When I was a kid in central Norway, my grandma would go to community fundraisers and buy lottery tickets for everyone in the family. Far more often than chance dictated, the winning token would have my name on it. She’d laugh when she handed me the prize, usually a fruit basket or some hand-knit oven mitts, and say: “You’re a lucky one!”
Being told that as a child, over and over, stays with you. I’ve always thought of myself as lucky, and mostly things have worked out for me: I was raised by nice parents, we had enough money, I like my work, I have good friends, I’ve been healthy. I tended to draw a winning ticket.
But last summer, my doctors tossed a coin — 50-50 — and I lost spectacularly: I learned that I’ve inherited a genetic mutation that makes me much more likely to develop cancer. I tested positive for Lynch syndrome, a name for what happens when there’s a fault in one of the genes that’s supposed to fix DNA-copying errors during cell division. If the body can’t compensate for those minor mistakes, they can accumulate and cause cancer. Now I know that inside my own body, those little errors could be piling up into something deadly. And a year and a half later, I’m still wondering: What do you do with information like this?
The main risk with Lynch syndrome is very sexy: colon cancer. Between 10% and 80% of everyone diagnosed with this condition gets colon cancer in their lifetime, depending on exactly which mutated gene they’re carrying — for most, the risk is somewhere in the middle. For the average person without Lynch, that risk is 7%. Then there’s the prospect of endometrial cancer, which is significantly more likely for women with Lynch, and a bunch of smaller (but not insignificant) risks of other cancers: stomach, kidney, pancreas, ovaries, bladder, skin, brain, bile duct. I don’t even know where my bile duct is.
When you test positive for a genetic condition like this, you’re enrolled in screening programs aimed at catching this crap before it gets out of hand. But there’s no clear solution to my immediate problem: How am I supposed to fit this information into the rest of my life?
I spent a full week after the diagnosis feeling like my body didn’t quite belong to me. I’d stare at my hands and wonder whose they were. Where had my body gone? This one was a mistake, a curse. I felt an acute awareness that every single cell in my body contained a copy of a flaw. The truth, of course, is that my body is the same as it always was. The only difference is that now I know.
My paternal grandfather died as a result of Lynch syndrome, although we didn’t know it at the time. Colon cancer is one of the most common ailments for older people, and Grandpa was 73, so it didn’t raise any red flags. He’d gone in for surgery in late winter, but after taking a look, the doctors closed him up again. “You’ll have a nice spring and a good summer,” he was told. We knew it was serious because he told us he loved us — not something he’d ever said easily.
As autumn approached, my parents and I drove all day to the coast to spend a week with him, knowing it might be the last time. My grandfather was a boat mechanic, and he spent most of his time down at the docks. But the prospect of terminal cancer did seem to change something in him. He would sit in his chair or in the skipper’s seat on his boat, or walk around on the island in his blue overalls, quietly watching everyone. He seemed to be paying very close attention, in a way I’d never seen from him before. I wasn’t there at the end, when the cancer really ate away at him, hollowing out his face as it left him housebound, and so that’s the way I remember him: quiet, on the dock, paying attention.
My dad’s youngest brother was 46 when he died, about a decade later. He’d been seeing a physiotherapist for back pain, and by the time they realised it was actually colon cancer, it was too late. Then my dad’s middle brother was diagnosed with the same condition, and pulled through by the skin of his teeth. That sounded the alarm to start looking for an underlying genetic cause, but it took years to pinpoint.
Eventually, medical tests found a marker for Lynch syndrome, first in one brother and then in the next — a rudely dominant gene passed down alongside our strong chins and stubborn attitudes. When my father called to tell me I needed to get the test, he suggested that I not tell anyone: “It’s nobody’s business.” Well, I thought as I went and told some people: It’s my body, and it’s my business now.
The idea that any of this cancer stuff could have anything to do with me seemed ridiculous.
Still, it took me almost a year to get tested after my father’s phone call. It sat on my to-do list (“genetic test”), in between getting my bicycle tuned up and looking into saving for retirement. Eventually I got tired of looking at it and went and did it, figuring I’d probably test negative and get that nagging worry out of my head. The idea that any of this cancer stuff could have anything to do with me seemed ridiculous.
