Alberto, the decedent, had been transferred to our hospital from a chronic care institution. He was 64 years old and his diagnosis on admission was acute bacterial pneumonia. He had died after but a few days of hospitalization.
A 64-year lifespan seems unusually short in today’s world, but for a person as disabled as Alberto, his survival was remarkable. Alberto had Down’s Syndrome, and, as I had learned from his hospital record, his functional abilities were quite low on the Down’s spectrum. He had never been able to use language, to feed or dress himself, or to use a toilet. He had lived his life as a perpetual infant. He had spent his adolescent and adult years under the care of an older sister named Carmen. Carmen had never married and had devoted all her nonworking hours to tending to Alberto’s enormous needs. Carmen had recently died, and there was then no alternative for Alberto but institutionalization. After little more than a week in the chronic care facility, he contracted the pneumonia that brought him to his death.
I performed the autopsy on Alberto’s body during my first year of training in pathology. The purpose of the autopsy, as with all medical autopsies, was two-fold: to make a definitive determination of the cause of his death, and to study the disease processes evident in the body’s tissues and organs. Like all my fellow trainees, I had expert supervision carrying out this assignment.
I presented my preliminary results to a highly respected elderly pathologist, once the chair of our hospital’s and medical school’s pathology department, at a working conference in the hospital mortuary. The Chief said very little as I listed and demonstrated my findings, apparently agreeing with my interpretations. When I had finished, he remained silent for few moments before he spoke. “Look, fellows, this is not the usual kind of case we’re accustomed to seeing here. Most of the time when we are asked to give a cause of death we are speaking to people – our clinician colleagues and patient’s families – who have been surprised that the patient has died. Maybe not surprised that death occurred at all, especially if the person was known to have a disease that could be fatal, but they would like to know, why now? Why at this time and under these conditions? But that’s not what we have here. The question is, the thing that is surprising is, how could this person who was so seriously disabled have lived so long? People with Down’s Syndrome just don’t live into old age! And I don’t know if anything we could possibly find here helps answer that question. And as for the cause of Alberto’s death, any intelligent lay person who heard his story could see that it was the death of his sister, and nothing else, that was actually to blame. She was able, in some inexplicable way, to keep this poor fellow alive all those years, and as soon as she was out of the picture the condition took its natural course. But that’s not a medically acceptable cause of death, of course, just common sense. So let’s see how we can parse the findings in a way that will work on the death certificate.”
A medically acceptable cause of death is by definition a specific disease, which, among all the diseases the decedent was known to have had at the time of death, was the most important in bringing ongoing life processes to a halt. Performance of an autopsy involves three steps: (1) making an inventory of all the ways in which the tissues and organs of the body have been rendered structurally abnormal, i.e. compiling a list of all lesions that are present; (2) ascribing these structural abnormalities to the one or more disease processes (in violent deaths, to the forms of traumatic injury) that are known to produce such lesions; (3) constructing a prioritized list of these diseases, at the top of the list the disease judged most likely to have ended the living state. This #1 disease then becomes the official cause of death. It need not be a universally fatal disease, only one that could plausibly be fatal in the absence of a competing cause. When pathologists conduct autopsies on patients who have died in the hospital, they always consider information from the hospital record when carrying out steps (2) and (3). Some important diseases are more clearly manifested in physiologic (functional) rather than structural (anatomic) changes, diabetes and hypertension, for example, and this information can usually be found in the patient’s clinical record.
The autopsy pathologist following this protocol must also be careful, in carrying out step (1), not to include lesions that are agonal in nature, that is, lesions that were produced during the last minutes or hours of the patient’s life, lesions generated during the process of dying, caused by terminal shock or decerebration. There are also nonspecific lesions that, while not agonal—they typically have been present for at least a few days before the agonal phase—are markers for the mechanism of the patient’s death. They are the last straw that breaks the camel’s back; they are not specific for the underlying major illness but may be regarded as the precipitants of death. Therefore, their explanatory power is limited to why the patient died at this particular time, but they do not address the ultimate why, why he or she died at all.
