When an inconceivable event takes place, sometimes it’s hard to know if the event itself is miraculous or if the timing of the event is the true miracle. Did the Red Sea miraculously split or were the ancient Hebrews miraculously at its shore precisely when a naturally occurring phenomenon began?
The essays in this chapter describe extraordinary medical outcomes that could only have occurred exactly when and where they did.
Date of event: 1988
Father Karl’s Miraculous Timing
Dale S. Adler, MD
It was a Saturday afternoon at an urban academic medical center. I’m a cardiologist, and was on call for the coronary care unit (CCU, the intensive care unit for heart patients) and the cardiac catheterization laboratory (commonly known as the “cath lab”) where we do dye studies to evaluate the blood vessels of the heart. As beautiful a day as it was outside, I knew I was not likely to enjoy much of the blue sky and sunshine. I had just finished an emergent case in the cath lab and I was happy for the nurses and technician there, who were hurriedly putting away equipment and making their computer entries. They might still be able to enjoy the waning hours of sunlight with their families. I let them know that all seemed quiet and they should try to get out of the hospital.
I was waiting for an elevator on the second floor that housed both the cath lab and the CCU, on my way upstairs to see a hospitalized patient. I intended to return to the CCU later to finish rounding on the patients I had admitted there earlier that day.
The elevator doors opened and, to my utter astonishment and great dismay, a body rolled forward over the threshold. Gray hair, overweight, black suit. Entirely unconscious based on the roll. I turned the man over, face up. Others who were also waiting for the elevator helped me. Priest’s collar,
pulseless, sweaty, clammy—drenched, in fact—cold, pale. We started CPR (cardiopulmonary resuscitation), and someone notified the hospital operator to broadcast a call mobilizing the emergency response team, but we didn’t wait for them to arrive. We dragged the lifeless body, while still doing CPR, toward the cath lab. More help arrived, with a gurney and defibrillator machine—the paddles for shocking the heart back to life that you see on all those hospital TV shows. Quick check of his heart rhythm: fine ventricular fibrillation, the most ominous heart pattern—his heart was doing virtually nothing. Shocked him with the paddles. No help. Quick lift onto the gurney, and we rolled him into the cath lab.
Fortunately, the cath lab nurses and technician had heard the call for the emergency response team and had not left the hospital. They were at the ready. Like a well-trained orchestra, everyone did their job. We learned that our patient was Father Karl, a popular seventy-year-old priest whose church and followers were about a thirty-minute drive from the hospital. Father Karl had been dutifully visiting his hospitalized parishioners, offering prayers of healing. We knew none of his medical history. We had no idea how long he had been pitched up against the elevator door. We didn’t know on which floor he had entered the elevator, nor why it stopped on our cardiac floor. We only knew he was cold and clammy and pulseless when he rolled forward from the elevator. His pupils were fixed and dilated, a very bad sign of impending death and/or brain damage. This was in an era long before we knew about cooling to protect the brain.
With ongoing CPR, we performed a catheterization procedure to find the cause of his cardiac arrest in hopes of reversing it. The procedure involves inserting a catheter (tube) into a large vein that runs directly to the heart. Dye is then injected into the arteries of the heart to find the problem. The large main artery on the front of the heart was occluded by a clot. That was the cause of his heart attack—that main artery is colloquially known as the “widow maker” because when it’s blocked, there’s big trouble.
While visualizing the catheterization procedure on the video monitor, I was able to reach his blocked artery with the catheter and slide a wire, and then a balloon, across the soft clot. I dilated the balloon to open up the artery, and then deflated it. Blood flow in the vessel was restored. This was at a time before stent devices, which these days are left in the opened arteries to keep them open, but the flow through his artery continued to look strong after the balloon procedure. He was still without a heartbeat. Another shock with the paddles, now to a heart getting adequate blood flow, was followed by return of a more normal heart rhythm, and then a weak but definite pulse. We boosted his blood pressure with another type of device, this one inserted into his aorta (the main artery leaving the heart), and with multiple medications.
I was told that people were in the waiting area, wanting to know about Father Karl’s condition. I arrived there, my scrubs soaked with Father Karl’s blood and sweat. Some of my own sweat, I presume, as well. I was greeted by a sea of black and white, a roomful of priests and nuns, every seat taken. They had heard about their beloved Father Karl and had come to see him and to pray. They all stood up as I arrived.
I told them that the good news was that Father Karl was alive, at the moment, and in our CCU with a heartbeat and a blood pressure. The blood pressure, of course, was being helped by many medications and the intra-aortic device. The bad news was we had no idea whether Father Karl’s brain had survived this dramatic insult. We didn’t know if he had been out for sixty seconds or five minutes before the elevator doors opened and we started CPR. The loyal legion said that they would pray for Father Karl and for the physicians. One after another expressed profound gratitude for what we had already done.
A mere four weeks later, after a full recovery, Father Karl addressed his congregation. He expressed gratitude to God and, graciously, to his physicians.
I, too, was very grateful. Grateful that a kind and revered man who had just been bringing good wishes and prayers to patients had the good fortune of having his potentially fatal heart attack in a hospital. More precisely, in a hospital elevator, which opened to the hospital floor where I was standing waiting for that elevator. The same hospital floor where the cardiac cath lab and CCU were located, and where I and others, trained and experienced in just this type of cardiac emergency, were still at work on a weekend day. Grateful that after literally falling at my feet, as if delivered to me, his heart finally responded to our treatment. Treatment that would have been impossible to receive in such a timely fashion had he collapsed almost anywhere else that day. Grateful that the prayers he said for our patients earlier that day were repaid many times over by the prayers of his community who had gathered in our waiting room that afternoon, and subsequently in his church during the harrowing days that followed.
As the saying goes, timing is everything. I will always be grateful for Father Karl’s timing.
Date of event: February 2013
An Unlikely Discovery by the Unlikeliest Person
Ryan Jones, MD
Claudette Dalton, MD
Gilbert Upchurch Jr., MD
Editor’s note: This remarkable story is separately told by three different caregivers, each from their unique vantage points. The roles of the medical student (Dr. Jones), teacher (Dr. Dalton), and surgeon (Dr. Upchurch) were each essential—without any one of them, the miracle would never have happened.
Part 1. The student
In all honesty, I was just trying to pass my exam. Once a week or so for the first two years of medical school, my fellow students and I donned our short white coats and had contact with patients as part of our Clinical Performance Development course. The contact ranged from watching trained physicians interview and examine patients, to doing the same ourselves under the supervision of our physician teachers. On the day that led to this essay, I was at the end of my third year of medical school, feeling fairly relaxed because the “worst” of my difficult rotations were behind me. I was generally comfortable with my skills in obtaining a medical history from a patient and performing a physical examination, and the exercise that day was designed to test those skills in preparation for the national licensing examination I would take in the near future.
