Adapted and reprinted, with permission, from a Discover Magazine article, appearing in “Vital Signs” – January 2012 issue
By Will Smythe
One of my junior surgical partners, Dr. Reese, called me from his clinic.
“Hey, would you mind coming down?” he hesitated, “I just haven’t ever seen anything like this before.” He met me at the exam room door, wide eyed, with the patient’s chart in one hand, nervously slapping it into the other palm.
“This is wild,” he murmured, “a forty-year old man with bony masses in several areas of his body since childhood – hips, face… everywhere. Now he has one in his chest that we might need to deal with – I’m just not sure it will be possible.”
We walked over to a computer to take a look at the CT scan. He sat down and typed in the patient’s information on the keyboard – the images came up.
“Wow, you weren’t kidding”, I said, unconsciously leaning in closer to the screen.
There was a complex tumor mass originating from the ribs of the patient’s left chest wall, completely filling the left chest. His heart, which would normally reside with the left lung, was pushed completely to the right side.
The consistency of the tumor was unusual – most cancers appear more or less solid on X-rays, but this one looked like a collection of giant popcorn kernels drawn by a child with a white crayon on the dark background of the radiograph.
“Where’s the left lung?” I asked.
“Good question,” Reese replied, “I don’t see it, do you?”
“No, nothing”, I said, puzzled, “were the previous masses malignant?”
“No, not malignant,” Dr. Reese replied, “benign.”
The most famous individual suffering from a syndrome of diffuse benign bony tumors was Joseph Merrick, the “Elephant Man”. Merrick lived in London in the late 1800’s and became a well-known figure, largely due to his exploitation by others as a medical curiosity, his appearance altered dramatically by his disease. Although debated for more than one hundred years, the causes most commonly mentioned by those examining his case are neurofibromatosis, the Proteus Syndrome, Mafucci Syndrome, and polyostotic fibrous dysplasia – all rare diseases with overlapping physical manifestations.
As all physicians are trained to do, I started the process of ruling things out, and ruling them in almost immediately. With experience this process, termed “coming up with a differential diagnosis” is accomplished on two levels – one a very conscious and active process, and one much more complex and occult – embedded in the neural memory, and the subconscious mind.
The conscious process involves asking a set of systemically organized questions designed to narrow the possible disease processes being observed until only one really makes sense. In this light, all physicians are students of Karl Popper – the famous philosopher of science who argued that skepticism, or the elimination of possibilities, is always superior to taking a stance and trying to prove it.
However, perhaps more important is the unfathomable information processing that is related to one’s experience – the thirty thousand previous X-rays reviewed, the twenty thousand cases that have been performed, the hundreds of thousands of discussions one has had with patients and other physicians… all woven into the grey matter of an experienced surgeon’s brain. Here, decisions are made and syntheses in are performed in the subconscious that currently escape even the most sophisticated computer-based artificial intelligence – at least for now.
“Does he have any skin abnormalities, or diffuse soft-tissue nodules?” I asked.
“No,” Reese replied, “just obvious bony abnormalities – all over the place.”
This likely ruled out the neurofibromatoses, or Mafucci’s – both of which combine bony growths in various areas with abnormal multiple fleshy, nodular skin lesions. Neurofibromatosis is also associated with “café-au’lait” spots, splotchy, light to dark brown discoloration of the skin – reminiscent of giant geographic “freckles”.
Proteus syndrome, a member of a larger group of abnormalities known as the “PTEN harmatoma tumor syndromes” (characterized by abnormalities in the PTEN – “phosphatase and tensin homolog gene”) and polyostotic fibrous dysplasia were both still options, but there had only been about two hundred documented cases of Proteus syndrome since it was described.
“Have you had a chance to review his past medical history?” I asked.
“Not yet,” he replied, “I called you as soon as I saw the films.”
We closed the X-ray program and opened up the patient’s electronic medical record. His was a truly tale of woe and long-suffering – multiple operations related to these bony tumors from childhood, including removal of his right eye at one point, as well as other craniofacial, hip and lower extremity procedures. Like small glaciers moving within and across the surfaces of his body, these bony lesions had remodeled or crowded out his normal anatomy – pushing his organs like his heart into areas where they shouldn’t be, or in the case of his lung, potentially obliterating them.
The chart review determined that previously, doctors had given him a diagnosis of fibrous dysplasia. Fibrous dysplasia is a random, or non-inherited, genetic disease process, involving a mutation in a gene that codes for a portion of a protein called “Gs”. When mutated, this gene leads to abnormal growth and function of the cells that create bone.
