The Awe of BRCA

Awe: the word has been pasteurized, connotized almost beyond recognition. But I suppose that’s what happens to all really powerful words. There’s a life-span to language; a generation if you’re lucky; a year if social media gets hold of it –likes it… But I think the ship of awe and all of its elegance went down quickly -even before Facebook or Twitter could sink it. It’s a shame because I am sometimes filled with it.

Different things inspire it in me; there’s no formula, no recipe for the appeal. I am sometimes simply stopped in my tracks, occasionally accorded an audience with grandeur. Majesty. Awe: the ineffable sublimated and instilled wordlessly into my head.

Most recently it was occasioned by genetics -unsurpisingly, because I understand so little of it nowadays. Since the genetic code was cracked and genes in all their undress were unfurled from where they ruled unseen in their closet, I have been a stranger in an even stranger land. I sometimes feel as a child must, confronted with an explanation that has not lost any of its initial magic. Any of its mystery…

And it’s not merely the unravelling of the genetic puzzle that intrigues me. I am scarcely moved by the knowledge -no, not the knowledge, the words- that on the short arm of chromosome 3, position 21 (have I got that right?), there exists a gene that makes a chemokine (a what?) that has an important role in the resistance to infection. I suppose I should care more, but I don’t.

The gene that has captured my interest is the BRCA gene. ‘BRCA proteins are required for maintenance of chromosomal stability in mammalian cells and function in the biological response to DNA damage’ -that from the Journal of Cell Science. In other words, they make sure that the DNA is okay, and deal with it if it is not… They repair damage and keep the cell growing normally. They suppress tumours; mutate the genes -cripple them- and the oversight is lost.

That much I knew, but what intrigued me was that the BRCA genes also occur in plants. They evolved about 1.5 billion years ago in whatever single-celled creature that was the common evolutionary ancestor to both animals and plants. The fact that these genes also exist in plants (most studied in a small flowering plant called arabidopsis, because in 1990 it was chosen by the National Science Foundation as the first plant that would have its genome sequenced) suggests they have an important and enduring function throughout the phyla and kingdoms. Plants, too, need to manage what happens to their DNA: they are rooted to a spot and can’t avoid recurring environmental stress factors that might damage it. As an example, some mutations in the arabidopsis BRCA allow certain cells to divide uncontrollably making the plant very sensitive to various forms of radiation. Sound familiar..?

Not all of the BRCA gene is the same in different organisms, of course: different domains, or portions, with different functions are preserved that seem to have an evolutionary importance relevent to each entity. Why re-invent the wheel? Nature fiddles with what it already has -what it knows. That mutations in this same gene should have such important effects on breasts and ovaries in humans is interesting, to say the least. All organs have DNA that is responsible for their growth and development; all DNA needs surveillance and repair; all organs have a cancer potential…  So was there a common ancestor somewhere whose BRCAs first assumed uber guardianship of breasts? Whose unintended mutations engendered these hereditary risks -a family, an individual..? Presumably stuff has to start somewhere.

And although arabidopsis doesn’t have analogous organs to humans, similar BRCA mutations do not seem to be as lethal, so I suspect that studying them may lead to some important insights. Maybe they already have: I can barely understand the way the studies are worded and find myself perusing only the Introduction and then skipping past the Results section to Conclusions where the authors discuss whatever ramifications they feel obtain from the experiment. I still read through a glass, darkly.

But somehow, the knowledge that we are in a sense all part of the same organism is epiphanous. Humbling… As Shakespeare (in Troilus and Cressida) has Ulysses say: “One touch of nature makes the whole world kin.”

Meanings

Can we ever understand each other? Know what is being asked of us? It’s not just a medical problem; it’s universal, I suspect. And it’s one that entails far more than simply comprehending the meaning of a word in both its denotative (definitional) as well as its connotative (secondary, or evocative) usage. It involves apprehending -truly appreciating – whatever is intended in the communication.