The exercise consisted of a series of volunteer pretend “patients,” each with a different faux condition, from whom we students were expected to extract the relevant information to lead us to the diagnosis the actors were pretending to have. It was a little like a game—these pretend patients revealed only the information we students elicited by careful questioning. After the questioning, we went through the motions of a physical examination directed at where we thought the problem might be, based on our interview with the patient, and then we summarized our treatment plan to both the patient and a physician proctor for the exam. Once we finished the case, we moved on to the next.
When I walked into Jim’s room, I had just finished a previous case where I thought I could have done better. I belatedly realized questions I should have asked and was kicking myself for the mistakes. Nonetheless, I told myself to let it go and focus on the next patient, Jim, a seventy-five-year-old retired engineer. Fortunately, Jim’s story was fairly straightforward. He conveyed risk factors in his history for an abdominal aortic aneurysm (an abnormal and potentially dangerous bulge in the aorta, the main artery in the body that courses from the heart through the chest and abdomen), and he reported symptoms that could be explained by a large abdominal mass or aneurysm. When it came time for the physical examination, I knew the abdomen would be my primary focus.
The physical exam of the abdomen is an important part of a physician’s education, of course, but I was just focusing on making sure I got all the steps right so the preceptor observing me on closed circuit TV from another room would see I knew what I was doing. In this case, I was going through the motions of looking for an abdominal mass or an abdominal aortic aneurysm. The latter, in particular, can be detected by feeling a pulsating (“beating”) mass in the abdomen or by hearing a bruit, a sound from turbulent blood flow, with a stethoscope. With Jim, I wasn’t expecting to find anything, of course—he was a pretend patient! I vividly recall the Whoa! moment when I thought I felt a pulsating mass in Jim’s abdomen, right where the aorta should be. I took a step back from the exam table and collected my thoughts. Then, listening to his abdomen, I thought I heard a bruit, adding weight to my diagnosis of an abdominal aortic aneurysm. A real one!
It seemed odd to me that Jim would be volunteering for this case. I thought he must be a “ringer,” a patient with an actual disease thrown into the test setting to see if the students would detect a real condition—in this case, a very serious one. Rumor had it that sometimes national examiners do that for the licensing tests, but this was just a clinical skills course as part of medical school—highly unlikely to have a patient with a real disease volunteering to play the part for the students in this setting. I was so taken aback by what I felt and heard that I “broke character” for a moment and addressed Jim as a potential real patient rather than a pretend patient. After all, he was reporting to have symptoms—I needed to be sure that what he was saying wasn’t true, because the symptoms he was describing would have raised concern for leakage from the aneurysm or impending rupture, a highly fatal complication.
“Do you know you might have an abdominal aortic aneurysm?”
But Jim stayed in character. “What’s an aneurysm?” he asked, even though his job that day was to portray a patient with an abdominal aortic aneurysm and he had been fully prepped in the condition he was “pretending” to have. Later, I learned that all the symptoms Jim had complained about to me were, indeed, pretend, just part of the test. In fact, he never had any symptoms. It turns out that many patients with real abdominal aortic aneurysms don’t have symptoms, sometimes until it’s too late.
I reported my findings to my preceptor, Dr. Dalton, as part of my responsibility to present the case as a doctor would when discussing a real patient. Dr. Dalton seemed skeptical of my findings of an abdominal aortic aneurysm in a patient who thought he was pretending to have one. I wondered to myself whether it was even safe for a patient with a real aneurysm to have his belly poked and prodded by student after student, but I assumed everyone knew what they were doing, including Jim, and that my concerns were above my pay grade. Keeping in line with the test protocol, I moved on to my next pretend patient of the day. Each of the students saw eight such volunteers in the same day as part of this testing.
When Jim’s aneurysm was subsequently confirmed by his physicians and the surgical correction performed, there was quite a media storm1-4: “UVA Medical Student Diagnoses Actor with Life-Threatening Condition During Practice Exam.” “Med Student Discovers Real Disease in Fake Patient.” “U-VA Med Student Saves Man’s Life During Training Exam.” “Med Student Saves Life of Elderly Man Acting as Pretend Patient.” I received congratulatory emails from the president of the university, the dean of the medical school, and the CEO of the hospital.
All the fuss took me by surprise, but I enjoyed getting to share the story with so many people. Really, I was just trying to pass my exam. Most meaningful to me, Jim and his wife were extraordinarily grateful, telling everyone I had saved his life. But, as I told the media, Jim and I were both just fortunate to be in the right place at the right time.
1 http://www.cbsnews.com/news/uva-medical-student-diagnoses-actor-with-life-threatening-condition-during-practice-exam/
2 http://abcnews.go.com/Health/med-student-discovers-real-disease-fake-patient/story?id=21475027
3 http://www.washingtonpost.com/blogs/answer-sheet/wp/2014/01/13/u-va-medical-student-saves-mans-life-during-training-exam/
4 http://insider.foxnews.com/2014/01/07/uva-med-student-saves-life-elderly-man-who-was-serving-patient-actor
Part 2. The teacher
I have the privilege of supervising medical students who are early in their training and learning to interview and examine patients for the first time. One of our most effective teaching strategies is with “standardized patients” —local residents who portray a patient scenario for medical students to practice their skills—for little or no pay. These “pretend patients” are prepped on how to give consistent histories and behaviors to all the students who examine them. That is no mean feat when you are allowing dozens of students to question, pummel, and fumble through a history and physical exam.
Jim is a retired executive who has volunteered his time for many years to portray patients with various conditions. Jim’s wife also is a standardized patient, and the two of them have a sweet, caring relationship that is a joy to witness. They really enjoy contributing together to medical education in this unique way.
On the day in question, Jim was acting as a patient with a possible leaking abdominal aortic aneurysm. (As an aside, his wife was portraying a depressed patient for the students that day.) The aorta is the main artery in the abdomen, and it sometimes develops a defect that causes it to balloon; this balloon is called an aneurysm. As the ballooning aorta grows bigger, it can leak and even rupture—two very serious and potentially lethal complications. The objective for the students examining Jim was to get a history of underlying risk factors for aneurysms, such as high blood pressure, smoking, and disease in other blood vessels, as well as to obtain a history of belly pain. Then the students were expected to do the proper abdominal exam, focusing on findings that might indicate the presence of an aneurysm, such as a mass that was pulsating, a widened aorta, or an abnormal sound of turbulent blood flow called a “bruit.”
No one expected there to be real physical findings—after all, the stand-ardized patients portray all sorts of diseases that they don’t have and for which they should have no real signs on physical examination. The exercise was to ensure the students asked the right questions in the right way, and went through the motions of the exam correctly. My role was to watch the exam in real time on a closed-circuit TV in another room, and then listen while the student “presented” the patient to me—a test of his or her ability to organize the information and give it back reliably.
Ryan Jones was the last student of the day. I had observed and listened to seven others that day and twenty-four others in the three afternoons that week prior to this session. Hence, Ryan was the thirty-second medical student to examine Jim’s belly. Ryan did a nice job on both his history and physical examination and his presentation was also well done. But, when he told me that he had felt a pulsating mass and heard a bruit over the abdominal aorta, I admit to being a little peeved. He’s making that up or imagining it, I thought. I challenged him, and asked if he was saying that to represent what he would have heard in a real patient. “No,” he insisted, “I really felt a mass and heard a bruit!”