So I waltzed into my doctor’s office — One cancer gene test, please! — and they drew some blood. My doctor referred me to a specialist team at the hospital, where I nodded along as the genetic counselor explained what it would mean to test positive for Lynch syndrome. Yeah, whatever, I thought, I’m just here to rule it out.
It only took a month to hear back, because the doctors knew exactly what they were looking for: a mutation of the PMS2 gene, which they’d already identified in my relatives. And when my genetic counsellor called me with the results, I knew right away; it was in her voice from the moment she said my name.
I’ve had over a year to get used to this diagnosis, and it’s taken me this long to be able to really talk about it. I’m not sick, I keep reminding myself; I may never be sick. but this diagnosis has thrown everything into sharp relief. Life feels more fragile, suddenly at the mercy of one gene’s whim.
I’m still struggling to work out what it even means to have a certain percentage chance of illness. So I asked someone whose job it is to know — Dr. Philip Woodland, a gastroenterologist at Barts Health NHS Trust in London, whom I saw for my first cancer screening last summer. And he actually gave me some good news.
“The gene that you have carries one of the slightly lower risks,” Woodland told me when I called him. When I was initially diagnosed I was quoted much higher percentage chances of getting colon cancer (that terrifying 80%), but the specific PMS2 genetic mutation I have is less common and less well-researched than the other Lynch genes. That’s why, over the past year and a half, my quoted chances of cancer have actually been reduced all the way down to 20% — which is better, but still, when I think about it as 1 in every 5 people, feels significant.
All these numbers feel almost irrelevant; either this happens to me or it doesn’t.
But there’s lots I can do to improve my odds: getting screened, avoiding red meat, and taking a microdose of aspirin every day. And Woodland and I will be seeing each other every two years from now on so we can keep track of whether my genes are plotting my demise. Statistically, this should add 14 years to my life. Or it could be completely redundant; there are plenty of people with Lynch who never get cancer at all.
As you go deeper into the genetic predisposition rabbit hole, you get a lot of facts and figures, not all of them useful. As an individual, all these numbers feel almost irrelevant; either this happens to me or it doesn’t. Maybe I should just forget about all of this, cross my fingers, and hope for the best? When I suggested that to Woodland, he laughed sympathetically. “It's one of these medical interventions that's not actually about quality of life at all,” he said. “It’s about quantity of life.”
As relieved as I am to know that my risk is lower than I thought it was at first, it still doesn’t give me a clue what I’m supposed to do with the number I do have. I know it means 20 out of 100 people just like me will get cancer at some point and 80 will not, but this isn’t a math problem; it’s my life! And there’s no medical expert who can tell me (yet) if I’m one of those 20 people or not.
At first, Lynch was just a diagnosis — a thought experiment. But last summer, when I went in for my first colonoscopy, it started to feel very fucking real. This procedure is pretty routine, meaning I’m far from alone in having to endure the indignity of the “clean prep,” a description about as accurate as calling Mount Everest an ocean. But the experience was a very rude awakening, in that it made me feel, for the first time, like a sick person.
Reading the six-page document detailing the nature of the colonoscopy was the first time during this process that I cried. So then I did what I always do when I feel powerless: I found something I could control. The doctors were going to do this thing to me and I had to let them, but there was no way the UK's National Health Service was going to have monopoly on my ass. So with the colonoscopy looming on my calendar, I asked my partner: "Will you fuck me?”
It wasn’t a very romantic request. But Luke just nodded — hell, he even grinned. Before, he added a caveat: “I don’t want us to have sad cancer sex. If we’re going to do this, you need to actually want a cock up your ass." I laughed, and when we did it a week later, no one mentioned the word cancer.
I went into hospital a few days afterwards, where I put on the wildly misnamed “dignity shorts,” walked my starving body into the procedure room, and rolled over to one side as a doctor busted out a tub of Vaseline. I chuckled at the memory of what had happened the week before, before I cried with pain as they scrutinized my insides and found nothing. Now I’m home free for two years, before I’ll have to do it all over again.
My situation is one that more and more people in the world are facing. As medical technology has advanced, we’re able to identify and diagnose more genetic defects at the root of family cancer clusters. Celebrities going public with their genetic conditions have also spread awareness; Angelina Jolie, for example, wrote about deciding to have a mastectomy and hysterectomy after testing positive for a BRCA1 genetic abnormality, and inspired a dramatic spike in women requesting their own tests.