In a sense it is often a relational concept: we are linked in a sort of symbiosis and inherent in that is the empathetic interpretation of what is being conveyed. Friends potentially have this: Don’t listen to what I say; hear what I mean. We all hope for this, I think -especially when things are hard to express, when words fail, as it were. When we need the other person to grasp something we cannot adequately articulate, we are at a loss -or perhaps more accurately, at a disadvantage- in terms of receiving their help or advice. Words, large or small, can be impediments.

And this is particularly salient in medical encounters where both unfamiliarity with appropriate terminology as well, perhaps, as embarrassment, conspire to camouflage the reason for the visit. Where you say pain, but really mean cramp, or perhaps irregular -referring to your menses, for example- when you actually mean totally unpredictable, or maybe that you’ve even stopped trying to keep track of them… Where cancer could mean something you think your grandmother had -but nobody would talk about it with you- or that in fact it’s what you think you have but are afraid to verbalize it. Heavy is what your periods are not -even though you are anaemic- because they’ve always been like that, and so were your mother’s: They are normal, doctor

I realize this is not usually a major obstacle to doctor-patient relationships, because over time doctors learn to listen to what is not being said; the encounter is frequently more valuable than the words in it -no matter how descriptive. It is also why it is often so difficult to address problems over the phone.

Through the years, I have struck by the need not only to be a good listener, but a good and careful observer. There is as much meaning in silence as in conversation; as much information in examination as description. Words are susceptible to challenge, or misinterpretation; unimportant ones can be uttered with emphasis, significant ones mumbled sotto voce. Comfort level is privileged and not summonable at will. Words escape from the top of the tongue, or are inadvertently trapped behind the teeth; meaning is sometimes a prisoner to safety -be it cultural, or personal. And it can be as unpredictable as the weather; as fickle as a mood…

So then, how can we understand each other -especially in moments of crisis? How can we ensure that others know what we intend -what we need to convey? Is it as simple as choosing the right words, the right syntax? Is it a vocabulary issue, or something more complex? More profound? From the doctor point of view, I would argue for the latter; I think that the essence that underscores all communication, that underlies all meaning, is engagement: being present in the situation at hand; imbedded in the message -both obvious and covert, intended and accidental; alert to context; aware of the unspoken. Words, after all is said, are just drawings in sound; to understand, to really comprehend, we must listen with more than our ears, see with more than our eyes. To listen fully, we must hear.

It is not an arcane prescription, not something requiring years of training; it is what we all attempt when we truly care; it is what is missing when we do not… And absence of the effort is something Shakespeare noticed so many years ago (Henry IV part II):

It is the disease of not listening,
the malady of not marking,
that I am troubled withal.

The Stand

“So, do you have a stand on that, then?” She was smartly dressed in jeans and what looked to be an expensive white silk blouse and divided her eyes between my face and a little notebook in her lap. Whenever I said something she liked, she would scribble furiously and noisily in it. Otherwise it was silent -a non-attributable form of media manipulation? The noise amused me more than anything.

“I thought we’d already established that I like to hear what the patient is saying and then try to diagnose…” -I thought I’d sprinkle a few medical terms at her- “… what it is that she is trying to tell me.” I stared at her silent notebook and then added: “There’s more to conversation than words.” Her face took on the look of a dog that hears a noise it can’t locate. I could tell I was losing her. “You know: tone of voice, cadence of speech, body language…”

Her expression softened, and there were a few cursory scratches of pencil on paper. “A bit wish-washy. I’m trying to get at what you actually believe.” She said the word as if there were discrepancies in my answers so far.

“I believe…” –I thought I’d italicize the word as well- “…that it’s important to understand what my patient believes -read between her lines, if you will.”

“Her lines?”

Well, that metaphor was lost on her. “The lines, then.” Silence: pen gripped tightly but motionless, eyes fixed, breath held. More was expected: an addendum. “I mean that sometimes a person says one thing , but actually means something else that they’re afraid to say… Or maybe haven’t really decided what they think.”

Her brow crinkled -rather cute,  I thought. “But you’re the doctor! Wouldn’t you have an opinion on what she was telling you?”