In Alberto’s case, the acute bacterial pneumonia that had been diagnosed during his last days of life, and confirmed at his autopsy, must be considered one of these secondary phenomena, the precipitant and not the cause of his death. Acute bacterial pneumonia can legitimately be regarded as a cause of death in some instances, classically when a previously healthy person is exposed to a particularly virulent bacterium being disseminated during an epidermic, and as a result develops infection and inflammation in the lung, loses a significant amount of previously functioning lung tissue, and dies in acute respiratory failure. Alberto’s situation is more like that of the isolated bedridden patient with advanced malignant disease, severe heart failure, or an extensive stroke, who develops pneumonia when he aspirates bacteria-containing secretions from his upper aerodigestive tract into his lung, and the lung’s normal defense system is unable to clear them. That is, he infects his lungs with his own bacteria. (All normal human beings have a variety of bacterial organisms colonizing their throats; they are harmless as long as they remain confined to this location.) Bacteria displaced into the lower airspaces of the lung elicit inflammation, creating the lesion defined as pneumonia, and subclassified as endogenous or secondary pneumonia when the responsible organisms are the patient’s own. Inflammation causes fluid to flood the lung’s airspaces and they can no longer participate in respiratory gas exchange.
Alberto’s death certificate was therefore properly completed as:
Acute bacterial bronchopneumonia, endogenous type (due to or as a result of):
Down’s Syndrome (Trisomy 21, Mongolism)
(Listing Down’s Syndrome in the final line on the death certificate indicates that it is the true and ultimate cause of the patient’s death, and it ensures his death will be categorized under this heading when death certificate data from multiple decedents are combined to calculate population mortality statistics. In other words, diseases are listed on death certificates, by convention, in reverse order of importance.)
This formulation, which is acceptable in the logic of medicine, might seem strange to a lay person. How could a condition present since before birth be causally responsible for a something that happens to a person more than sixty years later, a condition that has been a part of him his entire life, something that has determined his identity? And how could a complex entity like, Down’s Syndrome, which is not associated with any characteristic changes in the lung, play a causal role in the chain of events that produced bacterial pneumonia?
The latter question is the most easily addressed, if we are thinking as a doctor might. The natural defense system of the lung consists of mucus and ciliated cells that sweep and clear microscopic particles out of the lower airspaces, and neural-mediated reflexes that protect and clear the upper airways. Conditions that impair the function of the nervous system (a stroke, infection, or degenerative disease of the nervous system, for example) can compromise the effectiveness of the upper airway reflexes. Down’s Syndrome is associated with complex nervous system pathologies, as evident the limitations of cognitive function typical of the disorder. An individual like Alberto therefore likely had less than optimal reflexes protecting his upper airways; when these reflexes are compromised, the clearance of the lower airspaces is also impaired, since the two lung defense systems work together in a coordinated way. Such a person is inherently at risk for secondary pneumonia, and we can readily suppose that this was true of Alberto throughout his life. He had lived his entire life on the edge of a precipice.
In addressing the earlier question, how a life-long condition could be that which kills us, we may be tempted to think like a philosopher rather than a doctor. We are all of us, after all, mortal creatures, fated to meet death some day from the moment we were conceived in our mother’s womb. So in that sense, to be a living human being carries with it the seeds of one’s own destruction. But that’s not how the medical enterprise sees it. Doctors view diseases as entities originating in the world outside us, malevolent predators that pounce on us, catch us unaware while we are going about the business of living. Having been born mortal is not a medically legitimate cause of death. In the medical mindset, death of an individual always requires an explanation; on Alberto’s death certificate Down’s Syndrome becomes his affliction, not his identity.
I believe our esteemed pathology Chief may have been overly pessimistic when he predicted that our autopsy findings would not be able to explain Alberto’s comparatively long life. We need to think about the biological defenses of the lung in Alberto’s individual context and the nursing care he was receiving at home. An individual is most at risk of aspirating potentially infectious material from the throat into the lung when feeding, when suffering an upper respiratory infection with the attendant outpouring of secretions, or when sleeping. If the individual is an infant requiring the active assistance of a nurse for feeding and keeping the upper respiratory passages clear, the skill, experience, and dedication of the nurse can help control the risk of aspiration. I would like to imagine that Carmen provided this level of dedication and care as she nursed Alberto through those many days of his life. When we learn that Alberto died of an aspiration-induced event almost immediately after being transferred to institutional care, we might be drawn to the cynical view that this institution must have provided shoddy care. I would prefer to think otherwise, that it’s more likely the quality of his care there was within the customary standards of a skilled nursing facility, but that no institution, no organization run by teams of people, could possibly reach the same levels of meticulousness and diligence as a single individual who had taken on the task of caring for a perpetual infant as her soul purpose in life. We know of the spectacular accomplishments that certain gifted artists in our society, who drive themselves unceasingly toward a single goal, are capable of during their careers, and we know that such dazzling solo achievements never come from committees. Ordinarily, we would not think of nursing as a field in which spectacular accomplishments could be achieved through the efforts of a single heroically dedicated person; yet I can imagine that Carmen’s work caring for Alberto, her one and only patient, might have risen to such a level, a level of sheer artistry. I can imagine her carefully gauging his responses as she administered his feedings and cleansed his upper airways, tuning her own maneuvers to maximize his safety and comfort at all times. And how lightly she must have slept at night, always nearby Alberto’s bed, ready to waken and respond immediately if she heard sounds of aspiration. And I can imagine how diligent and careful she must have been as she attended to all his other bodily needs as they went through their daily routine. It was inherent in her accomplishment that it was performed in a private, intimate space, out of the view of the community, and could never have been properly celebrated in the world outside.
