'Wildcard’: A journey of genetics, waiting, frustration, desperation, and, finally, a big decision

How a gene mutation led a man with 'low-risk' prostate cancer to opt for surgery

(Editor’s note: Joel Axler posed some serious issues for the moderators at the AnCan Virtual Active Surveillance Support Group. Axler, on the surface, appeared to have low-risk prostate cancer. But he had a plot twist—genetic mutations that doctors increasingly are taking seriously in finding a path to treat prostate cancer. Just how ‘active’ should his active surveillance be?)

By Joel Axler

This was not a journey I expected to take. I guess no one expects it, but as a fairly fit man in my early 50’s, the only thing on my mind when I went in for my annual check-up in August 2021 was my cholesterol. A vegetarian since high school and a long-distance trail runner for nearly 20 years, I had nagging high cholesterol, inherited from my mother’s side. The blood panel I sought was to see if, for some miraculous reason, my cholesterol was in check or, at age 54, if it was finally time to join millions of others and start taking statins.

My doctor was new to me. He was recommended by a knowledgeable friend who felt he would advise me well about treating my consistently borderline-high cholesterol. The doctor was thorough and spent nearly an hour taking a history and talking about various systems of the body. “What do you know about the BRCA2 mutation in your family?”, he asked while reading the developmental history form I had filled out in the waiting room.

(Joel Axler, outdoors-lover on an outdoor pursuit.)

Along with BRCA1, everyone has the BRCA2 gene (an abbreviation for Breast Cancer 2). These have been found to be cancer-fighting genes that provide instructions for producing a protein that suppresses cancer development. But in some families, one or the other BRCA genes is mutated and doesn’t perform their function, leading to much higher instances of cancer and at earlier ages. A mutation of the BRCA2 gene occurs in less than 2% of the population but is much more common in some communities, particularly families of Ashkenazi Jewish descent. The lifetime risk for a man with a BRCA2 mutation is about 30-60 percent, compared with 12 percent for a man of average risk. Prostate cancer in men with an inherited BRCA2 mutation tends to occur earlier and may be more aggressive than in men without an inherited mutation.

Strong family history of BRCA2 mutation 

I told him what I knew of my family story. That my grandmother, two aunts, a cousin, and even a great grandfather all had breast or ovarian cancer at young ages. The BRCA2 mutation was identified in my family by my aunt about 15 years ago and my sister tested positive for the mutation. I had never been tested and I didn’t think much about BRCA2 because I thought the mutation mainly affected women. When the blood panel came back with a high PSA, 4.7, the doctor thought I should get tested too. Oh, and he put me on a statin for that pesky cholesterol.

I was on a vacation in early September when my doctor called, “You tested positive for the mutation.” My heart sank just a bit. It wasn’t unexpected. He was reassuring but with a confirmatory test of PSA, a free PSA of 6%, and a positive BRCA2 mutation result, there was no doubt that I needed to get into the urologist’s office. He started to talk to me about the possibility of prostate cancer and the process for identifying it. The doctor said what many of us have probably heard, “Prostate cancer is slow-growing. It’s not what you’re going to die from.” He added at the end of our call, “Try not to think about this too much and enjoy your vacation.” I had to laugh.

You have prostate cancer

Waiting is the hardest part, isn’t it? It took another month to get into the urologist, then another week, for the biopsy appointment. The urologist scheduled me back in the week after that, October 12, 2021, to hear the result. I had prostate cancer. The urologist was prepared with handouts and formulas showing 99% survivability at 10 years. The lump in my throat distracted me from hearing everything. I think he said something about surgery. The urologist recommended a second opinion at the Mayo Clinic. I remember walking out of the office feeling different somehow. Life had changed.

More waiting. Lots and lots of research. Frustration, lots of frustration. Doctor’s offices are so damn inefficient. How long does it take to get that referral? Why are they not sending my records? How come nobody is returning my calls? Fuck the patient portal! That’s how it was at the beginning for me. I was trying to figure out my direction and it seemed like every part of the process was just another obstacle to overcome.  The diagnosis was hard but negotiating “the system” was the real challenge.

