Lectures

Punctuated Lives – Staying Healthy with Lynch Syndrome

This article is part of the series:

Every two years, a letter from the Gastroenterology unit drops into Maria’s mailbox. It is a call to attend her regular surveillance colonoscopy to check for potential precancerous polyps which are very likely to grow in Maria’s colon. Maria has Lynch Syndrome, an inherited genetic mutation in one of the mismatch repair genes (MLH1, MSH2, MSH6 and PMS2) that significantly increases her risk of colorectal cancer. Due to recent advances in predictive genetics and preventative medicine, regular surveillance colonoscopies offered at no cost by the Danish national healthcare system are shaping the lives of those living with a genetically determined prospect of disease and ultimately death. Currently, in the field of hereditary colorectal cancer in Denmark, more than 40,000 identified healthy individuals with an increased risk of cancer are enrolled in a surveillance program aimed at prevention or early detection, with numbers still growing. What this group of healthy “at elevated risk” people have in common is lifelong regular interaction with a healthcare system that has traditionally been geared towards treating those with chronic or acute illnesses (Heinsen et al. 2021). Maria is one of those people.

In her study of British families affected by the late-onset neuropsychiatric condition Huntington’s Disease (HD), Monica Konrad showed how one of the key social impacts of predictive genetic testing has been the creation of new categories of persons (Konrad 2005). Predictive genetic information creates knowledge about a person’s probable future health and a prognosis, which in effect makes people ill before showing symptoms of disease. This, she argues, “makes genetic prognostication itself a fundamentally chronic affair” (Konrad 2003: 27). But what happens to predictive genetic testing for persons who learn not so much that they will develop a devastating and debilitating disease as they grow older (as is the case with Huntington’s), but rather that they have an inherited pre-disposition for a preventable disease if medically surveilled? 

Routines, rituals and ruptures in the endoscopic ward

We first met Maria, a 49-year-old self-employed mother of two, at Hvidovre University Hospital’s endoscopic unit in Copenhagen in 2019, during our fieldwork on predictive medicine and hereditary colorectal cancer. With 46,000 outpatient visits and 10,000 endoscopies each year, it is the largest gastroenterology department in Denmark. Together with a nurse who was in charge of the examination room where Maria’s colonoscopy took place that day, we met Maria in the endoscopic unit’s large and brightly lit waiting room. She looked pale. On the walk down towards the wardrobe, a mandatory stop before entering the examination room, Maria said trembling “I hope it’s one of the good doctors and that I’ve cleansed well”. Her tension was palpable. We listened silently as the nurse and Maria exchanged words. Maria explained how she found it difficult to prepare for her colonoscopies. For a colonoscopy to be successful, the colon needs to be as clean as a whistle. If not, remaining feces can conceal polyps, which can be so small that only trained eyes can spot them, and the 5-to-6-foot-long flexible scope may not be able to pass through the colon. Recurrent purging of intestines is a prerequisite for a person with Lynch syndrome, at least if you adhere to the offer of regular surveillance. In Denmark, 75 percent of known Lynch syndrome carriers do so.  

Each time the letter with the call arrives, it comes with a box of powdered (and if you ask people with Lynch syndrome really foul-tasting) laxative. On the day before the planned colonoscopy, the concoction must be consumed with several litres of water added over a period of hours, in combination with abstinence from certain foods. “It’s just not nice when the letter arrives in your mailbox, because it reminds you”, we heard several persons living with Lynch syndrome say. It reminds people of both their status of being at elevated risk of colorectal cancer while also reactivating embodied memories of the discomfort and pain, albeit of varying degrees, associated with the regular colonoscopies, and, for some, the near-unbearable body work they must undertake to keep cancer at bay. “The examination itself is the worst. The last time, I really considered quitting. I thought, fuck it, let me just get cancer and get the surgery,” one woman told us. Maria vomits when trying to consume the mixture. Once, she had to have the mixture intravenously.

