Genetics, Risk & Why I Chose to Step Off the Railroad Tracks
I’m currently living on railroad tracks, and I don’t know if a train is going to come and eventually crash into me.
Are the tracks deserted or active?
Heck if I know!
If you were on these tracks, what would you do? Stay on the tracks and let that possible train come tomorrow or next month or next year or when you’re 60? 65? 70? (Or, not me, but 40?)
Well, it’s been a little scary for me lately coming to the acceptance that my home was built over railroad tracks. I’ve worked really hard to take care of my home, giving it all the best I know to do, and I want to enjoy it for as long as I can – to enjoy life. I’m not very excited about a big train coming and maybe knocking it down. I’ve had too many big trains in my life already.
After a lot of research and talking to others in the same situation I’m in, it’s become obvious to me what I need to do. I’ve decided to construct a lighthouse run by train specialists (who know more than I do) to help me shine a bright light and keep an eye out for rogue trains, to try to help identify them at a distance rather than when they already are barreling right at me. Trains that are 50 miles out are easier to manage and make a plan for than those that are 50 yards out.
My new lighthouse will help me, and already is helping me–partially constructed, decide how to manage my rogue-train risk, how to catch any potential damage to my home as early as possible and, most significantly right now, tell me when to simply get off the tracks.
Tomorrow, in fact, I’m jumping off.
My train specialists say there’s one section of the track that’s at especially high risk for unpredictable, rogue trains, and that I need to remove that section. Once it’s gone, I won’t need to worry about that part of the track system. And while the specialists are dismantling it, they will examine it to make sure no tiny trains got through before I knew to even knew to look for them.
In February I was diagnosed with Lynch Syndrome, which is a genetic mutation that puts me at high risk for uterine cancer and colon cancer, as well as higher-than-average risk for several other cancers, including ovarian. With the specific MSH6 mutation that I have (there are a few gene mutations associated with Lynch), my lifetime risk of uterine cancer ranges from 16% to 49%, according to the National Comprehensive Cancer Network (NCCN); this compares to a 3.1% lifetime risk for the general population. And my risk for colon cancer is 10% to 44%; this compares to a 4.2% lifetime risk for the general population.
I received genetic counseling and testing this winter, upon the recommendation of my primary care physician (PCP) and breast-imaging center, because of my parents’ and extended family’s histories of cancer. My dad had two types of cancer (kidney and prostate), and my mom had two types, as well (skin and brain). And there is a good amount of cancer among my aunts/uncles and cousins. My mom died of her brain glioblastoma, and my dad died of end-stage metastatic prostate cancer (hurried along by suicide when he was close to the end).
There’s always been this understanding in our family that we must be at higher risk for cancer because of our parents. It’s felt a bit like Russian roulette, with no specific understanding of what our risks actually are because the cancers have been all over the place.
I have one copy of the MSH6 mutation, meaning I received the mutation from either my mom or my dad. Not both. Since all of their cancers are on the Lynch list, I don’t know whom it came from.
With a bit of a mental-processing delay, which is rather normal for me (I tend to delay-cry, as my sister would tell you), the diagnosis then hit me like a brick following four hard years of ups and downs trying to get traction on creating my new normal after my sexual assault in 2018, dealing with a difficult prosecution process in 2019, the Covid pandemic in 2020/2021+, and knee surgery and a blood clot in 2021.
Medical appointments became really difficult and triggering for me after my assault, which is common for Survivors and which I’ve written about before. I did my best to keep up with preventative care in 2018 and 2019. But to be honest, the shutdown in 2020 felt in one way like a delicious reprieve to me – in that I took it as an excuse not to deal with medical stuff. But the moment I got my initial Covid vaccines in 2021, I did get back in the saddle and started making my way through a long to-do list of self-care, including a mammogram, dermatology skin check, delayed dental work, and a physical. At my physical last October, my PCP reminded me again about genetic counseling, and so I said yes, fine, and got a referral.
I did this because it was the next thing on my to-do list of self-care. For the last 15-20 years, especially, I’ve taken the job of minding my health pretty seriously – for myself, and for my family.