Something about Ryan’s quiet assurance got me out of the chair from my viewing booth and down the hall to Jim’s room. He was already dressed and ready to leave but readily agreed to let me examine his abdomen. And there they were—an unmistakable mass and bruit. Geez! I couldn’t believe I almost dismissed Ryan’s findings as imaginary.
By this time, Jim was looking a bit confused. I told him that Ryan had felt and heard something unusual and that I had confirmed it. My advice was to go to see his primary care doctor sooner rather than later and get an abdominal ultrasound. Jim didn’t seem entirely convinced—he felt fine, looked fine, and had taken good care of himself. But he did say I could talk to his wife who was finishing up her “performance” in another examination room. That sweet woman looked her husband in the eyes and started issuing orders—he would be going to see his physician. Clearly, this soft-spoken, rosy-cheeked, seventy-plus tiny lady was in charge of the situation. Impressive, especially considering she must have been emotionally and physically exhausted after play-acting as a depressed patient for thirty-two medical students that week alone! I knew she would make her husband do the right thing.
Indeed, Jim’s wife marched him straight to his doctor, the aneurysm was confirmed and the surgery was done by Dr. Upchurch. Without Ryan’s good exam, his mention of something no one else had heard or felt, and his quiet but confident insistence that it was real, who knows when or if Jim’s aneurysm would have been discovered in time?
Part 3: The surgeon
I see hundreds of patients a year for surgery on diseased blood vessels, referred from fellow surgeons and other physicians all over Virginia and around the country. But, in my more than twenty years performing vascular surgery, seeing and operating on thousands of patients, I have never received a patient referral like this one, and I doubt I ever will again.
Jim came to me after a medical student named Ryan Jones felt a pulsating mass and heard a “bruit,” which is the sound of abnormal turbulent blood flow, in Jim’s abdomen. Jones’s examination took place as part of our university medical school’s “standardized patient” program, wherein volunteers pretend to have a certain condition to help teach our medical students. Jim was supposed to be just an actor, pretending to have an aneurysm so the students could practice their skills. Ryan Jones must have been imagining the findings, right? None of the other students who examined Jim that day felt or heard anything abnormal. Perhaps it was the power of suggestion—Jones knew what he was looking for so he imagined he found it?
No, this was a real aneurysm in a patient pretending to have one. The mass and the bruit sound were confirmed by Dr. Dalton, his proctor for the day, and the patient was referred to me after an ultrasound confirmed the finding. When I evaluated Jim, I observed a thin, fit, and elderly male, the “classic” appearance of patients with abdominal aortic aneurysms. He had no symptoms whatsoever and he was sure this was some kind of mistake. Both he and his wife were nervous about the diagnosis and the treatment that would be required. Indeed, I confirmed the medical student’s physical examination findings and the diagnosis of an abdominal aortic aneurysm was confirmed by CAT scan (a special type of X-ray).
Surgery has come a long way for this problem in recent years. In the past, we opened up the abdomen with a large incision and performed a lengthy and risky resection (removal) of the aneurysm and replacement with a tube (graft) made of artificial material. Now, in most patients, we are able to fix the ballooning vessel by snaking what we call an “endograft” into the aorta through a small incision in the patient’s groin. The endograft is like the inner tube of a tire—we inflate it within the diseased portion of the aorta and it stabilizes the blood vessel, preventing it from leaking or bursting. I performed this procedure on Jim and he was able to go home the next day without any complications. He was stunned by how this all happened, but he and his wife were very grateful to the medical student, the student’s teacher, and me for preventing what could have been a disastrous outcome had the aneurysm not been detected early.
At the time of surgery, Jim had a six centimeter (approximately 2.5 inches) size aneurysm. Aneurysms can grow rapidly. Studies have shown that aneurysms of six centimeters in males have an 8 to 10 percent chance of rupturing each year. The death rate from a ruptured aneurysm is greater than 50 percent. However, if we can fix the aneurysm before it ruptures, as we were able to do with Jim, the death rate is reduced dramatically to only 1 to 5 percent.
Even more remarkably, studies have been done testing skilled physicians’ abilities to detect aneurysms in patients who are known to have aneurysms present. Even in the best of hands, physical examination can only detect an aneurysm 50 percent of the time. That’s because physical findings of aneurysms and many other conditions can often be subtle, transitory, or absent entirely. The physical examination is as often the “art of medicine” as it is the “science of medicine.” Ryan Jones was by no means a skilled examiner—he was still a medical student, early in his training. But he was a medical student with astute observation skills and the confidence to pursue what he believed he discovered, no matter how unlikely it may have been. He may well have saved Jim’s life.
It was Jim’s good fate to have fallen into this medical student’s hands on that particular day. We are blessed to be in this profession.
Date of event: 2012
Three Teens and a Miraculous Machine
Mary Catherine Finn Ring, RN, MSN, PNP-C
Bruce Ring, MD
After the devastating 2010 earthquake in Haiti, medical teams from around the world mobilized to provide urgent aid. In the years since, recovery has been glacially slow and medical teams have continued on missions to the battered country. We have been privileged to be among those who have made repeated visits. Our work has been focused in a rural mountain village one hour from Port-au-Prince where a tiny clinic stands, overwhelmed by the needs of the impoverished residents. The village had no running water until 2012. Medical supplies are limited to what we can fly in from the States, which we gather by soliciting donations of medicines and equipment prior to each trip. Typically, each mission is staffed by two medical personnel and several non-medical folks, sometimes including teenagers volunteering through their school.
There is no computer access in this village, and in fact, electricity is only intermittent, as is true almost everywhere in Haiti. As only the most basic lab tests can be performed, such as a simple blood count and a few others, care is delivered mostly based on the practitioners’ diagnostic skills.
An electrocardiograph (EKG) machine for testing heart function was desperately needed in that clinic.
Teen #1—The Robotics Techie
On this particular trip, the team was excited to have procured a donated EKG machine to bring along with them for the clinic. The excitement was short-lived, however, when they arrived with the EKG machine in the clinic only to discover the machine was broken. One of the volunteers on that trip was a student named Daniel who was a member of the robotics club at his high school. Daniel suggested he and his fellow club members might be able to repair the machine, so arrangements were made to bring it back to the States with the team. Sure enough, these tech-savvy high schoolers, who had never before worked with an EKG machine or other medical equipment, got it up and running again in time for the next trip to Haiti.
