Staff at Salt Lake City-based techbio company Recursion recently heard from Jenny and Tim Jones about their challenging family history of familial adenomatous polyposis.
Most of the Recursion staff settled into the large steps of the company’s cavernous Salt Lake City headquarters, a former sporting goods store with a three-story rock-climbing wall. They’d gathered to listen to Jenny Jones recount her family and personal history of living with familial adenomatous polyposis (FAP), while the rest of their colleagues continued toiling away in the techbio company’s labs, where a potential treatment for that very disease had emerged.
Jones and her father Tim Jones offered a powerful reminder of why they were all there.
FAP is a rare genetic disease that causes noncancerous growths called polyps to develop in the colon and rectum beginning early in childhood. If left untreated, the polyps will form into cancer. The disease is caused by mutations of the APC gene.
The first battle for many patients, as the Jones family knows well, is getting diagnosed. As far as Jenny Jones knows, the disease traces back along her family’s Cherokee lines to her great grandparents in the 1800s. Her grandpa and aunt also had the condition. One cousin had their first polyp removed at 15. Another had their colon removed at age 27.
Jones’ grandfather never had preventative care, despite multiple cancers throughout his lifetime. He died at 81, but Jones believes he could have held on longer if his medical team had been more vigilant.
Her mother, whom Jenny affectionately refers to as Mama to protect her privacy, was the next in line. Mama assumed she would follow a similar path as her father before her, but the disease presented more slowly, Tim Jones told Recursion’s staff. It wasn’t until Jenny was born and Mama did not see her doctor again until three months postpartum that the disease boldly presented itself. Mama was diagnosed with colorectal cancer at 34. There were no scopes conducted or surveillance for polyps at that time—her mother simply found out once they had turned malignant.
“We didn’t know any better,” Tim Jones said. “It’s pretty darn obvious the doctors didn’t know any better.”
This was 1985. Her mother underwent two surgeries. She was released hours after the first one but suffered a complication and was rushed back for a second surgery. She spent 28 days in the hospital recovering.
Over the years, Jenny’s mother underwent multiple surgeries including the removal of her pancreas, gallbladder and bile duct. She developed short bowel syndrome—a condition Jenny Jones has too—which involves deficiencies in nutrient absorption after large parts of the small intestine are removed.
At 74, a large polyp developed in her mother’s bile duct. It had to be trimmed every three months. Her mother developed liver disease.
“We had no choice but to let her go,” Jenny Jones said. “Mom was a fighter.”
Mama hung on until Father’s Day 2024, living three days longer than the doctors had predicted. It also happened to be the beginning of FAP awareness week.
“She chose a really special day to die with her stubbornness,” Jenny Jones said. “She did not want to die.”
At the Recursion event, Jenny Jones asked her dad a tough question: Why have children if you knew about the history of FAP?
“Parents make really horrible decisions, but not on purpose,” he said. But they did assume that, if Jenny had FAP, her battle might be easier, he added.
That has not been the case so far. Jenny Jones began having chronic abdominal pain at 7 years old. She remembers a doctor telling her she was “whiny”—despite the verified family history of FAP. She was diagnosed with the disease at 8 and had her colon removed at 9. At 36, she had her gall bladder removed due to complications from FAP. During that procedure, her eighth surgery, her doctors found a polyp.
In the midst of her medical journey, Jenny Jones formed Life’s a Polyp to raise awareness of FAP and share her family’s story. She and her father still find it frustrating that she struggled to get diagnosed despite 100 years of family history.
“Over 100 years it’s gotten better, but still not where it needs to be,” Tim Jones said.
People without a family history of FAP might also be missing a diagnosis, as about 20%–30% of cases are spontaneous.
Besides the obvious physical battle, Jenny says she has experienced mental health challenges, medical PTSD and stigma surrounding her use of an ostomy.
“Not everybody develops medical PTSD, but I did,” she said. “I would like that taken away.”
In addition to her advocacy, Jenny Jones has taken a different, more powerful and emotional stand against her disease. She didn’t have biological children, vowing to be the last in the Jones line to have FAP.
Jenny Jones now considers her condition stable. She undergoes yearly cancer surveillance for FAP cancers and is on maintenance therapy. “I have to be very mindful to balance life, activity, and heath to reduce symptom flares as much as possible. I’m very lucky when I can go a whole week without any flares,” she told BioSpace.
Speaking directly to the Recursion team, Jenny Jones issued a challenge as she put down her microphone: “Let’s figure out how to turn that gene back on—or back off. I guess it needs to be turned off,” she said, to laughs from the gathered scientists.
With that, it was back to the lab for the Recursion team. The biotech’s MEK1 and MEK2 inhibitor REC-4881 is currently in Phase 2 testing, and while it doesn’t aim to shut off the APC gene, the therapy is meant to switch APC-deficient cells toward a healthy state. Early data has shown a 75% reduction in total polyp burden and a 43% median reduction in polyps after 12 weeks of treatment.