Dressed in a blue hospital gown, Maria entered the examination room where a surgeon and another nurse were present. The surgeon, stationed in a corner in front of a computer screen, was busy entering data from his prior patient into Endobasen Olympus, an electronic documentation system used in Denmark. Maria lay down on the examination table, while one of the nurses criss-crossed the room prepping the examination. Each of the colonoscopies we witnessed followed the same rhythm, style and choreography. One nurse was assigned ‘warm hands’ (varme hænder) tasks, meaning care for the patient during the examination; medicating, talking, calming, caressing, sedating. The second nurse oversees ‘cold tasks’ that included handling medical equipment, data registration, and biopsies. And finally, the doctor (or trained endoscopic nurse) focuses entirely on the colonoscopy itself, inserting the tube from the bottom to the top of the colon and back again, nipping off potentially precancerous polyps on the way, which are subsequently sent for analysis at a bioanalytical lab. ‘Pedagogical sedation’ is the preferred strategy to handle a person with Lynch syndrome’s anxiety. “It’s all about distraction”, as Signe, an endoscopic nurse told us. Talking with patients about everyday stuff, their work, family, what they plan to eat after the examination helps to lift the otherwise dense atmosphere, making patients converse, smile and giggle, at times interrupted by pangs of pain and discomfort as the tube inches through their intestines. Each examination is prepared in bright light, but as soon as the doctor initiates the endoscopic process, lights are dimmed and voices are lowered. These spatio-architectural rituals serve the purpose of bringing the colon and its potential growths (visible on a large television monitor) into sharp focus, but they also delineate a temporal structure, marking a before-under-and-after of each examination through which different modalities of care for the patient, and attention towards the colon itself, is structured. 

Maria was tangibly uneasy about her colonoscopy. “I’m really afraid of needles”, she said as the ‘warm hands’ nurse prepared a venous catheter to infuse sedatives if necessary. “I’ve had times where the doctor didn’t listen. It’s really painful for me, so I need you to go slowly”, Maria continued addressing the doctor directly who had now left his seat in the corner. “I’ll do my best to take good care of you,” he replied. The nurse approached us, whispering that in her opinion a patient like Maria should be put under complete sedation. The ‘cold tasks’ nurse dimmed the light in the room. Mechanistic hissing sounds settled in as the doctor began the colonoscopy. With 5 milligrams of benzodiapin and 5 milligrams of painkillers moving through her body, Maria seemed to have fallen into a deep sleep. She lay completely still on the table. A few minutes passed, until suddenly beeping sounds filled the room and the figures on the patient monitor turned red. “It looks like she’s not breathing”. The doctor stood still with the tube still in his hands, gazing stiffly at the monitor. The nurse pinched Maria’s arm to assess the depth of her sleep. “Give her some oxygen… Is she breathing?” the doctor asked. The nurse continued to pinch Maria’s arm, rocking her torso back and forth in gentle, steady but certain movements. ”Hey, you need to take a really deep breath, Maria.” Maria was back. Not completely awake, but brought back from what appeared to be a sleep so deep it was potentially life threatening. She started moaning. Moans turned to screams. She was apparently in heavy pain. The doctor tried to move forward through the twisting loops of her colon, but Maria’s agony intensified with each attempt. “We have to stop the examination,” the doctor said to Maria. “No, are you sure?” Maria groaned. The doctor attempted once more, but again had to halt when Maria’s pain became too much for her to lie still on the table. The examination ended. 

Maria’s surveillance colonoscopy stood out as one of the most intense we observed. In sharp contrast, several of the persons with Lynch syndrome who came in for their surveillance colonoscopy talked their way through, some without any sedatives. Like a walk in the park. Others were nervous and withdrawn and asked for as much sedation as possible. And, it is not all down to “different psychologies”. Some colons are ‘easy’, some are ‘difficult’, we were told. Colonoscopic complications can arise when either the physiology of bodies or patient mentalities resist. Whatever the personal circumstances of those who enrolled in Lynch syndrome surveillance, doctors and nurses have to perform these regular colonoscopies and provide the best possible care for each and every ‘pre-patient’ within a limited amount of time in a hospital setting where thousands of colonoscopies are performed every year.

