As a young woman, Jennifer Trefzger was diagnosed with stage 4 colorectal cancer. Her diagnosis was a result of a surprise finding through routine bloodwork as part of her gender-affirming care.

In the post below, Jenny tells her story for QC.

In 2017, I was diagnosed with colon cancer at 23 years old. I was initially told I had stage 3c cancer with a 70% chance of surviving five years. I later learned it had been stage 4, and my survival odds were closer to 15%. This mis-staging may have helped me stay positive at first.

My health insurance was an HMO, Kaiser Permanente. This allowed my doctors to communicate and schedule appointments quickly, but it also meant I could not get a second opinion at a National Cancer Institute (NCI) designated center. I was not aware of NCIs until I was in remission, or no evidence of disease (NED).

The cancer had been present for years, with symptoms appearing as other ailments. The first signs were in high school with rectal bleeding. An oncologist later suggested this was the cancer's first appearance. A doctor I spoke with as a teenager questioned my anal sex life, which made me, as an autistic teenager, hesitant to discuss personal health issues again as I was still a virgin.

Leading up to the diagnosis, my energy was low, which was complicated by my autism and my difficulty communicating when overwhelmed. My ADHD meds kept being upped and I was eventually on the maximum dose of focalin, which kept me going through the anemia discussed below. Doctors diagnosed me with whooping cough, pneumonia, and sciatica. I lost about 50 pounds in five months, but medical staff congratulated me for "beating obesity.” A binge eating disorder masked the weight loss, as I was eating large amounts of food while my weight dropped. If I wasn't binge eating, my weight likely would have dropped so much it would have set off alarm bells.

This may be the most unique aspect to my story. My gender-affirming care led to the discovery of the cancer. I started Hormone Replacement Therapy (HRT) at 19. During a routine check-up with my endocrinologist in October 2017, my iron panel and red blood cell morphology results were very low. Doctors were surprised I had never passed out, which was likely because I was on the maximum dose of Focalin for ADHD. I had thought my ADHD was getting worse and the dose was increased, not knowing the cancer was affecting me.

Within six weeks, a colonoscopy was ordered, as the reason for my low iron was still not understood with a rectal bleed being the suspected cause. This procedure found a 5cm tumor blocking my descending colon. My future surgeon, Dr. Anathea Powell, called me and asked, “What are your pronouns and can you still poop?” I could, which allowed 24 days to plan the surgery. In December 2017, I had an open colectomy, removing 20cm of my colon and 25 lymph nodes. The tumor had grown around a nerve, which was the cause of the "sciatica" symptoms. A 5mm nodule on my lung was considered too small to be a concern. After 12 rounds of full-dose FOLFOX chemotherapy in 2018, the nodule disappeared and I was declared NED.

My oncologist left for a new job, and no one scheduled my follow-up appointments. I assumed I had “beaten cancer.” While I was working with my insurance to cover facial feminization surgery, I developed a cough and had difficulty breathing, which were dismissed as allergies. No doctors inquired about my last scan or if I had spoken to an oncologist.

In February 2020, I had facial feminization surgery at Johns Hopkins. During the procedure, I had a central retinal artery occlusion, a stroke that caused blindness in my left eye. The scans that followed the stroke revealed two nodules in my lungs. The COVID-19 lockdowns in Maryland began the day after I met my new oncologist. He believed it was more likely a new primary lung cancer and probably benign due to its slow growth. A PET scan showed the nodules were active, and a biopsy in spring 2021 confirmed it was metastatic colon cancer.

My oncologist at Kaiser left for Hopkins, leaving me without an oncologist again. I contacted the Kaiser Permanente Gaithersburg oncology office and was assigned to Dr. Leon Christopher Hwang, the head of the department. I am not sure if I ever met him in person, as our interactions were via video chat and phone calls during the pandemic. I began a six-month regimen of chemotherapy (FOLFIRI) and targeted therapy (cetuximab), a treatment option that was not yet available in 2018, due to next-generation sequencing test results. My doctor thought the treatment could be curative due to my response to the combo. Side effects included a rash, hair loss, weight gain, and feeling unwell. After three months, I requested a break and an appointment with a thoracic surgeon, Dr. Nyen Chong, who agreed to operate.

I had two separate VATS lung wedge resections in August and September of 2021. While I was recovering from the second surgery, my parents went away for the weekend at the family beach house, which was seriously damaged from a neighboring fire. I restarted treatment with FOLFOX, planning for six months but stopping after three, in January 2022. During this final regimen, I experienced a near-anaphylactic reaction and was put on a desensitization protocol. In addition, I was hospitalized in December 2021 for vomiting blood, which was determined to be severe chemo-induced gastritis.

It's also entirely possible that the 2 COVID vaccines I received shortly before starting cetuximab and the one I received shortly after finishing that line of treatment may have aided my recovery. Recent studies have shown that COVID mRNA vaccines can make certain forms of immunotherapy more effective if done within 100 days of treatment.

The treatments ended several years ago, but they have seriously affected my body. I started this journey at 175lbs. My weight increased to 300 pounds by the end of treatment, due to my binge eating disorder and medical advice not to lose weight during chemotherapy. I was told to eat whatever I could, so I did. I have since lost 90 pounds through lifestyle changes. The chemotherapy caused nerve pain, and I have since developed spine and migraine issues. I frequently go to pain clinics for procedures like Quentza patches (which cost $1600 a patch, which is absurd), trigger point injections, RF ablations, epidurals, PRP, nerve blocks, Botox, and a canceled clinical trial using a tetrodotoxin (puffer fish toxin). It's recently been determined that I apparently have anterior cutaneous nerve entrapment syndrome, ACNES, likely due to my prior colectomy and history of morbid obesity.

Genetic testing in 2017 was negative. The genetic counselor had suspected Lynch syndrome due to my Ashkenazi Jewish roots and family history of pancreatic cancer. Recent testing in 2024 showed a single NTHL1 gene mutation, but two are required to explain the cancer, suggesting the cause was spontaneous or environmental. I have theories about the cause, including long-term doxycycline use, microplastics, or the stress of being an autistic person seeking to transition. It is possible that more NTHL1 mutations will be discovered or that I have an undiscovered genetic condition.

I have never been good at making friends, and cancer ghosting is a phenomenon that is difficult to experience. My parents, Bill and Cheryll; my brother, Zach, and his wife, Ginamarie; and my dogs, Buddy and Riza, have been my support system. Ginamarie and I have a running joke that every cancer diagnosis comes with a homemade chocolate babka. Thanks to Ginamarie's friend Yanina for the recipe!

I am now 31 years old and have been NED for over four years as of September 2025. After working for eight years in the veterinary field, I am now studying to become a medical coder (thanks to Corrine Smith, the program head, for being so supportive!). My gender-affirming care was instrumental in saving my life. My story shows that it is possible to survive medical trauma and continue to become your true self. My advice for others is to advocate for yourself, get a second opinion from an NCI-designated center, join Colontown, see a dietitian, and do physical therapy.

As All Might from My Hero Academia says, "Go beyond! Plus Ultra!".