Teen #2—The Basketball Star
On the next trip, the two medical team members were a cardiologist (heart specialist) and an internist (general internal medicine doctor). They brought the usual potpourri of donated supplies, along with the now refur-
bished EKG machine, courtesy of Daniel and the robotics club. Although Daniel was not on this trip, the cardiologist’s sixteen-year-old son Trevor was one of the volunteers. Tall, handsome, and athletic, Trevor was a star on his school’s basketball team. The cardiologist’s participation on the trip, as well as his son’s, was something of a fluke. At home, the cardiologist had gone to watch one of Trevor’s basketball games, but there was a mix-up in the schedule and Dad went to the wrong game. At that game, he ran into the aforementioned internist who had been on these Haiti trips in the past. The internist told the cardiologist about the missions, sparking the cardiologist’s interest and prompting him to make the next trip and bring his son. The internist’s teenage son would also be going on the trip.
Shortly after arrival, the physicians on the team were anxious to test the EKG machine to see if it still worked after the arduous trip to the remote clinic. It wasn’t as easy as they’d hoped, though, because although they had a machine now, they realized they didn’t have the lead wires necessary to attach the machine to a patient. They were about to give up on having a functioning EKG machine that trip, but thanks to the industrious and determined efforts of a nurse also on the volunteer team from the U.S., they were able to find the lead wires they needed.
The two teenage boys, Trevor and the son of the internist, were standing next to each other in the clinic when their physician fathers wanted to try out the machine for the first time. Neither boy was much interested in being the first “guinea pig” volunteer, but the cardiologist insisted it be his son so as not to impose on his colleague’s son. They clipped the standard twelve lead wires to electrodes placed on Trevor’s chest and turned on the machine. Indeed, it worked. But as soon as the strip of paper with the test results came out of the machine, a collective gasp filled the room—what they saw on the EKG test on this seemingly healthy young man was devastating. This strapping, athletic teen had a potentially lethal heart defect.
This was the very beginning of the trip, but his dad, the cardiologist, knew he had to get Trevor to a major medical facility. They carefully observed him until the first opportunity to return to the States, when he was admitted to a premier medical center. He was evaluated by the heart surgeon there, who told the family the boy needed urgent open-heart surgery to correct a life-threatening heart defect, probably present since birth but not detected until the serendipitous testing in this remote Haitian village with a patched-up EKG machine. The surgery was successful, and Trevor went on to become a nationally recognized high-school basketball player.
Teen #3—The Malnourished Orphan
A few weeks after Trevor’s lifesaving experience at the clinic, a fourteen-year-old girl named Betiane was brought to the same clinic by her aunt to see the current medical team, of which I was a part. As a pediatric specialist, I was the designated caregiver for most of the kids we saw during my volunteer trips to this clinic in Haiti. This young girl, in tattered clothes and appearing frightened, sat in my exam chair. She was extraordinarily thin and clearly malnourished.
Even more urgently, Betiane had such severe difficulty breathing she could not complete a sentence without gasping for air. I listened to her chest with my stethoscope and heard the loudest heart murmur I can ever remember hearing. A heart murmur is the sound blood makes when flowing through abnormal compartments or valves in the heart. I then knew she had heart disease, but did not know what type. Our EKG machine, the same machine that had been repaired by Daniel, our robotics club volunteer, and the same machine that saved the life of Trevor, our star basketball volunteer, con-
firmed our suspicions of severe heart disease as the cause of Betiane’s breathing distress. At this point, we suspected she had rheumatic heart disease, a dread complication of a childhood strep infection (usually strep throat). Rheu-
matic heart disease is rarely seen in the United States any longer because of timely use of antibiotics for strep infections, but in the developing world and impoverished communities, rheumatic heart disease remains a significant and life-threatening problem. Betiane needed surgery if she had any hope of surviving—and surgery was an impossibility in this setting.
As if that wasn’t enough, Betiane’s aunt announced that because of her own dire poverty, she could no longer care for the child. We learned that the girl’s mother had died, after which her aunt took over her care. The child’s father was never involved. The aunt had tried her best but was now giving up for the sake of the girl who needed more than the aunt could possibly provide. Betiane’s profound malnutrition was testimony to the aunt’s des-
perate situation. As the aunt walked away from her niece forever, I left the examining room in tears for what this child was going through, trying to pull myself together for what we next needed to do. Betiane would surely die of malnutrition if the profound breathing distress from her heart disease didn’t kill her first.
Struggling for breath, Betiane walked with us a mile to a nearby orphan-age where we begged them to take the girl into their already overcrowded and overwhelmed facility. The orphanage had no medicines, but agreed to provide the girl with food and shelter to the best of their ability. I left feeling overwhelmed with sadness, fearing I would never see her again. With all our good intentions, there was nothing more we could do for this poor child.
Postscript
But the story didn’t end there for our teens. Through his dad (the cardiologist who was now part of the medical teams serving the Haiti clinic), Trevor heard of Betiane’s grave situation. Having himself been saved by the clinic and its valiant, patched-up little EKG machine, he was tormented to think that it was only because of his good fortune, living in the United States and being able to afford the best medical care in the world, that he would survive and Betiane would not. So when it came time for his hospital discharge following open-heart surgery, Trevor’s surgeon came in to say good-bye and asked if there was anything else the boy needed before going home. Yes there was, he said. Trevor told the surgeon about Betiane and asked if he would be willing to operate on her if a way could be found to bring her to the States and to this premier medical facility. Would the surgeon give Betiane the gift of life as he had for the cardiologist’s son? The surgeon didn’t hesitate a moment—of course he would!
Turns out getting the surgeon to agree was the easy part. Betiane had no papers, no documentation of who she was or where she was from, and no way to leave the country. The bureaucratic hornet’s nest that was then unleashed rivaled any medical challenges we had faced in Haiti. Between the governments of Haiti and the United States, and even turf wars within the medical community in the U.S., one hurdle after another seemed to doom Betiane to never leaving Haiti for the lifesaving surgery awaiting her in the U.S.
Meanwhile, in the orphanage, Betiane’s nutrition improved somewhat and, as a result, she was in a little less breathing distress. On a subsequent visit to the same rural village in Haiti, an immigration attorney and a schoolteacher were now part of the volunteer group. They, along with the nurse practitioner clinic medical director, went to plead Betiane’s case at the U.S. Embassy in Port-au-Prince. Faced with more stonewalling, a call was finally placed to a newly elected U.S. senator from the state where the surgery would be done. With the senator’s help, and the tireless determination of these volunteer individuals over many months, Betiane was flown to the U.S. where she, too, had open-heart surgery by the same doctor who had cared for Trevor. The surgeon replaced a heart valve ravaged by her rheumatic heart disease and the procedure was a success. The heart failure that had caused her severe breathing problems was cured.
Following discharge from the hospital, Betiane continued her recovery for the next three months in the home of another one of our medical colleagues from the Haiti missions. She returned to the orphanage, where we visited her on each of our subsequent trips to Haiti. Betiane, now seventeen years old, is healthy, well-nourished and, to our eyes, has become the “Queen Bee” of her orphanage. She is very grateful for the life she has been given.
