By Mary Rokhvadze, as told to Rachel Reiff Ellis
My lung cancer diagnosis started with a trip to the ER for chest pain. There are a lot of things you imagine could be happening when you have severe pain in your chest, and most are heart related. But it turned out not to be my heart at all. A chest X-ray revealed a spot in my lung.
After a follow-up CT scan, the doctor told me my lung had a mass with a starburst shape that looked like it could be a malignancy.
Looking Back for Signs
Before the chest pain that sent me to the hospital, nothing stood out as a warning sign that something was going on in my body. In the four years prior to this, I’d had three major surgeries that were completely unrelated — gallbladder removal, appendicitis, and removal of a large benign cyst called a cystadenoma. I was otherwise healthy and on no medications.
Anything I felt was subtle enough that I attributed it to normal aging or to the fact that I’d been through so many surgeries. The month before the ER visit, I had a cough, but it was unremarkable. Over the summer, I was a little short of breath, but I was working at a retreat center, walking uphill every day, and camping. I just chalked it up to getting older.
I retired early at 55 as a teacher-librarian and decided to become a full-time traveler. I spent time in Florida and was exposed to mold. I’d had a cough 18 months earlier that went away when the mold problem was fixed. So I convinced myself that’s what this was. Mold exposure. I asked them to test me for everything, including histoplasmosis. Up until I got the final report, I truly believed that’s what I was dealing with.
Confirming the Diagnosis
Malignancy is a scary word to hear, but it wasn’t my first brush with alarming radiology language. In 2021, my cystadenoma labs reported it was “suggestive of malignancy.” But it wasn’t cancer. Then earlier this year, I had a gynecological ultrasound that came back with that same dreaded phrase, “suggestive of malignancy.” For a month, I thought I had uterine cancer until a biopsy proved otherwise.
So laying there in the ER hallway hearing the word malignancy again felt surreal, but it didn’t quite sink in. Instead I thought, “Here we go again.”
After the ER visit, things moved quickly. To get a PET scan, I needed a pulmonary function test. The respiratory therapist I saw was a gift. She called the pulmonologist while I was still in her office and pushed to get things moving. Instead of waiting three weeks, the pulmonologist called me that same evening and scheduled the PET scan.
A month after the ER visit, I had a bronchoscopy and biopsy. Soon after, the pathology report appeared in my health portal. The doctor hadn’t called me yet, so I told myself not to look at it. I looked anyway. It confirmed a malignancy.
I called my sister immediately. She has a nursing degree and has been incredible, just like the rest of my family. But a quiet miracle happened at the same time: Someone ordered next-generation sequencing — a report called CARIS that gives you a detailed molecular profiling of your tumor. That doesn’t always happen automatically. The results of that test changed everything.
Finding the Exon 20 Group
What I learned from my report was that my lung cancer cells had a mutation called EGFR exon 20 insertion. I read that report carefully — all 27 pages of it — to try to absorb what it was telling me. Luckily, as a librarian, I know how to go to primary sources and read studies. But it was still a lot to take in.
My brother suggested I go on social media and find cancer support groups. That was before I even knew what exon 20 was. But once I had the CARIS results, I started searching specifically for exon 20. Almost immediately I found the Exon 20 Group.
I filled out their application and emailed the executive director, Marcia Horn. Within days, I was on the phone with her. That call, which was over an hour long, was a gift.
She explained things no one else had. She connected me with experts across the country — people at major cancer centers who reviewed my reports and confirmed what treatment should actually look like for my mutation. She helped me understand that exon 20 insertion mutations are very different from what are called the “classic” EGFR mutations, EGFR exon 19 and EGFR L858R, and that the approved oral EGFR inhibitor deployed against those two mutations rarely works in people with exon 20 insertion. Immunotherapy also isn’t the answer here.
Most importantly, she reached me before I had gotten any treatment. That matters. That’s when you don't want to miss out on a promising phase 2 or phase 3 clinical trial that would be geared for people with exon 20 insertions who have not yet had any first-line drug regimen. In short, the Exon 20 Group became an incredible lifeline, connecting me to information and innovation I didn’t even know I needed.
Knowing More Than My First Oncologist
My first oncology appointment was at a small hospital near my home in upstate New York. The oncologist I saw recommended an oral drug that I knew wouldn’t work for exon 20 insertions. Incredibly, I was able to say, “That drug doesn’t work for exon 20.” And I knew that because of my own research and because of the Exon 20 Group.
To her credit, she knew that she didn’t know. She recommended I find a larger cancer center with oncologists with more experience with my mutation. I was one step ahead: I had already scheduled a second opinion at a larger cancer center.
By the time she called back with the correct recommendation days later, I had already spoken with Marcia, emailed specialists, and gotten confirmation from multiple exon 20 experts that her first suggestion had in fact been incorrect.
It was a powerful lesson in the importance of doing your own research, advocating for yourself, and making connections that can support you along your journey.
Looking Forward
I’m early in my treatment now. Although I started with a stage 3 diagnosis, a later MRI revealed metastases in my brain. That changed my stage to 4. I moved in with my daughter, who lives five minutes from a major cancer center. I’ve started stereotactic radiation to my brain and will soon begin amivantamab with chemotherapy. I’ve met with one of the leading exon 20 specialists, who confirmed the plan.
Just in the last year and a half, new treatments have been approved and more are coming. The book hasn’t been written yet — not just for exon 20, but for each individual cancer subtype.
When you’re living with cancer, there can be such incredible dread every time you open a test result. But my advice is this: Read the reports. Understand them as best you can. Use your intuition to make decisions about your treatment. And assemble people who will walk this with you.
I don’t know exactly what living with this disease will look like once treatment fully begins. I’m in pretreatment right now, and I feel well. I know that may change. But I also know this: Being part of this community, sharing my story, and helping someone else down the line matters. And that gives this moment meaning.