I took a deep breath but tried to disguise it in case that would somehow get translated into pencil scratches. “If I knew what she was telling me, I suppose it might help me to direct my subsequent questions more appropriately…”

“But,” she interrupted, pencil at the ready, “let’s say the woman has already come in to see you with… a situation…” I suspect she thought she was being sensitive with that choice of words. Politically neutral. “Wouldn’t that in itself give you the information you need?”

I shifted into my bland I’m-not-sure-what-you-mean mode that I often find helpful in the office. “Information, yes; solution, no.”

“But…”

I’m still not sure why I had agree to be interviewed. Not really. Superficially I suppose it was because one of my colleagues was doing abortions and had a recent complication with the procedure -through no fault of his own, I might add. The woman had tried to self-induce a termination of her pregnancy, failed, become seriously infected, and then sought medical help from my colleague. He performed his job admirably and saved her life through his own skill and knowledge, but someone had leaked the ‘complication’ to the press and the whole event had been misconstrued. So perhaps I’d wanted to set things straight. But that’s not what this journalist saw as her mission. I suspect she actually wanted to know the opinion of a gynaecologist who worked in an ostensibly Catholic hospital.

I’d tried to dissuade her from that approach at the start, but to no avail. Now I was becoming a little annoyed at her persistence. But if the truth be recognized, it was her agenda that bothered me the most. I put on my best doctor smile and sat back in my chair. “Perhaps it might be a good time for you to be more specific. What is the question that you are leading up to?” Somewhere inside I blushed at my ending the sentence with a preposition and wondered if that might be one of the few sentences that she would quote in her article.

She gripped the pencil tightly; I could see the bones in her hand standing at attention just under her skin. “Doctor, you work at a Catholic hospital, do you not?” I nodded, but it was one of her conditions for the interview in the first place. “What do you think of abortions, then?”

My smile continued without interruption. I knew that was what she wanted, and had expected it at the beginning. And yet the question, at least for me, was irrelevant: where I work does not determine what I think. And what I think does not interfere with how I manage a patient with a problem. The journalist was staring at me, pencil poised, a subsequent question rolling around in her mouth just waiting for my answer. “Would you care to contextualize that?” I said, knowing full well she would have no idea what I meant.

“Pardon me?”

I crossed my arms and leaned forward on the desk that I had been careful to sit behind at the start of the interview. “You asked me what I thought of abortion. You might as well have asked me what I thought of fibroids…”

“I… I don’t see…”

“No, you don’t do you? Well let me put things into context for you, then. Abortions? I wish they were unnecessary. But then I also wish that people only became pregnant when they chose. And if they chose. In life, things happen, and not always for the best. I don’t much approve of smoking either, but that doesn’t mean that if a person were to become ill because they smoked I wouldn’t try my best to help them. Or in my own field, if they were to develop chlamydia or gonorrhea that I wouldn’t help them because they hadn’t used a condom, or maybe adhered to my own person moral preferences.

“Am I an ethical relativist? You might better ask me if I am a doctor. If you were to walk through that door looking for help, my first question would not be whether we had the same belief systems or the same cultural norms. No, it would be what can I do to help you? In other words, how are you suffering? And if I asked you about your sexual practices, or preferences it would not be to criticize, but to help in the diagnosis and treatment of the condition for which you had sought my help.”

“Are you Pro-Choice then?” I could see the words forming on her lips before she uttered them.

“We all have choices and I respect that. It’s not for me to interfere; I am not the person who has to make them. But I prefer to think of myself as Pro-Help… Perhaps I am the sounding board that helps you to make the Choice for yourself.”

With that she tucked her pencil and the notebook in a little shoulder bag and stood up. She sighed deeply and demonstrably. I had wasted fifteen or twenty minutes of her time. Now she was going to have to find another doctor to interview, I supposed. I stood up and extended my hand to shake, but she took it somewhat reluctantly, I think. “I’m sorry you decided not to commit yourself, doctor.”

I’m assuming it was a subtle put-down, but I allowed my smile to dance a moment longer on my face until I tucked it carefully away. “Actually, I think I did,” I said, and ushered her out of the room.