Dr. Reese suggested that he and I see the patient together. “He’s young, and these are benign tumors,” I said as we walked toward the exam room door, “so why do you think he might benefit from surgery?”
“Because he’s suffocating,” he replied.
We entered the room, to find Mr. Cortez, crowded into the small space along with eight women – his sisters, cousins and aunts. He was wearing a nasal cannula – plastic tubing running from an oxygen tank to his nose. A peculiar observation that distracted me for a moment was the fact that the average height of the women was at best somewhere around four foot eight, and Mr. Cortez was about six foot seven – it was as if the Lilliputians had decided to bring Gulliver in for some medical maintenance.
Mr. Cortez’s head was one and one-half times the normal size, and subtly misshapen, with “lumpy” areas. He wore a baseball cap that seemed as if it were four sizes too small. He had a prosthetic left eye, and stood with a stoop, his unusually large hands grasping the handlebar of a walker. His speech was very deep and halting, the latter due to his shortness of breath. He would gasp for several seconds after speaking, sucking in oxygen through the clear plastic tubing in his nostrils.
Polyostotic (literally, “many bones”) fibrous dysplasia with endocrine, or glandular, abnormalities is termed McCune-Albright Syndrome. Although the isolated form of fibrous dysplasia (changes in one bone or area) numbers about 30,000 patients worldwide, McCune-Albright affects only 1000 or so. Mr. Cortez met the criteria, with diffuse bony masses, which result from the unusual breakdown of normal bone in multiple areas of his body, and overzealous replacement with fibrous tissue, and acromegaly – a disorder related to the overproduction of growth hormone from the pituitary gland, leading to increased height, and enlargement of the hands and facial bones.
After introductions, I asked him, “Mr. Cortez, why did you come to see us?”
“I wanted to know if you could help me,” he replied, “I’ve been fighting this since I was a little boy… first the operations, and then… then folks making fun of me.” He stopped, tears welling up in his eyes, and several of the tiny women began crying.
“I can’t get around, doc, and my breathing is really bad,” he gathered himself, wiped the tears from his eyes with back of one of his giant hands, and continued, “I want to do normal things, you know, the stuff everyone else gets to do… I want to coach little league baseball.”
“I understand,” I replied, “I’m afraid that this is going to get worse, and I don’t know how much longer you have if nothing is done.”
“What are my options, doc?” he asked. I watched his fingers squeezing, then releasing the handlebar of the walker repeatedly.
I looked up at his face, “removing the mass in your chest is the only chance of getting better, but I need to test your lung function so that we can understand whether or not you can tolerate the operation. It looks as if your left lung is basically gone. It’s possible that you just don’t have enough lung function for us to do this operation.”
“Okay, doc,” he replied.
We went ahead with the tests, and few days later, reviewed the results. Unfortunately, our concerns were substantiated – Mr. Cortez’s lung function was only about twelve percent of normal. Dr. Reese and I met to discuss.
“I don’t think he’ll survive it,” Dr. Reese commented, “just removing the bony tumor will not be enough – he needs more lung tissue.”
“I know,” I replied, “but I think we might have a chance.”
“I’ve operated on a number of patients with bullous disease,” I replied, “and I think this might be similar.”
Dr. Reese looked at me quizzically.
What I knew was that “bullous disease” is a form of emphysema in which an area of a patient’s lungs degenerates and basically becomes a balloon that enlarges with air over time. As it enlarges, it compresses the adjacent, normal lung. Often times, when this ballooned-out area is removed surgically, the normal, compressed lung around it re-expands dramatically, even if it has been compressed for months or even years.
“This should be the same – there’s theoretically nothing wrong with his lung, just compressed over time by the bony mass,” I told Dr. Reese, trying to sound confident.
“Possibly for decades,” Reese added doubtfully, shaking his head “but that presupposes that he has some lung there, doesn’t it? What if we remove the tumor and there isn’t any lung there, or what’s there can’t re-inflate?”
“He won’t survive,” I replied, “he’ll die on the table, or shortly after the operation…”
We called Mr. Cortez, and discussed the options. He was adamant that he did not want to have surgery when we laid out the odds and the dilemma.
However, a week later, he called us back, and showed up for another appointment.
He was sitting in the exam room when we walked in, but stood up slowly, grasping the handlebar of his walker to steady himself. He was so tall, and his movements were so slowed by his underlying breathing difficulty that he appeared to be “unfolding” more than standing up.
