Summer 2012. A seemingly innocuous bump in the middle of my back…
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“Nothing to Worry About”
Summer 2012. A seemingly innocuous bump in the middle of my back…
… colorless and painless… A medium-sized raised area that felt like it should pop, but wouldn’t… Been there for years… something I didn’t even notice or think about unless I brushed back against something.
And so, I went to the dermatologist, who confidently told me to stop picking at it. That it was nothing to worry about. Seriously. I resisted and told them that I would keep trying to pop it until they biopsied it. I just wanted this thing off my body.
They relented and did so–doing what’s called a punch biopsy. A week and a half later, the verdict was in: Atypical Sebaceous Adenoma. Not cancer, but definitely abnormal and a precursor to becoming cancer-–a rare form of skin cancer called Sebaceous Carcinoma (oil gland cancer).
But that wasn’t all.
For one, I needed to come back for more surgery because the margins of the biopsy site were abnormal and therefore still prone to developing into cancer.
And for two, the pathology report also said that I had the genetic mutation for something called Muir-Torre Syndrome, a variant of something called Lynch Syndrome.
I was quietly referred to a genetic counselor at a local cancer center.
A far cry from “Stop picking at it. It’s nothing to worry about.”
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And So It Begins
It’s a hell of a thing to pull up to a building that reads “Something Something Something CANCER Center”…
… and realizing that YOU are the reason you’re there.
Surreal. Feeling totally detached from my body, yet somehow able to drive there, park the car safely, get out, move my legs, walk through the front door, check, in with the smiling receptionist, and survive the twenty-minute wait for my name to be called.
As I sat in the waiting area, a dozen or so cancer patients shuffle by or are wheeled past me—each in a hospital gown with IV in tow—some bandaged, bruised, and bald—faces and bodies as if all the life had been sucked out of them.
Is this what my future looks like?
F&ck.
My heart sank and bled for each and every one of them—especially for the ones who were way too young to be there.
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Genetic Counseling
It took just a few minutes and a handful of questions about my personal and family health histories…
The pathology report for the lesion recently excised from my back.
The Sebaceous Carcinoma excised from my chest the year before (and the very casual mention of Muir-Torre Syndrome by my dermatologist at the time).
The fact that I was a Colon Cancer survivor.
The fact that my mother had Endometrial Cancer in her forties.
The fact that her father died from Bladder Cancer at age fifty-six.
It all added up, as clear as could be: Lynch Syndrome (a particular variant called Muir-Torre Syndrome)
It was also clear that I inherited it from my mother, that she inherited it from her father, that it had been killing people on my mother’s side of the family for generations, and that it was still with us. Besides the shock of the news, it blew my mind that it took so long for this “family secret” to be discovered.
I was handed some literature on Lynch Syndrome and Muir-Torre Syndrome, recommended a surveillance program, and referred to an oncologist who specializes in cancer genetics.
Not what I hoped to be doing with my life.
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What is Lynch Syndrome?
Lynch Syndrome is a hereditary cancer syndrome that predisposes one to a long list of genitourinary and gastrointestinal system cancers…
In particular, Lynch Syndrome is associated with an extremely high risk of Colon Cancer in both sexes and Endometrial (Uterine) Cancer in women.
In addition, the variant of Lynch called Muir-Torre Syndrome further predisposes one to a rare and aggressive form of skin cancer called Sebaceous Carcinoma (oil gland cancer).
In layman’s terms, having the Lynch mutation means you do not have the genes required to repair mistakes made during DNA replication. In other words, the Lynch mutation does not cause cancer per se, but it renders one significantly more vulnerable to getting cancer.
Importantly, Lynch is a hereditary syndrome. If one parent has the Lynch mutation, there is a 50% chance that it will be inherited by a child. (Naturally, this has some profound implications that will be discussed in subsequent posts)
learn more… Lynch Syndrome International
As of this writing, the prevalence of Lynch Syndrome is estimated to be around 1 in 300–suggesting that over a million Americans alone have the Lynch mutation. It also suggests, as of this writing, that most of them don’t know they have it. This, of course, is one reason I was compelled to come out with my cancer story.
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Telling Your Family
“Mom, I have something to tell you…
I just learned why I got Colon Cancer and Sebaceous Carcinoma. I know why you had Endometrial Cancer years ago. And I know what killed your dad at fifty-six. We have something called Lynch Syndrome.”
I had to tell her so that she could protect herself, so that she could inform her siblings that they may also have it, and that they may have passed it on to their children and beyond.
By the way, informing my own siblings that they, too, might have it (a 50% chance) was a separate and no less heavy conversation.
Alas, the first place my mother’s heart and mind went was to express guilt at “having given me a disease”. Of course, no such thing ever crossed my mind. There’s no reason to feel responsible for something nobody knew anything about until now.
And I assured her that I felt no differently about her than she did about her own father.
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Perspective
At first, I was devastated by the Lynch Syndrome diagnosis…
In fact, my very second thought (after needing to tell my mother about it) was that the bladder cancer that killed her father (my maternal grandfather) at the age of 56 was also my destiny.
I was absolutely convinced that I’d never see my 57th birthday. I did not merely think this. I really believed it… and lived my life accordingly. Why wouldn’t I believe and accept this as my fate? My body already knows how to make colon cancer and sebaceous carcinomas. Why wouldn’t it make more of them and toss in a few more cancers just for fun?
Yet here I am, still. 64.8 years old… and able to share my story in the hope that it might help others.