I wasn’t looking for or expecting anything specific with the testing, even with my family history. Really, I was operating on autopilot more than anything. An autopilot of a self-care to-do-list. “What’s next?” This is next. Get the testing done because you have a family history. OK. Let’s do it.
The genetic counselor tested 48 different genes related to cancer risk. I came up positive for Lynch, MSH6.
There’s a difference between a vague knowledge that it seems you have a higher risk of cancer looking at your family tree, and the specific knowledge of your risks. I was not expecting a major cancer-risk syndrome. I just really wasn’t.
It blew me away for a few weeks, and I was depressed for sure. There was lots of crying involved, mainly in private or in therapy, because that’s where I do most of my processing. (That and through my writing and art.) Like with my assault trauma and PTSD, it was difficult for many of those around me to really understand what this diagnosis meant in general and what it meant for me specifically – how it affects my life. So it has been lonely, for sure, like the sexual assault definitely was or as any Big Event, such as grief or illness, can be.
If I’m being honest, and I try to be when I write with the purpose of bringing light to things that people are afraid to talk about, at various times the last couple of months I have felt a sense of judgment for getting the genetic counseling and for the results, and a sense of shock or incredulousness that I’ve decided to pursue the medical recommendations for the diagnosis. And sometimes I’ve felt the silence.
I think it’s a hard one for people to understand. Why would I worry about or do anything about this when there’s nothing wrong with me yet? Maybe I’ll never develop cancer?
Maybe I’ll live on the tracks and a train will never come.
I have also at the same time had tremendous support from family and friends and am so grateful. And I believe the more tentative responses are because the role of genetic counseling is still misunderstood. While it will be a very normal medical tool in the future, it is still in its developmental years and people are just not used to it yet. It doesn’t feel like normal practice yet, perhaps.
So just as I do with talking about sexual assault and trauma, I will use my voice to try to help break the stigma a little bit. I will try to help others understand by telling my story.
I understand now that genetic testing saves lives, that it’s a tool that allows doctors to more accurately screen for the risks that are most statistically relevant to each person – not just shots in the dark. I hope that by my starting the ball rolling, that down through the layers of my family, as more people are tested and we identify from which side of the family this originates, successive generations will have more knowledge and can plan and test and catch any problems early.
If I had biological children, each would have a 50% chance of having the MSH6 mutation. It’s important to know about Lynch Syndrome individual risk as soon as possible because Lynch cancers can be known to develop earlier in life. Though this hasn’t happened in my family as far as I know, that doesn’t mean it can’t happen. And just because my parents had prostrate, kidney and brain cancers doesn’t mean I won’t get uterine or colon cancer.
Knowledge is power.
So with the knowledge that I now have and that my doctors have, I’ve begun to set up a thorough annual screening process, including an annual colonoscopy and endoscopy. I will also see a urologist because I had a growth in my bladder in my 30s that was removed twice and watched for 10 years, and because my dad had cancer in that general region. And I likely will get more specialized breast screenings.
First, though, I will get a radical hysterectomy. Tomorrow. I will jump off the tracks and take multiple cancers off the list at once (hopefully). It’s what my new gynecologic oncologist recommended fewer than three weeks ago based on my diagnosis and my age (and probably a bit of my history of uterine polyps and post-menopausal bleeding). According to NCCN, uterine/endometrial cancer has an average age of presentation of 53-55 years for the MSH6 mutation.
I am 55.
The ovaries are going, too, because ovarian cancer – also on the MSH6 list – is very difficult to catch early. There’s still no good way to test for it.
I feel very good about this decision. Solid. I have good doctors, and I have consulted with many women through my MSH6 Facebook support group who have been where I am now, have beautifully shared their previvor and survivor stories with me, and know why it’s the right thing to do. They have encouraged me. I am grateful for the guidance of those who have come before me, and I hope to help guide those who come after me.
With this, I continue to put one foot in front of the other and move on, define my new normal again, and hopefully be around a long time to enjoy it!
Everything changes in life. Constantly. I have learned in my more than five decades that life is a continuous series of “starting again” and adjusting to new normals.
I’ve got this. We’ve got this.