Experimenting

A few weeks after her failed colonoscopy, Maria’s body posture was relaxed, her face sparkling with rosy cheeks, when we visited her in her spacious two-floor villa located in the outskirts of Copenhagen. Like meeting the same person for the first time twice. Warm tea, strawberries and chocolates were neatly lined up on the coffee table. As was the case with all of our informants, Lynch syndrome had run in her family for generations taking several of Maria’s near and distant relatives’ lives along the way. Maria had known about her genetically inherited risk for 15 years ever since her mother developed colorectal cancer when Maria was in her mid-30s. 

“I don’t drink the laxatives the hospital gives you, I just can’t. It makes me vomit. So, I’ve developed my own procedure. Two days before the colonoscopy, I get up, eat breakfast and stop eating. I drink, but I don’t eat. I fast for two days instead of one. To make sure I’ve cleansed well. The night before I begin fasting, I take Dulcolax (laxative to treat constipation). Two tablets. And then I go to the bathroom. I eat breakfast, but I don’t overeat. Some white bread or something, and then I stop eating. I drink ginger ale, ginger tea, emetic drinks of different sorts. The next day I don’t eat as well. In the evening I take Dulcolax once more. Before I go the bed, I take one Klyx. On the day of the colonoscopy, I take one Klyx in the morning and then I walk down to the train station and I’m completely exhausted. I go by train and bus to the hospital and I always get extremely nauseated. But yeah, I drink a lot. 4 liters.” 

Maria’s paleness and nausea on the day of the colonoscopy had been caused not by anxiety (as we had assumed) but by her tinkering with the cleansing regime. The hospital-ordered laxatives contain precisely measured levels of polysaccharides, magnesium salts and polyethylene glycols to keep the body in balance while fasting. Each time Maria goes for her surveillance colonoscopy, she intentionally brings her body into imbalance in order to increase the efficacy of her bowel cleansing. 

The promise of a disease-free future 

Considering the discomfort and risks associated with an invasive procedure such as a colonoscopy, not to mention the risks Maria takes when cleansing in her own way (which from a medical standpoint is considered unwise and potentially dangerous), one could ask why go through such surveillance routines over and over again? After all, it’s lifelong and Maria is healthy, or at least not yet ill. Unlike the genes that with certainty will cause neurogenerative damage in those predisposed to Huntington’s disease that Carlos Novas (2000), Monica Konrad (2005), Lotte Huniche (2009) have studied, the underlying gene mutations known as Lynch syndrome might never develop into cancer. One answer to this question could be that when you have knowledge of inherited elevated risk, not to act on it is considered irresponsible. As Mette Nordahl Svendsen has shown through her research amongst Danes seeking cancer genetic counselling and testing, knowing about genetic risk is a moral imperative in disease control (2005). And, indeed, persons who are ‘diagnosed’ with Lynch syndrome in Denmark are strongly encouraged and advised by their healthcare specialists to comply with the medical surveillance programme that is provided as part of tax-financed health care. But, genetic responsibility extends beyond mere knowledge, it also concerns the actions required to prevent disease from striking or at least to detect it as early as possible. Thus, another way to frame the answer is that against a backdrop of predisposed deaths dispersed through generations, doing what one can to prevent the past from repeating itself is considered innately meaningful. 

For Maria, experimenting with cleansing “her own way” allows her to lead a continued surveillance life in the near and distant future, which is a precondition for (her belief in) prevention of hereditary colorectal cancer. There is no question that the regular colonoscopies individuals with Lynch syndrome undergo stand out as rhythmic reminders of the cancer they must do uncomfortable bodily work to keep in check, making people live “two years at a time”, as one informant expressed it. At the same time, however, those who attend surveillance colonoscopies express gratitude that they live in a society that provides them with such an opportunity of effective prevention. One of our interviewees put it like this: “I’m just really happy that I have the possibility to be in a surveillance programme, and then, you know, I don’t really think about it other than when two years are up and I have to go for my next check-up”. The chronically ill and ‘genetically at risk’ share lifelong, regular interaction with the healthcare system in the form of medical check-ups, yet leading a ‘surveillance life’ forms around systematic efforts to prevent and detect rather than treat disease. Thus, the lives of people at elevated risk are turned into a chronic affair not so much because they prognosticate an imminent hereditary disease or require the managing of a disease that has already manifested, rather they lead lives punctuated by regular surveillance as they adhere to a biomedical regime of preventative medicine in order to stay healthy (see also Svensson 2021)An endeavor that is ambiguously both agonized over and appreciated. 