Understanding Risk

There are more things in heaven and earth, Horatio, than are dreamt of in your philosophy. This quote from Hamlet has always stuck in my memory; it reminds me to be humble, especially in the face of the unknown. Uncertainty has always been anathema to most of us. We need explanations and we crave stability; anything falling short of those expectations leaves us feeling anxious. Suspicious. It’s why we have experts, after all.

The recent verdict of an Italian court that a group of scientists failed to adequately warn the citizens of L’Aquila of a deadly earthquake in 2009 is perhaps a case in point. That guilt could be assigned because the risk, although quantifiable, could not be accurately assimilated, means to me that it was meant as an indictment of Science and its methods. A vilification, really. That statistics are misunderstood is probably the explanation.

I don’t pretend to understand them myself, so I can see why things seem so mysterious. Saying there’s a 99% chance that something won’t happen this year, or this time, or in June, for example, means to most of us that it won’t happen. We’re willing to give weather forecasters some leeway, perhaps, but not experts that are supposed to help us avoid tragedy. After all, it’s their field; they’re supposed to know something about it…

Medicine is not exempt from this expectation either. Patients ask me what possible complications might happen with or after a particular operation -a simple question. I should know the answer. But the answer really depends on how it’s understood, doesn’t it? For example, if I state that there is a 1% chance, say, of needing a blood transfusion after a Caesarian section, that might be heard as “Really unlikely! You won’t need one unless things go very wrong.” But it could equally be heard as “Caesarian sections should not be undertaken lightly and things can go wrong.” Both are correct, and yet we hear what we need to hear. What we want to hear.

How unlikely should a risk be before it is not mentioned? Or should every risk be mentioned? Is it really helpful to tell a woman in labour with a baby in distress that there is a risk she could die during a Caesarian section, but that the baby could die if the surgery is not performed? Or that there is a -what?- small chance that she could end up with permanent paralysis if she has an epidural inserted to ease the pain of her labour? I agree that discussion of risks is important, of course, but I’m just wondering at what level it might become counter productive. Think of a map of a shoreline of a country. On a small scale it serves the purpose of indicating where the country lies in relation to its neighbours. A larger scale identifies harbours or perhaps small outcrops of land. At some stage as we increase the scale, however, it becomes unusable: boulders at the foot of trees growing at the edge appear, small indentations worn away by waves emerge; what appeared to be a smooth shoreline now seems to be a random squiggle of smaller and smaller indentations. They’re all part of the shoreline, of course, but the inclusion of more and more details obscures the original intent of the map.

I sympathize with the Italian scientists. Detailed description of the risks of each mode of delivery of a baby, for example, inevitably leads to closed loops. If I describe the possibility of maternal perineal injury from a vaginal birth (incontinence, painful scarring, infection -the list is interminable, depending on how minor the trauma)- I am then forced to describe the possible complications of the alternative: Caesarian Section. And depending on the level of seriousness of complications that is demanded, I am forced to admit that they are both dangerous procedures with unpredictable consequences. Now what? Select from the possible risks and consequences using the very statistics that were probably the source of the confusion in the first place?

I am and have always been in favour of full disclosure of risks and consequences. The equation of hazards, as it were, needs to be solved. And yet what is it that the patient is really asking? What were the citizens of L’Aquila asking? Translation is required: explanation in context. In the case of the patient asking whether or not to have an elective Caesarian, the answer may well be an exploration of why they needed to ask in the first place. Are they afraid of labour? Of pain? Of severe and irreparable injury?Addressing those issues is likely to be a more fruitful first step on the journey, than taking the one of playing with figures.

And in terms of the earthquake tragedy? How to negotiate that equation? I don’t know; I suppose it all comes down to meaningful, understandable and contextual communication. Perspective -both that of the public and the science. Respect.

Early Morning Musings

There are times -often early in the morning after just getting to bed and then being awakened again to go to the Operating Room for some emergency, or more commonly, the Case Room for a delivery- when I wonder why I chose the field I did. After all, I could have gone into Pathology where microscopes never phone, or maybe Dermatology where a rash can usually wait until daylight to be evaluated. Things seem so much worse in the middle of the night.