But as a culture, we still have very little experience with predictive genetic testing. Lynch syndrome, for example, is thought to affect 1 in 350 people around the world. That’s the same as the number of people estimated to suffer from depression. But only about 5% of those thought to be affected by Lynch have been diagnosed, and no one really knows how to handle the information a diagnosis like that gives us.
No one really knows how to handle the information a diagnosis like that gives us.
I’ve run through the spectrum of emotions since getting my test results. I’ve felt furious that this happened to me; I’ve spent months ignoring it; I’ve felt resentful that I have to know about it. My grandfather got to go through his whole life never knowing! But then, I think, knowing may well have saved my uncle’s life.
It’s normal to experience a grieving process after a diagnosis like this, according to Demetra Georgiou, a genetic counselor at North West Thames Regional Genetics Service in London. “But this is a highly manageable condition,” she told me. And at least, she said, “You know what to look out for, whereas other people don't.”
That didn’t necessarily make it any easier to hear my original genetic counselor tell me, just after I was diagnosed with Lynch, that I should consider a hysterectomy (because, she explained, there aren’t really reliable ways to monitor for the endometrial cancer that being a woman with Lynch puts me at risk for).
At that moment, it felt like the most ridiculous thing I’d ever heard. “Maybe we can talk about this after menopause,” I said. She nodded, oozing with sympathy in way that just pissed me off. “Yes,” she said, “but that would mean walking around with the risk of these organs inside your body for at least 10 years.”
There’s an image for you: an unexploded bomb inside your body, ticking as if it could go off at any moment. A year and a half later, I still don’t know what to do about my damn uterus, but I do feel clear on one thing: This is my body, and I get to decide.
I found out I had Lynch syndrome shortly before my 35th birthday. It was sunny that day, as it almost always is on my birthday — because I’m lucky, remember? I went to brunch, to an art gallery, and for a long walk along the canal by my flat in London. I was still feeling dissociated from my body then, coupled with the usual birthday stuff: One year older, what now? I’m not scared of dying, but I am afraid of lying in a bed for months and years, too sick to do anything.
Everyone told me it would get easier, and they were right. A year and a half later, I no longer think about my diagnosis every day. But I’m no closer to really knowing how I’m supposed to feel about it. I told my father about my diagnosis almost right away — he’d been asking — but I still haven’t told my mother. I’m working up the nerve, knowing I will have to do it very soon, but I really don’t want to put this on her. I won’t be able to protect her from it. I will have to look at her face as I tell her, and then I will feel everything too, all over again.
“You are normal,” Georgiou said to me. “We all have something; you just happen to know what you have.” I’ve been thinking a lot about this. It’s not that I enjoy the idea that everyone’s sort of screwed, but I can’t stand the look of extreme sympathy that some people get when I talk about my condition — the look that makes me feel like I have to put on a sad cancer face. Woodland told me I shouldn’t let this define me, that I should try to live my life as if this wasn’t the case. As far as it’s possible, that’s what I’m trying to do. I’m going to say these things to my mother, and maybe if she believes it, I can believe it too.
Recently I’ve started to see my diagnosis as a reminder that I have some agency in this: I can improve my odds.
Recently I’ve started to see my diagnosis as a reminder that I have some agency in this: I can improve my odds. I order chicken instead of beef now, and I take an aspirin every morning. And sometimes the medical appointments come with good news; when I met with a gynecological oncologist recently, he told me it may actually be possible to get screened for endometrial cancer after all. He was completely matter-of-fact, and it was a relief because it meant I could feel whatever I wanted. He didn’t require a performance. But still, every single one of these medical interactions sends me reeling — first towards a pub, and then towards drunk, aggressive sex with my partner, because I’m still alive, and there are still some things that I can control.
I feel an urgency to go and do the things I want to do, to not wait, because I don’t know what’s going to happen. I’ve always been a bit like this, but more so than ever now: I want to see what happens when I push slightly past my comfort level. I find myself watching everything and everyone a little more intently, paying very close attention. My grandma could still be right: Maybe I am lucky after all.
Jessica Furseth is a freelance journalist living in London, England.