It’s been a tortuous and torturous path, but I’m still here because of that “routine” colonoscopy at age 50. I’m still here because I pushed to have that lesion on my back biopsied. I’m still here because I got referred to a genetic counselor. I’m still here because the genetic counselor referred me to a cancer geneticist. And I’m still here because I’ve been doing some simple (not to be confused with easy) things required to nip most Lynch cancers in the bud.
(I’m still here for lots of other reasons, too–reasons better shared at a later time so that I may give them their proper due)
Message: If you do the appropriate surveillance, most Lynch cancers can be prevented or cured in the early stages… and all the numbers are on your side.
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Surveillance
Since 2012, I have been under surveillance for the long list of possible Lynch Syndrome and Muir-Torre Syndrome cancers…
… a program that includes regularly scheduled dermatological exams, blood work, urinalysis, imaging, colonoscopies, endoscopies, cystoscopies, and clinical examinations.
I have since had over two hundred skin biopsies and multiple surgeries to excise a dozen or so sebaceous carcinomas… as well as dozens more sebaceous adenomas, which if left untreated would have likely become cancer.
I have had at least a dozen colonoscopies and upper endoscopies that have painlessly removed multiple pre-cancerous (adenomatous) polyps which almost certainly would have become cancerous if left untreated.
The road hasn’t been easy, but I am still here… six full years and counting past what I was convinced would surely be my expiration date.
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Privacy Issues
I was already retired and fully vested in my health insurance program when I learned I had Lynch Syndrome…
And so, I was not burdened with the ethical and legal considerations raised by two pertinent questions:
Does having the Lynch mutation count as a pre-existing condition that an insurance company would hold against you?
Does having Lynch Syndrome make an employer think twice about hiring you?
I would never dare to give specific advice regarding the ethical and legal ramifications of your privacy concerns. Instead, seek the guidance from a genetics professional who specializes in such matters.
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Having Children
Knowing that one carries the Lynch Syndrome mutation has an enormous impact on deciding whether to have children or not…
Disclosure: I don’t have children–by choice–a decision, by the way, that has nothing to do with my Lynch Syndrome diagnosis.
Leaving things to chance is like flipping a coin–a 50% chance of passing the Lynch mutation to your children.
But, as of this writing, my understanding is that there are ways to have children without the risk of passing on the Lynch mutation. Beyond that, I would never dare to give specific ethical or medical advice. As always, seek guidance from your doctor and medical and genetics professionals who specialize in such matters.
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Telling Your Children
Because I don’t have children, I’ve never been burdened with deciding if, when, and how to tell them that I have the Lynch Syndrome mutation…
… and that they may also have it (a 50% chance).
Of course, this begs the question: What are the ethics of having your kids tested for the Lynch mutation without their knowledge?
The rationale for doing so is that, if they test negative, you can avoid all the anxiety and stress involved with being open about it all.
Of course, if they test positive, the question of “if” no longer matters. But you are left with the heavy questions of when and how to tell them and deciding what surveillance is appropriate.
I’d never dare to give specific advice in this area. Instead, seek the guidance from your doctors and genetics professionals who will help you make ethical and rational decisions regarding such matters.
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Knowledge is Power
Allow me to close the series out with some empowering takeaways that put a Lynch Syndrome diagnosis in the proper perspective… and will–not just can, but WILL–keep you and your loved ones alive.
First, don’t bury your head in the sand.
If you have a family history of cancer–of the uterus, ovaries, bladder, ureter, kidney, stomach, small intestine, liver, pancreas, prostate, and oil glands (there may be others), take seriously the possibility that there is a hereditary component to such histories.
Especially–I repeat ESPECIALLY–if there’s a family history of colon or uterine cancer at a young age, talk to your doctors and get tested for Lynch Syndrome.
And if you happen to test positive for the Lynch mutation, don’t hide it from your family. As difficult as that conversation might be, sharing that information may save others in your family as well.
Second, if you discover that you or a loved one has Lynch Syndrome, don’t freak out.
Realize that such knowledge—as upsetting as it—is power. The power to design a surveillance program with your doctors that will enable you to “stay ahead” of the most common types of Lynch cancers, and thus to swing your odds of living a relatively long and healthy life hugely in your favor.
Specifically, colon cancer is by far the most prevalent of the Lynch cancers–with a lifetime prevalence so high that you should just assume your body is going to make colon polyps. That said, the great news is this: Getting an annual colonoscopy and upper endoscopy (EGD) almost guarantees that you’ll painlessly nip any pre-cancerous polyps (adenomas) in the bud and keep you alive.
Women, of course, should develop a surveillance plan with their gynecologist (which may include a preventative hysterectomy). I dare not give any specific advice beyond this mention.
And if you’ve got the Muir-Torre variation, regular dermatology exams are almost guaranteed to nip sebaceous adenomas in the bud and keep you alive and beautiful.
There are other valuable surveillance methods as well–blood work, urinalysis, imaging, and clinical examinations—all of which act as early-warning systems—and have the power to further swing the numbers in your favor.
As inconvenient as all the above might be, take it all in stride. Just think of it like going to the dentist, doing your taxes, or doing regular maintenance on your car.
By the way, I (Frank) am talking because I know. I’ve been there and still am here because I’m armed with knowledge and a plan that works.
I encourage you all to dig deep and do the same. Do it for you, for those you love, and for those who love you back.
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Frank’s Cancer Story continues… My Chronic Lymphocytic Leukemia
Discover more from Frank J. Peter
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