But then dawn rolls around and things don’t seem so bad. I reconsider and re-evaluate the malevolence of the night and in the new light, I find I have new thoughts. Fresh thoughts. Happy thoughts, though seen through the aching of fatigue and the haze of bleary, reddened eyes. I am, I realize again and again, a Morning person. I relish the colours that spill over the sky from the newly born sun; I look forward to the world self-lit. I am an unabashed pantheist with respect to the freshly washed day. And I realize anew what a privileged life I live and what I have still to learn.

There are daily happenings I struggle to express -little things perhaps, but deeply meaningful in their context. Profound, even. Like the delivery of a child in the wee small hours to a woman with a major cardiac anomaly -one that may have ended in death in a setting less prepared than ours. My role as an accoucheur was admittedly minor -a technician really- but still, I was caught up in the moment. The woman smiled so loudly when I handed her the healthy infant that I just had to say to the beaming husband that he really had a special wife. There was a language barrier to be sure, but he shook my hand, looked me in the eye and said “Of course she’s special!” as if it was so obvious it didn’t even need to be said. I had to turn away so he wouldn’t see the little tear forming in my eye.

Or the time, a world away in Newfoundland, when I tried to bring some Western Canadian Wisdom to a staunchly self-reliant culture. I was working in the small little village of St.Anthony at the Grenfell Mission -a mission dedicated to ‘improving the health, education, and social welfare of people in coastal Labrador and northern Newfoundland’. I was a freshly minted specialist and too full of training to be mindful of the situation. I’d just seen a middle-aged woman with extremely heavy and frequent menses. She’d come to see me along with her obviously concerned husband, a local fisherman. I did what I had been taught in the big city schools and proceeded to discuss the differential diagnosis with them and the various treatment options available. After what must have been a lengthy monologue I asked them what option they preferred. I remember they both looked at each other for the longest time, and then at me. “Well, the way I figures it,” the husband said glancing at his wife, “When my family’s hungry, I don’t ask them fish in my boat what they wants. I jes do what I needs to do, boy. So do what you needs to do; fix my wife!”

Sometimes a difficult decision has to be made, and although the situation mandates explaining the reasons to the patient and their loved ones, and their opinions canvassed, in the final analysis they expect me to make a decision in their best interest. They have no way of knowing all the background that goes into making the best decision; ultimately and for better or worse, the buck, the expert opinion, really does stop with me -and the treatment if they agree. It’s a weighty thing to have to be a final arbiter; after all, they may disagree and seek a second opinion. But ultimately, a decision must be made by somebody. And that’s what they want: however onerous the responsibility, most are seeking someone to take charge of the situation. To do something.

But you know, it’s not all death and taxes. There are some truly delightful moments, even in the dead of night. I had been following a friendly couple through their labour and in the course of my visits as the night wore on, I discovered that he was a violist in the Symphony Orchestra. Although they were playing that evening, he didn’t want to take the chance of missing the delivery of his first and anxiously awaited child. But in case she delivered early, he’d brought his viola and it sat in its little black shell in the corner. He never so much as glanced at it as far as I could tell. Unfortunately, labour did not progress as we had hoped and so somewhere around three A.M. I decided she needed a Caesarian Section. They were both disappointed, of course -so was I, in fact- but were both reassured by the ability of being together in the OR. And yet as I checked to make sure her epidural was working and then made the skin incision, I wondered aloud where he was. It had seemed so important to him to be there with her. I asked her about it. “Oh, don’t worry about him,” she said from behind the drapes. “He’s got it all planned.”

I could see the anaesthesiologist grinning behind his mask: he was obviously in on a surprise. For me, the only surprises so far were the father’s absence, and the fact that the doors to the OR were wide open -something that would never be allowed during the busy daytime hours. So I continued with the operation and in a few minutes extracted a big, healthy and screaming baby. Suddenly, echoing along the empty corridor outside I could hear a viola playing Happy Birthday. You can’t wipe your eyes when you are scrubbed -a nurse had to do it. But only after she’d wiped her own. I still can’t listen to the tune without a sigh and a deep breath.

