Breath by breath

At 9am this morning I sat on a pleasant 40 something year old woman's bed. The sun was dancing off the buildings out her 14th floor windows, splashing Boston with the energetic glow of late spring. I took a breath and thought about that breath. Once, when I was an inpatient, I counted breaths for hours. I listened to the ins and outs, and pondered day after day about how much I had taken for granted, like the invisible air around me, or brushing my own teeth, or taking a shower, or walking. The woman on whose bed I sat has a limited number of breaths left in her lungs. But hopefully she was not partaking in my maddening count. She has more important things on her mind, like the fact that she is scheduled for a bilateral lung transplant in a month or so. That means, in English, that she is going to have both of someone else's lungs replace her own- an absolutely mind blowing feat of modern technology, medicine, thinking and reasoning. But the back story, and what has transpired in the past week which lead me to her bedside this morning is more amazing than the surgery itself.

6 years ago, this pleasant mother and wife developed a cough. She thought nothing of it for about a half of a year, and then, at the suggestion of a friend, she sought advice from her doctor. She was prescribed cough medicines and after another month an X-ray was done which was fairly unremarkable. But as the cough persisted, she underwent a CT scan and that revealed pulmonary fibrosis, or scarring of the lungs. At the time the scarring was minimal, and she was followed closely by a pulmonologist who measured her lung function and noted, throughout the next year that this steadily declined. At the time she also had hoarseness and saw a gastroenterologist who prescribed an antacid. The gastroenterologist also performed an endoscopy, looking into her stomach and small bowel. All seemed fairly normal and life went on.

Over the next 5 years, her lungs steadily declined. The working diagnosis was "Idiopathic Pulmonary Fibrosis" which means "Fibrosis for god knows why." In fact, the word "Idiopathic" scares me as a doctor for that is when we reach the boundary between what we know and what we do not know and admit defeat. Almost every organ has its idiopathic conditions. Strictly speaking, the word is defined as: Arising spontaneously or from an obscure or unknown cause. It hails originally from the Greek ἴδιος, idios (one's own) + πάθος, pathos (suffering), and translates more appropriately to something like "a disease of its own kind." All in all, if you get sick, you don't want the word idiopathic thrown in- because usually "there is very little we can do" soon follows. Eventually, as many who suffer from debilitating lung disease come to learn, the pressures in her pulmonary artery increased leading to pulmonary hypertension and subsequent heart disease as well. In those same 5 years, she had 2 additional endoscopies performed by her gastroenterologist for progressive food sticking. Swallowing became a nuisance for her, and while she got most foods down, it often took water to "rinse" down a meal before she felt like it was out of her chest.

I met her last week, when the team caring for her called a gastroenterology consult on the supposed last day of her admission. She was in the hospital for a pre-transplant evaluation, when a series of tests are performed to evaluate how someone is doing from a lung perspective and how they will do post-operatively. She happened to mention the swallowing issue and an astute intern thought it was worth mentioning to an equally astute surgeon who called our team to see her. Luckily for me, I was on call that day, which meant that I was answering pages (38 that morning). I eventually made my way to her chart, and then to her and listened to the whole story. I asked her about her swallowing, and found out an amazing amount of detail about the sensation of food sticking, about what brought it on, and when. I found out that cold foods sometimes triggered her symptoms. I found out that she often felt yesterday's meal still "sitting there" and pointed to her chest.

The next day I was staring in awe at the film I had asked her surgeons to obtain. A film of her esophagus after she swallowed barium contrast. And the esophagus narrowed to a point, or the so-called "bird's beak" which is hallmark for a disease called Achalasia. A day later I had a tube placed from her nose into her stomach with pressure readings taken over an hour including when she swallowed. The manometric readings from that esophageal motility study confirmed the diagnosis.

Achalasia isn't so incredibly uncommon. I've diagnosed this 4 times this year and will see it again many times in my career. The treatments vary but involve opening the dysfunctional muscular sphincter at the bottom of the esophagus to allow the equally dysfunctional pipe-like esophagus to pass food by gravity, for the normal waves of contraction that aid food into the stomach are absent. But perhaps the most under appreciated side effect of achalasia, and one which makes this a sad story, is that of aspiration. Food stuck in the esophagus, and acidified liquids can reflux backwards, spill over the epiglottis into the trachea (the windpipe) and then move downward by gravity into the lungs. While the food itself usually doesn't present the biggest problem, the chemicals and acids which spill cause a condition called pneumonitis which, over time, can ruin perfectly good lungs.

This woman didn't have idiopathic anything. She had a longstanding condition in her esophagus which ruined her lungs. Three times a gastroenterologist performed an investigation with a camera (as I did the day after the diagnosis was confirmed), and three times he found nothing (as did I). In fact, Achalasia is not diagnosed by endoscopy. The tissue looks perfectly normal. The damage is at the level of nerves, and the dysfunction is best captured by imaging and manometry.

It is so easy, in medicine, to point a finger. We doctors love to talk about 20/20 hindsight. Coming in later in the game is always an advantage. Someone else's negative workup allows you not the stumble down the same pathway. But 3 tests? All the same test? This seemed quite odd.

What astounded me more, as I sat on her bed and watched a plane gain altitude over the city, was that she called her gastroenterologist yesterday and told him what had transpired- that this was Achalasia after all of these years, and that she was angry with him. He said that there was nothing we would be able to do. He told her this was something she would have to live with, and that ours was a wasted effort. When she told me this we both smiled. Because yesterday, after I was finished with the investigatory portion of my endoscopy, I injected botulinum toxin (botox) into the sphincter at the base of her esophagus through a special needle that fits into the channel of the scope. As a result, she enjoyed dinner last night for the first time in 5 years.

She will get a lung transplant. And before then she'll have a definitive esophageal surgery to cut the muscle holding that sphincter (botox only lasts a few months). And she will have new lungs that are spared the acid that ate her current ones. And then she can watch her kids grow up, and share a pizza with them, and share their laughter.

On her bed today, I had questions: What if this had been diagnosed 5 years ago? Who is that arrogant doctor (and in my field no less!)? Will she beat the odds and actually live more than 6-10 years after her operation? Is she better off knowing the diagnosis now? And knowing it was missed? Did I do her a service after all? Is there bliss in "idiopathic?" In ignorance? But I just sat there and shared a laugh with her as she enjoyed a pancake- neither of us taking a bite of it for granted.