Stories of biomarker results that changed everything.
Jodi’s research the night before Troy’s second chemotherapy infusion uncovered a DPD deficiency that would have caused a fatal toxic reaction. A BRAF V600E result has already reshaped his treatment plan. Today, Troy is NED.
“Without Jodi, I would have been dead, for sure. Not a doubt in my mind.”
Troy Warshel started having abdominal pain and other gastrointestinal symptoms in October. With his wife Jodi by his side, Troy had a frustrating series of appointments and imaging tests, pursuing the possibilities of acid reflux or even a rare parasitic infection picked up in the Middle East during his military service. Troy was finally scheduled for a colonoscopy 2 months later. Having had a negative FIT screening test in the past, colorectal cancer was not in mind for Troy and Jodi, but the senior doctor in the recovery room told them, “We found a tumor”. They were unable to get the colonoscope past the mass. Because of the severity of the blockage, Troy had surgery ten days later, and stage III colorectal cancer was confirmed.
As Troy recovered from surgery, the couple dove into learning everything they could about his upcoming chemo, its side effects, and how to prevent them. Troy says, “I knew it was going to suck, I was kind of prepared for that.” Jodi researched icing protocols to prevent peripheral neuropathy from oxaliplatin and mouth rinses to prevent mouth sores from capecitabine. Troy began his first cycle, an oxaliplatin infusion and 2 weeks of capecitabine pills. “I felt so bad, I didn’t get out of bed for 9 days, it was brutal,” says Troy. Jodi adds that at first, “We thought “no pain, no gain”. That’s what chemo is. But I knew, something’s not right.”
Jodi was tireless in her efforts to find out why Troy was having such terrible symptoms. The night before his next infusion, just as she was about to put down her phone and go to bed, Jodi came across a comment in an online forum asking about DPD deficiency testing. She discovered the website of Advocates for Universal DPD/DPYD Testing and recognized Troy’s symptoms. “This is it! This is 100% - this is it.” She went on to read the devastating stories of patients with DPD deficiency who died from the toxicity of capecitabine and fluorouracil because they lacked the enzyme, DPD, that would break down those drugs in their bodies.
At Troy's appointment the next day, Jodi asked his team if he had been tested for DPD deficiency. She was told it wasn’t indicated, and that Troy’s lack of mouth sores did not line up with having DPD deficiency. Jodi was sure that the mouth rinses Troy had been using to prevent mouth sores were working, masking this important symptom of DPD deficiency-associated capecitabine toxicity. Jodi spoke up, suggesting that the severity of Troy's symptoms may also appear reduced due to his unusually high pain tolerance and excellent physical fitness, and asked that he have DPD testing anyway. The team agreed, the DPD deficiency test was ordered, and together they decided to give Troy another week of recovery between cycles, and to reduce his chemotherapy dose because of intolerable side effects.
A week later, Troy began his second cycle with the reduced dose. The following day, Troy received a call from his oncology team. His testing showed that he has intermediate DPD deficiency. His body has a reduced ability to break down capecitabine, leaving him with dangerous amounts of it in his system. Troy’s dose needed to be reduced even further to prevent a further severe toxic reaction. Troy notes, “I couldn’t advocate for myself. Without Jodi, I would have been dead, for sure. Not a doubt in my mind.”
Troy’s chemotherapy proceeded with a reduced dose of capecitabine, and he is now “NED”; he has no evidence of disease. But DPD testing was not the only biomarker testing Troy had, and his other results have also changed his care. Troy’s colorectal cancer has a mutation in the BRAF gene which means he has a higher risk of his cancer returning. Now that they have that information, Troy’s team has planned his follow-up care to include more frequent monitoring, including imaging scans, blood tests, and colonoscopies to look for any sign of the cancer recurring. Metastatic colorectal cancer patients who have Troy’s particular BRAF mutation, known as V600E, may be eligible for targeted therapy with a BRAF inhibitor drug.
On their experience with biomarker testing, Jodi starts, “You’ve just got to ask the questions. Knowing your subset and knowing that every single cancer is different...” and Troy finishes, “Knowing your cancer is critical.”
A routine colorectal cancer screening changed Dan Shockley's life, uncovering hundreds of precancerous polyps and a rare hereditary condition. His story shows how early detection and informed care can prevent cancer.
"We have two choices. We can react, or we can respond."
Dan Shockley, a U.S. Navy veteran of three conflicts, had a routine colonoscopy for colorectal cancer screening at the then-recommended starting age of 50. That screening changed everything. Dan’s doctors discovered hundreds of polyps throughout his colon and rectum. They suspected that a hereditary syndrome may have caused these precancerous polyps, which if left untreated, would become colorectal cancer.
Dan’s immediate instinct was to rush towards treatment. He says, “I wanted to get the surgery, get it done as quick as possible.” His team recommended that he have genetic testing. Dan’s curious and positive nature, coupled with his military background, helped him wait for the facts and gather more information. “We have two choices. We can react or we can respond. My military background equipped me to respond by gathering information so I can make a logical decision.” Dan did not have cancer so there was no urgent testing order and turnaround times for testing were considerably longer in 2011, so he had several weeks to read credible resources and talk extensively with his gastroenterologist, genetic counselor, colorectal surgeon, and the chief of surgery. After germline genetic testing, Dan was diagnosed with attenuated Familial Adenomatous Polyposis, or aFAP.
Familial Adenomatous Polyposis and its subtype attenuated Familial Adenomatous Polyposis are inherited syndromes of high cancer risk. FAP and aFAP cause numerous abnormal growths, called adenomatous polyps, in the colon and rectum that will become colorectal cancer if left untreated. The timeline of polyp growth and cancer development is different in classic FAP and attenuated FAP. The average age of colorectal cancer is 39 years in patients with classic FAP. For attenuated FAP, the average age of colon cancer or rectal cancer development is 55. Dan’s polyps had been diagnosed just in time.
Armed with this knowledge, Dan decided to undergo total proctocolectomy with permanent ileostomy. This means his entire colon and rectum were removed, and an opening in the abdominal wall, called a stoma, was created. Dan’s ileum (the last segment of the small intestine) was connected to this stoma to create an ileostomy which allows his small intestine to pass waste out of the body. A removable ostomy pouch is attached to the skin around the stoma to collect waste for disposal.
Since his preventive surgery more than 13 years ago, Dan has not developed colorectal cancer. Removing the precancerous polyps and the organs in which they would have continued to occur has prevented colorectal cancer for Dan.
Dan has taken the acronym of the condition that changed his life, AFAP, and turned it into his life’s motto, Always Forge Ahead with Purpose. Since his diagnosis and treatment, Dan has become a fierce advocate for others in similar situations. He is an ambassador for the hereditary colorectal cancer community, the rare disease community, and the ostomy community, and he speaks to bring awareness and support to men’s mental health.
Dan continues to spread his message, “Stay positive, ask lots of questions, talk to your family, talk to your medical team, and research, try to obtain as much information as possible to prepare yourself.”