So, to sum up, a donated but broken EKG machine was repaired by a teenage volunteer on a medical mission to Haiti. That machine returned to Haiti and diagnosed severe congenital heart disease on another teen volunteer who was only there because his dad had gone to the wrong basketball game. This teen had no symptoms of a heart problem, but he may well have very soon thereafter become one of those tragic cases we read about—a young athlete who collapses on the playing field or basketball court and cannot be resuscitated. Instead, that young athlete survived thanks to major surgery and not only continued to excel in his sports career, but also paved the way for lifesaving surgery for another teen who otherwise had no chance of survival.
Three teens, who never met each other, saved each other’s lives with the help of a miraculous little machine in a remote Haitian clinic. Today, the machine continues in use daily and is still the only EKG machine we’ve ever had there.
Date of event: January 2013
An Impossible Delivery
Amanda Yeaton-Massey, MD
Kay Daniels, MD
When Karen walked into the emergency room she knew something was wrong. Since New Year’s Eve she had felt an uncomfortable growth and had experienced some light vaginal bleeding, a rare occurrence as she had not had a period in five years. Her first thought was that this was another episode of vaginal bleeding from her uterine fibroids to add to her long list of previous emergency room visits for the same problem. Uterine fibroids are benign tumors of the uterus that can cause heavy and prolonged menstrual bleeding, with sometimes serious consequences. With this episode, as with some of her previous ones, her bleeding had gotten so heavy she could no longer manage it at home. A tall, fit woman of forty, Karen had undergone numerous treatments for her condition, including surgical removal and a procedure known as uterine artery embolization intended to cut off the blood supply to the fibroids. She was unsure what to attribute this bleeding episode to as she had only rare spotting in the years following the procedure.
Karen and her husband had been told that the lifesaving procedures to decrease the bleeding from her fibroids had likely rendered her infertile. While they had wanted children, they had made the decision to save Karen’s life and had shifted the way they envisioned their family. Waiting patiently on her gurney for an ultrasound, she tried to quiet the nagging sense that something was different this time. She lay on her back in the dimly lit room with her exposed belly covered in the blob of blue gel used for the ultrasound test. A quiet fell over the room when the tech placed the probe over her abdomen to reveal not fibroids but a fetus. It moved. Its heart beat. It was a female and, as it turned out, had been growing inside Karen for almost seven months. As the ultrasound continued, the apparent cause of her bleeding was revealed: a placenta previa, an abnormally located placenta covering the opening to her cervix. She and her husband now took in the wonderful news that they would be parents and the terrifying news that the location of her placenta posed a threat to both Karen’s life and that of their growing child.
Karen was quickly transferred to a hospital equipped with a neonatal intensive care unit that could care for her baby and a high-risk obstetric team that could care for her. The ultrasound was repeated once she was admitted to the second hospital and confirmed her seven-month pregnancy and the abnormal location of the placenta. This ultrasound, however, also demonstrated an area of the placenta that appeared to be invading into the wall of the uterus, a very dangerous condition known as placenta accreta. While a placenta previa typically requires delivery by caesarean section near the completion of the pregnancy (as long as bleeding can be controlled prior to that), a placenta accreta typically requires immediate delivery by caesarean section followed by a hysterectomy (complete removal of the uterus). Thankfully, Karen’s bleeding stopped and she had a few days to absorb some of this life-changing information.
I was in my second year as a resident on the high-risk obstetrics service and had the pleasure of seeing Karen and her husband daily on rounds. I watched as they gracefully came to terms with the news of her pregnancy along with the potentially life-threatening complications. Karen was a vivacious woman who would have much preferred being on a hiking trail than in a hospital and she yearned to return to her home and friends. She walked the halls every day to get out of her room and develop some semblance of normalcy. I would visit with Karen and her husband on these walks and listen to stories of their community banding together to get their home ready for their baby. They shared with me that their little girl would be named after Karen’s late mother-in-law. The baby was becoming more real by the day and the team could tell these two would be incredible parents. We hoped, though, that we would all have a chance to wait a few weeks to meet their little girl, who needed more time to grow and develop inside her mother.
After two relatively quiet weeks in the hospital where she was carefully being monitored, Karen developed sudden, excruciating abdominal pain and contractions. She was rushed to the ultrasound suite for evaluation where, to the shock of everyone in the room, her fetus was noted to be freely floating outside of her uterus, in her abdomen, which was full of what was likely amniotic fluid. Her uterus had ruptured, expelling the baby, and now her baby was at imminent risk of separation from its uterine lifeline; the fetus and umbilical cord would likely tear away from the uterus at any moment. Without immediate delivery the infant could die from lack of oxygen, and Karen could die from massive bleeding.
Minutes after receiving this catastrophic news, the team was wheeling Karen from the ultrasound suite to the operating room. My heart pounded as I held her hand and tried to reassure her and her husband that we would do everything we could to save Karen and their infant. With anesthesia at the head, her nurse on the left and me on the right we were an unlikely sight as we raced the unwieldy gurney and IV pole down the hall. As our convoy entered the doors to the operating suite we were pointed down the hall to the room being prepared for her. There was a palpable sense of urgency as word of Karen’s extraordinary circumstances preceded her.
Karen was transferred to the operating table, as the staff got ready for an emergency surgery and the pediatrics team readied for the arrival of her premature baby. Every second counted, and the teams worked in concert to expedite this critical delivery. We worked against the sickening knowledge that such a large uterine rupture was unlikely to be survivable for her baby and, even if survivable, unlikelier still to result in a child who was neurologically intact. A baby’s brain function depends on sufficient oxygen being delivered through an intact and in-place umbilical cord connected to the placenta. As soon as the surgical drapes were placed to frame Karen’s abdomen, an incision was made from her pubic bone to beneath her breasts, revealing a free-floating infant with only its head remaining inside the uterus. The rest of the baby’s body protruded into the abdominal cavity through the massive tear in the uterus. The cord was clamped and cut and the baby girl was handed off to awaiting pediatricians, floppy but miraculously very much alive.
No one could believe it but the placenta accreta, which now posed an imminent threat to Karen’s life, had saved her baby with its tenacious grip on the uterus in spite of the rupture. The placenta had deeply invaded the wall of the uterus, tightly anchoring itself. Under just about any other circumstance with a uterine rupture of this size, the placenta would have ripped completely away from the uterus, leaving the fetus floating helplessly in the abdominal cavity, without blood supply or oxygen. Invasion of the placenta into the uterus is a dreaded obstetric complication, one typically seen with prior caesarean section scars. It is associated with massive blood loss and usually requires removal of the uterus with the placenta after delivery of the infant to save the mother’s life. In Karen’s case she had no caesarean scar on her uterus, only the procedures to remove her fibroids and decrease blood supply. The likelihood of her having a placenta accreta was low and in this case this dangerous abnormal placental growth was the only thing that saved her infant’s life. The baby was, as it turned out, saved by the very placental abnormality that initially announced her presence and put her mother’s life at risk. One life-threatening complication of pregnancy, the placenta accreta, rescued both mother and baby from another life-threatening complication of pregnancy, a ruptured uterus.
