I do not usually attend my patient’s sleep studies, but this was different. I had blatantly missed the diagnosis! As I sat in a chair next to his bed, I was struck by how much time he actually spent without breathing. With electrodes and thermistors passing information from his troubled body to the computers and monitors in the next room, I hastened to learn the details of what my heart already knew. I could see the 60 second periods of apnea traced onto the computer screen. His oxygen saturations plunged from highs of 90% down to a nadir of 42%, meaning that less than half of his blood had oxygen traveling with it. How was this patient (who happened to be my brother-in-law) capable of any meaningful existence under these circumstances? How much had he suffered because of my oversight?
I should have made the diagnosis years ago. After all, I am a pulmonologist well versed in the disabling aspects experienced by patients with severe sleep apnea. Having given grand rounds and read extensively on sleep-related breathing disorders in Down’s syndrome, one would think that I could have recognized such an overt “case.” Then again, this patient was my brother-in-law, and I had been blind to his affliction.
Greg is 30 years old and has Down’s syndrome. He stands 5 feet tall and is a robust 145 pounds. He is a courageous child encased in an adult’s body and plagued by the limitations of Down’s syndrome. The striking thing is that he does not realize the gravity of his impediments. Consequently, he has always been consistently cheerful and up-beat, a phenomenon common to most people with Down’s. Over the years, without our cognizance that his protuberant belly could contribute to any medical problems, most gifts to Greg have been food! One of the most moving images that I have ever seen is his innocent smile, beaming from ear to ear, when he eats an ice cream cone.
Recently, though, the glimmer in his eyes had become more blood-shot. While he still smiled, he seemed tired. The family had noticed the change in his energy level for quite some time. Both in the mornings and at work bussing tables, he was in a stupor. Where once he had told stories and asked questions with surprising alacrity, he no longer engaged in conversations easily. When asked about this by my mother-in-law, I told her that perhaps it was the natural development of his personality. In truth I had wondered if perhaps he was developing the accelerated Alzheimer’s disease that afflicts people with Down’s. However, so as not to cause her concern, I chose not to tell her of my fears. In retrospect, my passivity as a physician and family member permitted his well-being to deteriorate. “Poor Greg,” I thought, “he is just not doing well these days,” and I took my observations no further!
Over a recent holiday visit, I watched Greg plunge into sleep after a full dinner. His snoring, which the family had joked about for years, began almost immediately. Then rhythmically, his breathing would start and stop, start and stop. I saw his belly and chest chasing each other in paradoxical motion. Apnea episodes that were initially 10 to 15 seconds long soon extended into what seemed like an eternity. With each failed attempt to breathe, my heart sank. As if my mind was working in slow motion, I finally realized that he had sleep apnea! Having always wanted to shelter Greg from any harm, I had let my emotions cloud my diagnostic abilities. In this moment of epiphany, I transcended from a lay, paternal frame of mind, into the physician that I become when I don my white coat and stethoscope. The most distressing thing about the experience was that on a daily basis I easily diagnose this disorder in much less obviously affected patients. Here in my own house, and in someone very dear to me, I had missed the most obvious reason for his seeming so aloof. As a physician, I was annoyed with myself and my pride was hurt. As his guardian and brother-in-law, I felt guilty for “allowing” his disease to progress to this degree.
Determined not to confound further the roles of brother and physician, I quickly contacted a colleague to tell him of my revelation and to ask him to undertake Greg’s evaluation and therapy. On the following evening, he underwent a polysomnogram in our hospital’s sleep lab; I insisted on staying with him for the study. Through all of this, I carried a sense of culpability that I am still not sure was justified. At least on this occasion, however, I tried not to concede to my own powerful ability to rationalize the situation for my own comfort. As more of a father than a physician pursuing a diagnosis, I tried with difficulty to explain to him why so many electrodes and wires had to be connected to his scalp and torso.
The magnitude of Greg’s sleep apnea proved profound. More than 100 times per hour he would awaken due to his inability to breathe. He never progressed into deep sleep for any meaningful length of time, and, as the night wore on, he experienced cardiac arrhythmias and severe hypoxemia. As I sat up watching him, my role was clearly not as a doctor who specializes in pulmonary medicine. That “hat” was left at home. I was a terrified brother faced with the now uncertain future for my previously radiant brother-in-law. Would this disease, coupled with Down’s syndrome, further shorten his life span? How would he tolerate therapy? Would it be possible for him to lose weight? Could he understand that we were not trying to punish him in any way, and that it was not his fault?
Next to Greg’s blissful demeanor, his greatest virtue may be trust. His immense belief in me as a brother, not as a doctor, has allowed him to accept his continuous positive airway pressure (CPAP) mask at night. While poor compliance is a notorious problem in treating the majority of patients with sleep apnea, Greg wears the mask religiously throughout the night simply because we have asked him! The first evening at home, I laid him down gently and coaxed him to remain calm while I stressed that this would make him “better.” I placed the mask and straps around his face and head. Silently, I prayed that he could comprehend its necessity. I remember hoping that things had not progressed too far, and that the CPAP mask would not only improve his health, but also, selfishly, would relieve my guilt and sense of incompetence. Happily, through this therapy, he has effectively gained a new lease on life. The family says they have not seen him this alert in years. With the haze of his perpetual exhaustion lifted, I constantly see him chasing and playing games with our girls.
Most physicians resist the temptation to diagnose and treat their own family members. Maybe this is my excuse, a way to exculpate myself for not diagnosing Greg’s life-threatening sleep apnea sooner. All physicians have loved ones who will inevitably fall prey to illness, and, like me, will on occasion stumble with diagnoses. I think that I had a practice of either being at work and thinking as a physician or being “off duty” altogether. As physicians, we are trained to abide by the philosophy of “primum non nocere.” Is it prudent, then, to “take off our doctor’s hats” to the extent that we discount or miss potentially hazardous diagnoses in friends or family? Perhaps not! My objectivity may have been blurred by being too close to the patient, blinding me to the physical signs of Greg’s disease progression. My emotional attachment to Greg is only human, yet it may have interfered with my decision making under the circumstances. Lastly, I think that I diffused the responsibility of his medical care onto his life-long doctor. In many ways, mine was a “sin” of omission, not commission.
As with most facets of life, balance is probably the key to this dilemma. While I am pleased that I stepped in as a physician when I did in Greg’s life, I am more thankful that I was able to participate as his brother. Initially, I was despondent and felt that I had fallen short as both a doctor and a friend. With the passing of time, Greg’s remarkable recovery and his tolerance of the CPAP mask have left me feeling worthwhile about my role and that I am not physician manqué. As always, I have learned more from the patient than the patient has gained from me.
I suspect that all physicians will miss numerous diagnoses in their lifetime, feel poorly about their inadequacies, and seek peace of mind in some manner. For me, absolution has come via several avenues. The clinical success of establishing the diagnosis and proceeding with the appropriate treatment for Greg, however belated this may have been, was intellectually very fulfilling. Most circumstances would require that a physician be forgiven by the patient in order to expiate blame. Yet here, Greg does not perceive that there is anything for which to grant forgiveness. His inability to comprehend his disease or my delay in figuring it out, prevents me from obtaining true absolution from him. Instead, I have been absolved of my “sin” by my spouse, my in-laws, and most importantly, by myself. In addition, restoration of his personality as a paragon of hope and joy for others has the potential to impact on all who cross his path. I, for one, am pleased to say that I was able to contribute in rekindling the radiance of Greg’s glance by being both his brother and a doctor.