teach students the wisdom and judiciousness to know when to question conventional thought?
2)What is the importance and effect of reading about medical cases from the (well almost) patient’s perspective? How do you think your impression of this case would have been different had you heard it in that presentation room instead? What is the value to this? What are the drawbacks?