Laura Louise Heinsen is a medical anthropologist who has specialized within the research field of selective reproduction, predictive genetics, and preventive medicine in Denmark. Heinsen holds a master’s degree from the Department of Anthropology at the University of Copenhagen. She worked for two years as research assistant at the ERC-funded research project Vitality of Disease, Quality of Life in the Making at the University of Copenhagen. Currently, Heinsen is conducting a PhD project at the Department of Culture and Learning at Aalborg University on second-trimester selective abortion in Denmark, focusing on how abortion is legitimated, authorized and effectuated in the nexus of biomedicine, law and the private.

Helle Vendel Petersen is Senior Researcher at the Clinical Research Centre, Amager and Hvidovre Hospital where she works as part of the HNPCC (Hereditary nonpolyposis colorectal cancer). She holds a PhD from the Faculty of Medical Sciences, Lund University in Sweden and has published widely on patient communication and life course perspectives on hereditary colorectal cancer in Denmark.

Ayo Wahlberg is Professor MSO at the Department of Anthropology, University of Copenhagen. Working broadly within the field of social studies of (bio)medicine, his research has focused on traditional herbal medicine (in Vietnam and the United Kingdom), reproductive and genetic technologies (in China and Denmark) as well as health metrics (in clinical trials and global health). In his current project “The Vitality of Disease – Quality of Life in the Making”, funded by the European Research Council (2015-2021), a team of ethnographers are exploring how chronic living forms the everyday lives of millions of people who live with (chronic) conditions throughout the world and has emerged as a therapeutic site. He is the author of Good Quality: the Routinization of Sperm Banking in China (University of California Press), co-editor of Selective Reproduction in the 21st Century (Palgrave MacMillan) co-editor of Southern Medicine for Southern People: Vietnamese Medicine in the Making (Cambridge Scholars Publishing) and editor at the interdisciplinary journal BioSocieties (Palgrave Macmillan).

Chronic living: ethnographic explorations of daily lives swayed by (multiple) medical conditions” is a series being published alongside the Chronic Living conference, as part of the VITAL project. The series is edited by Ayo Wahlberg, Jieun Lee, Anna Mann, Arseli Dokumaci, Natasja Kingod, Marie Kofod Svensson and Laura Heinsen.


Works cited

Huniche, L. (2009). Existential concerns in families with Huntington’s disease: Towards an understanding of the person in social practice. Theory & Psychology, 19(1), 93-113.

Konrad, M. 2003. Predictive genetic testing and the making of the pre-symptomatic person: prognostic moralities amongst Huntington’s-affected families. Anthropology & Medicine, 10(1), 23-49.

Konrad, M. 2005. Narrating the New Predictive Genetics. Ethics, ethnography, science.Cambridge University Press.

Novas, C., & Rose, N. (2000). Genetic risk and the birth of the somatic individual. Economy and society, 29(4), 485-513.

Svendsen, M. N. 2005. Pursuing Knowledge about a Genetic Risk of Cancer. In V. Steffen, R. Jenkins, & H. Jessen (Eds.), Managing Uncertainty. Ethnographic Studies of Illness, Risk and the Struggle for Control. Copenhagen: Museum Tusculanum.

Svensson, M. 2021. Prognostic Calibrations in Outpatient Encounters for Families Living with Congenital Heart Defects in Denmark. Medicine Anthropology Theory 8(1): in press


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