Incredibly, Karen underwent an uncomplicated hysterectomy to remove both her uterus and the invasive placenta. In spite of massive blood loss, she was moved from the intensive care unit to the regular postpartum floor the day after her surgery. Now, more than a year-and-a-half later, Karen is completely recovered from her ordeal and joyously watching her absolutely perfect baby girl thrive as she discovers the world around her.
Periodically Karen will send pictures of her miracle baby. They serve as moving reminders that sometimes everything conspires to make the impossible possible.
Date of event: EARLY 2000s
Exploding Blood Cells
Philip L. Glick, MD, MBA
A fourteen-year-old boy from a dairy farm in the rural part of the Northeast was admitted to our intensive care unit (ICU) with a serious condition called hemolytic uremic syndrome (HUS). This illness is usually caused by certain types of bacteria in food, but has also been linked to swimming in contaminated lake water, which was the suspected source in this child’s case. HUS begins with the gradual bursting of red blood cells, causing anemia. The debris from the burst cells can clog the kidneys and cause them to fail. Other organs of the body are less commonly affected. The prognosis for the typical case of HUS in a child is excellent. However this was, in no way, a typical case.
This boy developed kidney failure, the most common serious complication of the disease; however, he was quite stable for several days in the ICU. Our surgical service was consulted because of the possible need for dialysis should his kidney function deteriorate further. Dialysis involves hooking up a filtering machine to the patient’s blood vessels through a catheter tube and running the patient’s entire blood circulation through the machine to clear the toxins, returning “clean” blood back to the patient. Removing toxins is a normal function of the kidneys, but with kidney failure, toxins accumulate and, without dialysis, these can be very dangerous.
After another stable day, the child’s kidney function gradually deteriorated further and we made the decision to mobilize the surgical team and take him to the operating room at 12:30 am for placement of a dialysis catheter, rather than waiting until a more “normal” hour and risking further decline in his kidney function. He remained quite stable as we rolled him in, and we anticipated a very routine procedure. As we were obtaining consent for surgery from the parents, the boy’s heart monitor suddenly showed that he had developed a very abnormal heartbeat pattern, the type caused by excessive levels of potassium in the blood. There could be only one explanation for such high levels of potassium so suddenly: a massive explosion of the child’s red blood cells (which contain high levels of potassium). Whereas his HUS had caused a more gradual destruction of blood cells up until that point, the illness now had taken a potentially lethal turn with simultaneous bursting of millions of blood cells.
As a result of the destruction of so many red blood cells all at once, there weren’t enough left to sufficiently carry oxygen to the vital parts of the body, including the brain. This profound anemia forced the child’s heart to overwork trying to get too few cells to too many places in the body. Adding to the crisis was the excessive potassium from the burst cells. Potassium, in high levels, is extremely toxic to the heart. The child suddenly went into cardiac arrest on the operating room table, and we instantly began cardiopulmonary resuscitation (CPR). But we knew this child would very likely die unless we did something dramatic—immediately—to save his heart and brain.
There was only one “something” that might work: an invasive and potentially dangerous technique called extracorporeal membrane oxygenation, or ECMO. ECMO does for the heart and lungs what dialysis does for the kidneys. It siphons all the blood from the body into a machine that puts oxygen into the blood and removes carbon dioxide, as a normally functioning heart and the lungs do with each breath we take. This child’s failed heart was unable to get sufficient blood to his lungs, and ECMO was our only option.
While the team was still performing CPR, I ran out to find the parents and explain, as quickly and completely as I could, how our plans for a routine dialysis catheter insertion had changed to an emergent lifesaving and high-risk ECMO procedure. I cautioned the boy’s parents that ECMO itself can cause brain damage because of the removal and replacement of the child’s entire blood pool, the blood thinners required to keep the blood flowing smoothly through the machine, and the potential disruptions of blood flow to the brain that any step of the procedure can cause.
There are some miracles that seem to occur because circumstances are just right for a miracle, a perfect “alignment of the stars” that allows for an astonishing outcome. Heart failure as a complication of HUS is very rare and often fatal. Had this child’s massive explosion of red blood cells occurred at home, in an ambulance, in a small community hospital, or even in a different part of our tertiary care children’s hospital, he would likely have died. Instead, his life-threatening, instantaneous deterioration developed before our eyes, on the operating room table, as we were preparing him for a much more routine surgical procedure. The ICU team with an ECMO machine was only a few steps away, the veins into which we were going to have to insert the ECMO catheters had already been scrubbed with iodine in preparation for the dial-ysis catheter insertion, and the surgical team was already in place in the wee early hours of the morning. It was as if this boy’s body “waited for the right minute” to give out.
We finished the procedure at 3:00 am and brought the child to the ICU. At 6:30 am, as my team made rounds, we found him awake and alert, but I was a little concerned that he might have been somewhat dulled in his responses to my questions. Had his cardiac arrest, prolonged CPR, or ECMO caused neurologic damage? At 8:30 that morning, I found Mom at the bedside and asked her what she thought of his condition—specifically, his speech, thought processes, level of awareness, etc. She couldn’t figure out what I was concerned about—he’s perfect, she said, completely normal.
“Never was a rocket scientist, never will be, but he’s exactly who he was before; my boy, the love of my life!” With a big hug and tears in both of our eyes she said, “Thank you, Dr. Glick, and thank your team. Bless you!”
She and I couldn’t have been more grateful for the miracle of this boy’s extraordinary timing.
Date of event: April 2015
Right Where She Needed to Be
Matthew Old, MD
As a head and neck cancer surgeon, my patients are typically referred to me by physicians of many different specialties; patients don’t typically seek me out on their own. One day, however, a young woman working at our cancer hospital stopped me in the hallway and asked me for my opinion about her symptoms. This self-referral could not have been more appropriate or timely, and it may well have saved her life.
Elli was a college freshman interning at our cancer center. Her position was not initially supposed to be on our surgery floor, but just before starting her job she was reassigned here. I had spoken with Elli many times on the phone through her work as a liaison with the families of our patients, but I had never before met her face-to-face.
Elli told me an incredible story of symptoms lasting more than five years: dizziness, lightheadedness, intermittent face swelling, and periods of vision and hearing “blackouts.” She saw numerous doctors over that long period of time, each with a different, but reassuring, theory about what was causing her symptoms: iron deficiency, hormone changes, anxiety, recurring upper respiratory infections, and chronic tonsillitis. She received antibiotics, iron pills, and steroids to treat a variety of possible ailments suggested by the doctors. She even had her tonsils taken out. Nothing helped. She had to give up high school basketball because it made the symptoms worse, but then they began occurring during normal daily activities as well. She would fall asleep with her head to the side and wake up with stroke-like symptoms—imbalance, dizziness, nausea, and weakness. She told me she suspected something bad was happening, and then was sure of it when she felt a lump in her neck.