What can we gather about the quality of Carmen’s life now, having now seen its culmination? She had sacrificed much as she carried out the life she chose. She had no marriage, children, or career, and did not participate much in civic life or social organizations, as far as we know. Some might take this as evidence of an empty life. But we know that for some people, the most fulfilling life is one dedicated to serving others. But, to be fulfilling, must that service be to a multitude of others, as it was in the case of Mother Teresa? Or must the services given involve expression of thoughts and feelings through words? What if the needs being served belong to a single, enormously needy individual, an individual with all the needs of a multitude, a being who would perish if those needs were not met each day without fail, an individual beyond the reach of words? I have no answer to these questions. But I do know such a life is beyond my own capabilities, and probably of most others.
Finally, what can we make of this enduring, strikingly asymmetric relationship between Alberto and Carmen, this extreme state of coupled dependence in which one partner must constantly rely on the other for his very life and being? We might suppose that it is something like the relationship between a mother and her infant, which involves a similar degree of dependence. Many of us have experienced such a relationship first hand, including those of us who are men, since fathers in modern times have taken on more of the tasks of child-rearing. Most of us remember these early years of child care as personally rewarding but also very hard. We had to give up many of our personal liberties to make ourselves available to attend to our baby’s needs, including the luxury of a full night’s sleep. One thing that made it more bearable was the knowledge that this was only a temporary state of deprivation for us, that before long the baby would grow and develop and become gradually less and less dependent on us, and we would ultimately have the satisfaction of seeing the baby become a fully autonomous adult human being. This, of course, was not in the cards for Carmen and Alberto. How often did this thought enter Carmen’s mind as she administered care to her tragically helpless little brother, permanently stuck in a state of arrested development beyond which he would never progress? Was she carrying out the task of Sisyphus? How could she have dealt with it?
Those of us who’ve experienced parenthood also remember the intense love we felt for out babies as we nurtured them through infancy. Some people I know recall they were actually blown away by the intensity of that love, the love that overcame them as they first held their child in their arms. They didn’t expect this. They may have been around other people’s children before and felt affection for them, but never anything like what they now felt for this new child that was unequivocally theirs, this child that had once been part of their very bodies. Is it not possible, likely even, that this is the sort of love that Carmen bore toward Alberto, sibling though she was and not parent?
We can also imagine that Alfredo brought something important to this relationship. People with Down’s Syndrome are typically very loving and spontaneously affectionate. We can assume it is, in some complicated way, encoded in their altered genes, it is observed so consistently. Down’s patients I encountered in my own training in pediatrics yearned to be embraced and caressed at all times, and their bonds to their parents always seemed unusually strong. I can imagine, then, Alberto reacting to Carmen’s caring gestures with adoring hugs and warm vocalizations (words being beyond him) and all the intensity of love his body allowed him to express. And it would have been a love that never tired, never flagged. Who knows, perhaps it even grew stronger as the years went on.
And how profound must the grief have been, that enveloped Alberto’s heart as he realized Carmen had disappeared from his life!
Our culture reveres certain romantic lovers from history and myth, believing them to have known the greatest loves ever to exist between two human beings: Romeo and Juliet, Tristan and Isolde, Dido and Aeneas, Antony and Cleopatra, Heloise and Abelard. Is it possible that the love between siblings Alberto and Carmen, behind the silent walls of their little home in the Bronx, was the equal of theirs?
