Tag Archives: vexing questions

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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.”

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Sex Selection… or Any Selection

Another day, another march. This time it was the March for Life in Ottawa where the usual Pro-Life rhetoric was rebranded as being against sex-selection abortions. A worthy cause, for sure, and probably more universally palatable than condemning all abortions -whether done for medical, genetic, or even social reasons- as they have in the past. And by aligning themselves with the Feminist movement -protecting female fetuses and ‘more progressive human rights movements’ as the news media report it- they are no doubt hoping to appeal to that segment of the public that has hitherto merely watched from the sidelines.

As a member of that Public for many years now, I am intrigued to say the least. I am -and remain- firmly pro-choice, and yet I cannot deny my concern about sex selection. Quite apart from any argument about the sanctity of life or the morality of abortion, sex selection seems a self-defeating concept. I don’t wish to state the obvious here: like the huge loss of potential, the necessity of a female perspective to balance that of -what?- Testosterone? Or even the more obvious one: who would have the next generation’s children if there were no women? I just think it is inappropriate and short sighted to select on the basis of gender. It simply does not make any sense to me; it wouldn’t in a male-dominated society either: why would they want even more competition..?

I realize these are rather superficial observations on a topic that deserves a much deeper analysis, but I am struck by the emphasis in all this protestation on what we do not have in common. It is perhaps one way to capture attention and engender Media headlines but I would submit that confrontation usually entrenches positions more solidly. If nothing else, it defines an us and a them –a line to cross. It necessitates a backing down by one side -a loss of face, if you will- before there is a victory. And indeed, even to see it as a victory rather than a change is to diminish the other side and those that were adherents. In a way, it is to colonize that other world.

Drawing attention to a cause is one thing; convincing and educating an otherwise indifferent opponent is another. I think that all too often, the terms of battle are such that winning means incorporation: absorption of the entire spectrum of views and opinions of the successful side, and denigration -or at least abandonment- of those of the opposition. Colonization by default, if you will. It’s all politics: you have to convince the Public before you legislate. No smoke-and-mirrors. If there is an imposed settlement, rather than one achieved by both enlightenment and then consensus, it is a short term gain and one that will likely be resisted and maybe even eventually overturned again.

Even my dim recollections of History attest to the wisdom of compromise after conquest: the Roman empire was stabilized over the years almost as much by the accretion of foreign customs and religions as by the continued imposition of force.

I’m not trying to assert that obtaining such important and inalienable goals like Women’s Rights -or Human Rights- are somehow akin to foreign conquests; that we must always be satisfied with compromise. That we must always and forever sacrifice some issues to achieve others. But let’s face it, there truly is a wedge effect: achieve one thing and it often makes it easier to move on to the next on the list. I suspect that those gender selection protesters in Ottawa are well acquainted with that possibility.

But you know, even if it stops somewhere -as it always must in a diverse, multicultural and multifaith society like ours- it is an accomplishment. A blend of opinion, a mixture of viewpoints is ultimately to everybody’s advantage: no one will accept everything -our society is simply too heterogeneous to be of one mind. And ultimately, hopefully -probably, even- in the fullness of time, we and even our presently-held viewpoints might become different shades -ripples- in the melange that bathes us all.

If I may be allowed to cut-and paste from Shakespeare (Antonio in The Tempest): We all were sea-swallow’d, though some cast again (And by that destiny) to perform an act Wherof what’s past is prologue. We must resist the things we cannot abide and advocate for change. But whether, as things progress, we still feel the same or even settle on a middle ground, the expression of the opinion is what is important. A Society grows by increments; it is a work in progress -never finished, never complete. Nor are we, the Public, meant to be displayed for all time in a stone carved years before.

As with Evolution, whatever happens can only be judged in context and we -and even our opinions- in the larger scheme of things, are contingent…

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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.

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Victim

One of the things about illness is that it seems unfair -especially if it involves pain or limitation. To some degree, I suspect we all give in to self-pity in the throes of the process; maybe it’s a coping mechanism: a world view that allows us center stage for a while, an excuse to treat ourselves to some unaccustomed luxury. And why not? It’s only a temporary aberration, limited not only in duration, but in magnitude as well. Tomorrow will undoubtedly be better – the flu will have diminished, the sprain begun to heal. Reality -Life- will peek around the corner and beckon us.

But suppose it’s not; suppose its the same -or worse? Suppose the pain and debility persist and we find ourselves powerless in the grip of something we cannot understand, let alone control? What then? What if you seek help and are told there’s nothing to be done, or that the treatment, even if successful, will come at a once-unacceptable price? At what point do you become someone else? Something else? At what point do you somehow become a victim –someone demeaned? Disempowered? At what point, in other words, do you give up? Assign blame -or assume guilt?

These are vexing questions to which I have no clever answers. But they are problems -dilemmas- that we all encounter as we travel through our days. Certainly the chronicity of pain is a problem in gynaecology. A problem in endometriosis in particular. Perhaps in some future blog I will discuss the condition more fully, but for now suffice it to say endometriosis has the potential for becoming a chronic source of on-going pain with treatment regimes that might include surgery and affect fertility. It is surrounded by myth and misinformation that adds to the burden; it has variable clinical presentations making diagnosis or even suspicion difficult. It can be over-diagnosed on the basis of inadequately investigated symptoms carrying with it the inevitable worry and concern about the future. It can be under-diagnosed leading to multiple unsuccessful treatments and distrust of the medical establishment and their lack of effective medication -a gold mine for alternative therapies.

All understandable I suppose, and yet treated or untreated, I have concerns for the person behind all this -the person experiencing the pain, the person who is experiencing this by herself, as we all must experience pain. I remember an ad in a medical journal years ago. It was an advertisement for a medication for endometriosis and it was a picture of a beautiful woman in an alluring nightie curled up in the fetal position on a rumpled bed. The caption read: “Trapped in her own body!” I was sufficiently disturbed by it to fire off a letter to the company. What it had assumed -indeed encouraged everyone to think- was that she was a victim, someone on whom a punishment, or at the very least an unfair condition, had been imposed.

Unfair? Of course it is unfair -but the word, the description, is inapplicable, really. Pain, diseases, injuries are not judgeable as fair or otherwise. Some are perhaps preventable, some avoidable, all undesirable but unfair..? I suppose I take issue more with the powerlessness of the woman implied in the ad, though. The message is to surrender, I think, like in one of those police shows where the criminal is surrounded with no chance of escape. For him, we are led to believe, the chances of anything he does that might result in his freedom are non-existent. He must give up, not only his freedom and perhaps how he would like to see his life unfold, but also hope.

The analogy is wearing thin here, for sure, but I’d like to think that hope is not what that woman in the ad has lost, that she does not think of herself as merely an undefended receptacle for pain, a defenseless body being assaulted and beaten on a bed somewhere. I’d like to think that she still sees herself as a person, a subject. Not an object: a thing acted upon, something incapable of acting on its own behalf -powerless. I realize that I say this from the  safety of my own health, as an unexperiencing voyager upon the surface of someone else’s disease. And yet despite the distance imposed I can still feel the suffering, however dilute. I can still encourage her to take some control, if only of very little. Any control, any sense of being able to influence direction is important. Even if the outcome, the destination, is unknown, walking along a path wherever it leads, is better than staying lost. It is hope renewed. It is the first step to recovery.