When I examined Elli’s mouth, I was very disturbed to find that the back of her throat wasn’t symmetric. The tissues on one side of her throat were displaced off to the side and bulging into her neck space. I ordered a CAT scan (a special kind of X-ray) and what we saw floored us—a large, baseball-size tumor at the base of her skull was totally surrounding her right carotid artery. One nerve to her tongue and voice box was already compromised by the tumor, paralyzing half of her tongue and one of her vocal cords. Carotid arteries, one on each side of the neck, provide the major source of blood, and therefore oxygen, to our brains. Elli’s tumor was so large it was not only stealing blood from her carotid artery, but also compressing the artery itself. Through a series of scans I determined the tumor was cutting off the blood flow to her brain, causing all of her symptoms for the past several years. If it continued to grow, she would almost certainly have a stroke and, possibly, lose her life. When I informed Elli about the tumor, she said she was relieved she had an answer to everything she was experiencing and that she was not “crazy” and didn’t have an anxiety disorder. On the other hand, her family was devastated, learning that suddenly her life was in a precarious balance, particularly with what she was about to face.
Our team concluded the tumor had to be removed—but the surgery we would need to perform was very complicated and risky, and could itself cause a stroke. To make matters worse, it was not only the carotid artery that was at risk due to the tumor—the nerves controlling her face, tongue, throat, and voice box were also at risk due to the location of the tumor. These are rare surgeries but I had training in them and had performed them previously, so I was confident and optimistic. However, due to the high stakes and severity of her symptoms, it was nerve-racking and stressful for all of us.
What ensued next is among the finest examples of collaborative surgery I have ever been privileged to be a part of. It took seventeen hours for our extraordinary team of three different surgeons to dissect, pry apart, tease away, and finally remove the entire tumor from Elli’s neck and base of skull. The surgery was harrowing; if we tilted her head to one side or the other, her vital signs would change—blood pressure and pulse would drop—because we were altering the blood flow to her brain through her severely narrowed carotid artery. During the procedure we realized we couldn’t save the nerves to her vocal cords and tongue. We successfully preserved her hearing and the nerves to her face so she wouldn’t have a droop. Even after surgery, we still held our breath as we noticed her lower left leg was paralyzed—but, thankfully, it is slowly recovering. Elli was left with a slightly raspy voice, weakness on the right side of her tongue, and a temporary limp. But she survived with intact hearing, no facial droop and, most importantly, without suffering a major stroke or other devastating complication. We were all relieved she pulled through it, but I credit this mostly to her resolve and determination to overcome obstacles.
To look at her today, you would have no idea what Elli has been through. Her recovery should have taken more than a year, but she returned to work two months after surgery to a surprise standing ovation from the entire staff of the surgery floor. She now uses her experiences to help our other hospitalized patients and families get through difficult times dealing with cancer and surgery. Not long after, Elli returned to college, a pre-med major, hoping to be a children’s cancer doctor someday.
We now know Elli’s tumor was a vagal paraganglioma, a very rare tumor occurring in less than one in every five million people. She, of course, had no way of knowing she had a rare paraganglioma when she stopped me in the hallway. She had heard about lymphomas, a different kind of tumor that can occur in the neck, and she was worried that’s what she had. Elli also had no way of knowing that during my training as a head and neck surgeon, my mentor was an expert in this very type of highly specialized paraganglioma surgery and taught me to become expert in that procedure as well.
There are a lot of other hospitals in town where Elli could have worked. In our hospital, there are many doctors on many different floors including many even on our surgical floor—innumerable other white-coated colleagues Elli could have asked for help. But Elli chose to work in our hospital where she asked me. Only because I worked on the same floor as she did—the floor she had been switched to at the last minute before starting her internship. As a result, an almost certain stroke was prevented just in time, and her life may have been saved as well.
Call this a case of good luck: being right where she needed to be, right when she needed to be there; doing the right job, with all the right people working beside her. Or call it serendipity, the alignment of all the stars to result in a wonderful outcome. Or call it a miracle. She and her family do, and so do I.
Date of event:1999
When Sister Bernie
Prays for You
Claudette Dalton, MD
I met Sister Bernie Kenny in the late 1990s when I organized a medical team from our university medical center to go to the mountains of southwest Virginia to help with a weekend dental and medical clinic. Sister Bernie is a Catholic nun who ran an organization called the St. Mary’s Health Wagon. This group of dedicated nurses drove around the Appalachian region near the town of Wise, in southwestern Virginia, to provide basic medical and follow-up care to the residents of the area. Geographically, this area is the “tail” of Virginia, sitting between West Virginia, Tennessee, and Kentucky. Coal mining, logging, and railroads are the main industries, but these are largely played out and dwindling along with the region. Consequently, most of the remaining population is uninsured, unemployed, and poor. They also have some of the highest rates of chronic diseases, cancer, and drug abuse in the state.
Sister Bernie also knew that there was almost no dental care in this area. So she asked a nonprofit organization called Remote Area Medical (RAM) clinic to help provide a free, once-a-year dental clinic. RAM, based in Knoxville, Tennessee, worked with the Virginia Dental Association to provide dental care over a hot summer weekend in an unused airplane hangar at the Lonesome Pine Airport just outside of Wise. Unfortunately, many of the patients were too ill with diabetes, hypertension, or heart disease to safely have dental work done. So, in planning for the next year, Sister Bernie called me to put together a medical team to complement the dental efforts.
I’m proud to say we had no trouble finding medical volunteers to spend a steamy, muddy July weekend in a remote, deserted airplane hangar more than six hours away from my home base in Charlottesville. The generosity of this extraordinary group of doctors and nurses from all over Virginia and beyond has become legendary and their work continues each summer now for the past sixteen years. But that first year, I had no idea what supplies and services we would need, where we would house and feed the team, how we would transport them and how we would follow up on patients. In the midst of this planning chaos, I got another call from Sister Bernie, now just two weeks before the event.
“Do you know,” she asked, “where we could get a mammogram van for the event?”
I replied that, as an anesthesiologist, I knew nothing about mammogram vans and I didn’t think I had the time or expertise to help her. We were in enough tumult just trying to get a medical team to Wise.
“But we have women scheduled to have mammograms,” she said. She explained that the van she had borrowed in the past for her traveling Health Wagon program was sold to someone who wouldn’t let her use it. I repeated my total inability to be of any possible help to her, especially at this late date. Mammogram vans don’t just grow on trees.
“We need a van. These women have masses and need films,” she insisted. As I opened my mouth to restate my position, she said, “I’m praying for you!” and she hung up the phone. I was completely dumbfounded!
I called the mammogram radiologist at my institution who confirmed we had no van and suggested calling another medical school, this one in Richmond. The Richmond school suggested the military. When I finally found who to call at military bases in Virginia, none of them could help. Finally, after dozens of random calls to community clinics, someone said there was an old van on blocks (no wheels) in Mount Rogers—some four hours away from us. By now, it was four days until we were to leave for the clinic in the mountains.
Now the miracles started to flow. The Mount Rogers Health District said yes, they had an old van, but it was not accredited and the equipment had not been used in years. But they would put tires on it and drive it to our university medical center. Our head mammography radiologist managed to get it refurbished and accredited—in forty-eight hours. Two days to refurbish a neglected, outdated van and accredit the neglected, outdated mammography equipment! I never asked how she did it and I never will ask. And two days before we went, I was coincidentally scheduled for my own mammogram at our medical center. The techs who took care of me offered, out of the clear blue, to go to Wise with me two days later to run the machinery and perform the mammograms!