My field is hard and at times difficult, but there are moments… Many of them, in fact.

Health

Do we expect too much Health? Or perhaps less controversially, do we expect too much of Health? Are our expectations realistic or even attainable? Do we really know what Health is -or for that matter, is not? It’s an important point and one that should not be dismissed as mere academic quibbling. Perhaps, to paraphrase St. Thomas Aquinas, we all know what Health is until we are asked to define it.

Should we, for example, define it as an absence -an absence of illness, for example? Or maybe suffering? If that sounds too tautological, how about defining it as something positive: say the presence of well-being or -god forbid we stray into this- even happiness, contentment, or comfort?

But unfortunately, the concept of Health has strayed for a lot of us. In many respects, we equate good health with the absence of discomfort in our bodies – and for some, any discomfort. That we should have to think about our bodies in any way other than that they are ready and able to perform -or at the very least, potentially capable- is disconcerting and disappointing: unhealthy. That there should exist constraints such as pain or weakness may therefore be construed as unacceptable.

An extreme view? Well, consider a patient I saw for consultation recently. She had come in complaining of fatigue before her menses -a symptom certainly worthy of investigation, I think. Anemia, some form of menstrual dysphoria, or possibly even stress came to mind immediately as possible villains, but I was not unmindful of other, more serious conditions for which fatigue could be a herald. So, after taking what I hoped was a thorough history and completing a detailed physical examination to provide me with further clues, we went back into my office so we could discuss things.

“So what do you think, doctor?” she asked, her eyes locked on mine.

“Well, fortunately the physical examination was reassuring – I couldn’t find anything wrong…”

“But there must be something wrong, doctor. Something has to be causing the fatigue!”

I thought about it for a moment. “You say your periods are not particularly heavy; they’re not painful; they’re on time each month… You’ve always felt tired before your menses, and you feel well otherwise…”

“But doctor,” she almost shouted at me, “It’s not healthy to be tired before your periods. None of my girlfriends are…”

I started to write something on a form and looked up at her. “So, I’m going to order some blood tests and…”

She rolled her eyes and straightened up in her chair. “My GP has been ordering blood tests for years now and they never show anything. I want to know what you’re going to do about it.”

I could tell she was about to leave. “What are you afraid might be going on with your body?” I asked, thinking she might have some fear of cancer, or disease in her mind. But there was no family history of any cancers or heart disease and they were all still living, well into their late sixties. And for her, there had been no personal, sexual, or relationship problems that I had been able to elicit in taking her history. I was truly perplexed.

“That’s what I came to you to find out, doctor,” she answered with a stare, almost spitting out the word ‘doctor’. “You doctors are so busy trying to cure disease, you have no idea what Health is.” And then she walked out.

And you know, maybe she was right. Maybe we do define Health in the negative: an absence of things that shouldn’t be there. Or even use a ‘Be thankful it’s not worse’ approach. But I’m not sure she’s on the right track either. Surely Health is a more relative, a more consequential construct. Maybe it’s simply the condition that allows us the freedom not to think about it, worry about it. Maybe it’s neither a positive nor a negative concept. It’s something that’s there only when we don’t question it -something that, if it were not there, would have consequences.

But more than that, it must be a relative condition as well. If you break a leg and then are eventually able to walk again, albeit with a limp, you are probably healthy even though things are not like they used to be. So Health is not necessarily an absolute phenomenon either -something that withstands comparisons with others.

Clearly there are subjective and objective components to consider, and neither have an unassailable priority. Health is what we want it to be, and that’s going to vary depending on who’s considering it. We may never come to consensus. And yet I think there is considerable merit in trying anyway -attempting to look at it from both perspectives at the same time. Health is surely the ability to carry on with our lives with minimal impediments, minimal distress, and minimal need to wonder whether we can.

Minimal is approximate as well as contingent of course, but it does not mean zero.