It turns out that even a routine referral to your periodontist can loop back to your cancer journey. Who knew? The interesting thing is that it may connect some dots. I have a ‘cobblestone’ pattern on my gums—tiny little clusters of bumps I’ve had forever—that my new dentist thought were worth evaluating ‘just to make sure.’ Cue the referral to an oral pathologist.
As a new patient, my intake was a complete history, and I’m learning to package my diagnosis, treatment, and post-treatment monitoring into an elevator pitch that is direct and doesn’t trigger me. Just the facts, ma’am.
The doctor was thorough, interested, and then stopped to ask a question that has opened a new door in exploring my health, ‘Have you had any genetic testing as part of your treatment?’
The short answer was ‘no,’ but I did have a wealth of information in my phone. We called up the IHC profile from my hysterctomy pathology, the results of my most recent mammogram, and the details from my last thyroid biopsy. Then she explained that the constellation of my conditions— including the bumps on my gums—made her suspicious that I might have Cowden’s Syndrome, a rare genetic mutation that increases your risk for certain cancers—endometrial and thyroid included. So now I’m sleuthing in my family’s medical history to see if there are other clues.
When I see my ENT specialist next Friday to review my latest thyroid biopsy results, we’ll talk about whether genetic testing makes sense. It’s the only way to confirm the diagnosis.
What does it change?
If I do have this syndrome, on the surface it doesn’t change much. It may shift the frequency of some of surveillance appointments, but there is no ‘cure’ for this mutation, only management of risk. One reality is an up to 85% lifetime risk of breast cancer when you have the PTEN mutation. The thyroid cancer risk is 35%, and endometrial cancer is 28%.
People with this syndrome are prone to more than one cancer, so monitoring my thyroid closely, and choosing breast MRIs instead of a regular mammogram is likely. I’ll be checking in with my team to see how much my quarterly scans and bloodwork can cover these bases vs adding additional testing to my routine.
Some women choose to have a risk-reducing mastectomy. I’m sitting with this possibility and letting my brain noodle it over. I feel lucky to live in a major city with a first-class medical team only a bus-ride away on public transit. That team includes access to the genetic testing that is likely in my future. And I know that together, we’ll figure out the best path forward for me.
What comes next?
What I do know is that genetic testing will take at least three months, and more like six, before it happens. In the meantime, what I can do is continue to focus on rebuilding my muscle mass, improving my endurance when I run, and eating a diet that will support both those aims.
I’m also looking at fall races and guesstimating whether a 10k is in my future. I’m comfortable with a 5k distance now, but pushing for this longer distance will definitely take some work. My next blood panel may make that decision for me—if the anemia that has been dogging me through treatment is improving, then I’ll likely decide to go for it.
Only time will tell …
Running from hysteria 
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