Somehow, we managed to get the van and all the volunteers to the abandoned mountain airport hangar. The ancient machinery worked fine through Friday and Saturday, finally giving out on Sunday morning, but not before thirty women and a couple of men with breast lumps had their mammograms. Because of this confluence of small miracles to make one giant one, four women and one man with early breast cancer were detected and successfully treated. All did well.
The miracles didn’t stop with that one clinic. As a result of our experience and Sister Bernie’s persistence, our university medical center bought the van, completely updated it with new mammography equipment, and drove it all around the state serving underprivileged patients for three more years. That was so successful, they bought a new, better van and used that for another four to five years. They are now on their third van with state-of-the-art equipment. Countless lives have been saved by those vans.
For me, the moral of this story is that if Sister Bernie prays for you, shut up and get busy, because the miracles are gonna happen—and they’re gonna happen fast.
Date of event: 2005
He Was Lucky He Had AIDS
Mark F. Cotton, MMed (Paed), PhD
Barbara Laughton, MBChB, DCH, MSc
We had been planning this study since 2001, developing methods for conducting a treatment trial in babies born with HIV (human immunodeficiency virus) infection, the virus that causes AIDS (acquired immune deficiency syndrome). The study was to evaluate which approach to treating these babies was most effective—early (soon after birth) therapy for a limited time, versus deferring therapy until the signs and symptoms of AIDS develop. The latter approach was our standard at the time. You might ask, “Isn’t earlier therapy always better?” Well, not always. It’s possible that the side effects of medicines could make earlier therapy in younger babies more dangerous. Or maybe treating before the signs and symptoms of AIDS develop would be less effective than hitting the infection hard as soon as symptoms occurred.
But there was also another overriding issue—South Africa, where we care for babies with AIDS, has an impoverished public sector with very limited resources. Patients able to pay for expensive treatments could get them, but most patients were dependent on government clinics and resources. A limited course of therapy might be more cost-effective and consume fewer resources than long-term treatment started once symptoms began. And if it was more cost-effective, we could treat more children. But if we found that early therapy was more effective, could we then stop it after a limited amount of time and still see benefit? We didn’t know. If not, most patients would only improve for the time they were on medicine, and when the funds for the medicine ran out, they would worsen and could die. If we started treatment only after signs of the disease began, perhaps the same limited course of medicine would allow survival to an older age. The answers weren’t clear to us at all, hence the research study.
The study finally began in 2005, and it showed that early therapy, even for a limited time, gave better results for these babies. That was a very important find-ing and helped us plan treatment for tens of thousands of HIV-infected babies in Africa, for whom our resources were limited and had to be used judiciously.
But that wasn’t the miracle.
One of the devastating effects of AIDS in babies is impairment of brain function. As part of the study at our clinical trial site in Cape Town, we sought to determine the neuro-developmental impacts of the two different study approaches (early versus deferred treatment): how did the babies do in their childhood development: their ability to move around (locomotor skills) and coordinate precision movements (fine motor skills); interactions with their environment (personal-social skills); hearing and language development; hand-eye coordination, and their ability to think and reason. Once again, our study found early therapy had a better outcome on babies’ brains than waiting for signs and symptoms of AIDS to occur before beginning treatment. That reinforced our commitment to early therapy.
But that still wasn’t the miracle.
The miracle is the story of one little HIV-infected baby in this large and complicated research study. This little boy, Isaiah (not his real name), had a bigger head than normal but otherwise was well when he entered our AIDS treatment study. However, he started having seizures, and the vigilant study doctor ordered a brain scan, which showed unusual features suggesting this baby had something called an inborn error of metabolism, or IEM. An IEM means the chemical systems usually responsible for processing the food we eat and generating the energy and building blocks we need to survive have gone awry. In much of the Western world, especially now, routine screening of all newborns for inborn errors is conducted. That’s because recognizing these defects early in life, before the ravages of the mistaken chemical reactions can take place, can save babies’ lives and protect their brains. Mental retardation and severe developmental delays are the usual outcomes of babies who survive IEMs. But in South Africa at the time, and in much of the underdeveloped world still today, the luxury of screening for rare diseases doesn’t exist. Babies in South Africa in 2005 were not screened for IEMs. (Unfortunately, that remains true as we are writing this in 2015.) Only this baby was screened, because he had HIV infection and was in our AIDS research study, where he was noticed to have abnormal features suggesting an IEM.
AIDS and IEMs are unrelated to each other—one doesn’t cause or predispose to the other. Both damage babies’ brains, but in different ways. It turned out this baby had both. Isaiah was tested and discovered to have an IEM called glutaric aciduria type 1. This is a treatable disease, but only if it’s recognized early. In South Africa, it’s rarely if ever recognized early. Untreated, it causes toxic buildup of chemicals in the brain, causing developmental delay, seizures, abnormal muscle tone, and movement disorders that resemble cerebral palsy. Treatment is actually easy and relatively cheap: mostly nutritional, avoiding foods containing chemicals that cannot be processed correctly because of the defect, and supplementing with other foods to provide adequate nutrition. This is especially important at times of metabolic stress such as during fevers. When glutaric aciduria type 1 is treated early, the results are very favorable.
Isaiah was treated early for both his HIV infection and for his IEM. His AIDS was treated with three effective medicines provided for him early in his life as part of the research trial. His inborn error was also treated early, but only because he was “lucky” enough to be infected with the virus that causes AIDS and to have been noticed to have a large head and seizures during his evaluation for the AIDS study. Isaiah did well on both counts, controlling his AIDS and his IEM.
A study published in 2010 reviewed the outcomes of more than a dozen kids diagnosed with glutaric aciduria type 1 in South Africa once reliable testing became widely available around 2008. All but one of those babies who, like Isaiah, was by chance diagnosed early (not as part of an AIDS trial, but as part of a different research trial), were devastated by the defect. We believe Isaiah and that other baby are the only children born in Africa with this IEM prior to 2008 who turned out neurologically normal.
Yes, Isaiah was lucky he was infected with the AIDS virus.
For more information about the research on the best approach to therapy in South African babies born with AIDS, see:
MF Cotton, A Violari, K Otwombe, et al. Early time-limited antiretroviral therapy versus deferred therapy in South African infants infected with HIV: results from the children with HIV early antiretroviral (CHER) randomised trial. Lancet 2013; 382: 1555–63.
B Laughton, M Cornell, D Grove, et al. Early antiretroviral therapy improves neurodevelopmental outcomes in infants. AIDS. 2012 Aug 24; 26 (13): 1685–90.
For more information on glutaric aciduria type 1 in South African children, see:
G van der Watt, E Owen, P Berman, et al. Glutaric aciduria type 1 in South Africa—high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans. Molecular Genetics and Metabolism 101: 2010. 178–182.