“I changed my mind,” he said forcefully, “I want to live, and I don’t want to live like this.” He hesitated and looked at the faces of the tiny women accompanying him, “I’ll take my chances, even if they aren’t so good.”
The Lilliputians accompanying him all simultaneously burst into tears.
When I visited him in the holding area prior to surgery, Mr. Cortez grinned crookedly, his left eye pointing out the door and down the hall toward the operating room, and his right focused on me, as he shook my hand.
We placed Mr. Cortez on his side with his left chest up, and got started. Four of his ribs had fused into a solid mass, which extended inward. In the area of his spine, the mass had fused rib and vertebral body and tumor into one huge bone – we actually used a large hammer and chisel to separate it from his spinal cord area – these were not the type of tools we commonly used in thoracic surgyer while operating on the soft, fragile organs that those ribs were designed, in fact, to protect.
Once the mass was freed form the spine, and the ribs divided all around, it had to be separated from the center of his chest. Here it was not invading anything, but avidly adherent – stuck to what was underneath, and underneath the mass was where the lung would be, if there was any present. The tumor mass, the size of a watermelon, was too heavy; however, to lift and hold steady, away from the vital organs (heart, esophagus, great vessels, and possibly, lung). We had to employ a hook and crank system attached to the operating room bed, normally reserved for large orthopedic procedures, to stabilize it, and lift it up and away from the patient’s body.
I felt under the tumor, where I could not yet see, with my fingers. “It’s soft,” I said, unconvincingly, but not much of anything there.”
“Does it feel like lung?” Reese asked.
We used the electric knife, the electrocautery, to separate the mass from this tissue, and the huge, bulky tumor was gradually elevated up and out of the wound.
Finally, it was free. Dr. Reese cradled it in his arms, and set it on a sterile scale on the nurse’s stand. “Nine kilograms,” he proclaimed, looking over his mast at me in amazement, “almost twenty pounds.”
When he walked back to the table, he saw me staring into the empty space.
“Well?” he asked, sheepishly.
“It looks like lung tissue,” I said. My heart was pounding, and my hands were trembling.
Gratefully, losing a patient in the operating room was something I had experienced very few times in my career. That being said, the increasing possibility was triggering my own body’s innate fear response.
At the bottom of the wound was some pink fleshy material, no more than three millimeters thick.
I pointed to the pancake-like tissue. “I think this is lung,” I replied, “but there isn’t much of it.” I looked up at Dr. Reese. He silently returned my anxious stare.
“Are we going to try?” he asked.
I looked up at the anesthesiologist. The scrub nurse and a medical student were standing next to Dr. Reese and myself, respectively. No one spoke for several moments. The chest cavity and its little pink pancake moved along with the sound of the anesthesia machine, “psssstup,… psssstup”, inflating the lung hidden on the other side of the chest.
The breathing tube that anesthesiologist inserts at the beginning of a lung operation has two channels – one to each lung. When operating, one side of the tube is clamped, and all of the airflow is directed to the lung that isn’t being treated – allowing the one you are working on to collapse and not move with respiration.
“Okay,” I said, “unclamp the tube.” The anesthesiologist complied, and we watched, all of our hands resting on the patient, as if trying to levitate something at a vaudeville magic show.
Several breaths were delivered… but no inflation… nothing.
Suddenly, a couple of small areas popped up, like pink bubblegum bubbles – then, a few more. The pancake thickened, and thickened again, and then, more bubbles, which grew and coalesced with others… Within three minutes, the entire lung had re-inflated, from a flat spongy nothingness to a real lung – thirty times its size before inflating it.
“Its working,” the anesthesiologist reported from the other side of the drape, “good oxygen exchange from that lung!”
“Impossible,” Dr. Reese murmured under his breath, “impossible.”
I smiled behind my mask, and shook my head.
Within a month, Mr. Cortez was off of oxygen, and walking without a walker.
Completely by chance one night at home a few months later, right before I turned the light out on my bed stand to go to sleep, I caught a glimpse of someone that looked familiar on a late night television news spot. After a couple of seconds, I realized that it was Mr. Cortez – a local station had evidently put together a feature story on his fight and recovery. I propped myself up on my elbow and squinted at the bright television image across the dark room.
I had been reading a book, and had turned the television volume down earlier so that it wouldn’t awaken my wife, who was already asleep beside me. However, I didn’t need the narrative to let me know how things were going – I saw him smiling into the camera, walking without his walker and without any oxygen tubing in his nose,
He was surrounded by a large group of little boys in matching baseball caps.