By the time I got to my appointment at Mayo in November, a month after my diagnosis, I was already beginning to think Active Surveillance made sense for me. My Gleason Score of 6 (Grade Group 1), and low-risk category made it a no-brainer. The unknown variable was what impact my BRCA2 mutation had on my prognosis. I found little on my own and was hoping my Mayo doctor would give me direction. All treatment options were open to me, he said, and he went over everything: AS, focal treatments, radiation, and surgery. He felt the BRCA2 just put me at risk for getting cancer, which I already had, and that not enough was known about BRCA2 status and progression to inform treatment decisions. I left thinking I’d go on Active Surveillance, at least for three months until my next appointment. 

Support through the SWAT team at AnCan’s Virtual AS Group

In this next phase of my journey, I was becoming more confident in my understanding of the disease. I attended webinars and signed up for my first online Active Surveillance Virtual Support Group through AnCan, a patient support and advocacy organization. 

The moderators, professional volunteers, heard my story and very rapidly connected me with experts who study inherited gene mutations and low-risk prostate cancer. By the morning following the support group meeting, I had emails from leading researchers. The common thread in those emails was that early research is showing that prostate cancer progression in individuals with the BRCA2 is highly unpredictable at best and more aggressive at worse. The small handful of experts basically said a similar thing, AS, while still possible, may not be the best course for people in my situation. If I were to select AS, much more active surveillance would be needed.

AS is about buying time until definitive treatment is needed, I heard a urologic oncologist explain on one of the webinars I attended. It seems to be about living in the balance between delaying the lifestyle consequences of treatment while keeping the curability window open of this slow-growing disease. The problem, it seems, with BRCA2 is that my prostate cancer progression is unpredictable and the biomarkers used to monitor its progression are unreliable. How does one actively surveil something that is elusive and doesn’t want to be tracked?

Desperation

The decision-making process has been excruciating. I’m desperate. Desperate to live. Desperate to live fully. I don’t want to make the wrong decision and in the principle of “shared decision-making”, doctors don’t exactly tell you what to do. I’ve gathered so much information I can justify any decision in my mind in three different ways. When Mayo Clinic re-evaluated the biopsy in December that had been done by my local medical center, I was reclassified as Gleason 7 (Grade Group 2) favorable intermediate-risk. While still eligible for AS, my thoughts about treatment were beginning to focus. 

Just after the New Year, the Mayo doc called me in to talk about the reclassification. I was expecting a very direct conversation about what we needed to do. Instead, he gave me the same options I already knew about and had contemplated.

A decision

 I was disappointed. I was looking for more guidance and my expectations went unfulfilled. I went home that evening frustrated with my mind on a pendulum, swinging between AS and surgery. I had long ago ruled out the other available treatments for various reasons. By the next morning, after a restless night, I finally accepted that this was my decision alone and only I was going to make it. I think I knew what I had to do since the moment I was connected to those researchers and read the studies. I just wanted someone else to tell me. The BRCA2 mutation is a wildcard. My best chance of assuring curability is to take care of it now. 

I wouldn’t say that finally making a decision has come with tremendous relief. I feel like it is settled business, though. Like a to-do item that has finally been checked off. I can spend my time thinking about other things, planning my adventures, moving on.

Joel Axler is an avid trail runner, backpacker, and all-around outdoor-loving fool living in Flagstaff, Arizona with his supportive wife, Randi. He proudly notes that his two young adult children are off on their own adventures in different corners of the world.

(One is sailing down the coast of the Baja peninsula and the other is in Alaska guiding sled dog trips in winter and participating in climate research in the summer.)

Joel fits working as a school psychologist with the Flagstaff School District in between his outdoor pursuits. At 54 years old and diagnosed in October 2021, prostate cancer is his first real experience with the medical system. Surgery is scheduled for April 2022.

The AnCan Virtual Support Group for Active Surveillance meets the first four Wednesdays of the month in drop-in sessions. Go to the Barniskis Room: https://ancan.org/groups/joining-instructions/

Meanwhile, please take The Active Surveillor Quick Survey on genetic testing.