Marian Kerr remembers her reaction when she underwent her first colon exam in 1997, at the age of 53.
“My doctor was giving the exam, and he just said, ‘There’s a polyp
Kerr, who runs a farm near Boise with her husband, John, told the doctor she simply did not have time for an operation. Besides, she felt fine.
A second opinion and a stiff warning that she likely had colon cancer persuaded her to have the surgery. But it was another medical diagnosis that made her realize just how lucky she was.
Kerr was the carrier of familial adenomatous polyposis, a rare inherited disease that causes hundreds of precancerous colon polyps. As many as 95% of people with untreated FAP die of cancer before their 50th birthday.
Remarkably, Kerr was cancer-free.
“I dodged a pretty big bullet,” she said.
So did her two daughters. The children of carriers of the disease have a 50% chance of having it. So after Kerr was diagnosed, she pushed her adult children to get tested. The youngest did not have FAP, but 31-year-old Theresa Cotner did.
Like her mother, Cotner was also cancer-free.
The condition’s rarity prompted the mother and daughter to go to the Huntsman Cancer Institute at the University of Utah for surgery, instead of staying in Boise. The women had their colons removed, with the small intestine rerouted to take its place.
And both decided they had an obligation to fight the genetic condition.
“I really feel that I was blessed with not being malignant for a reason: to educate and let people know that there are options open for this disease,” Kerr said.
Despite their lack of symptoms, Kerr and Cotner had physical characteristics that can indicate a problem with the gene that causes FAP. Each had small bone growths on their skulls or jaws and missing or extra teeth. When she was younger, Kerr had surgery to correct a too-long arm bone. The characteristics were so minor that mother and daughter simply thought they were quirks, never suspecting that they could signify a bigger problem.
About one in 25,000 Americans is diagnosed with FAP. By the time they have symptoms -- such as diarrhea, abdominal pain or weight loss -- many already have colon cancer.
Dr. Randall Burt, an FAP specialist with the Huntsman Cancer Institute, said he recommends that most of these patients have their colons removed by their late teens.
“Frankly, it’s not a good idea to wait until you have symptoms if this is in your family,” Burt said. “Patients can basically return to normal living after their colon’s removed, and the risk of colon cancer is eliminated.”
Burt, who treats Cotner and Kerr, was part of the team of researchers and geneticists who in 1991 discovered the genetic mutation that causes FAP. With the Mormon church’s extensive genealogical records, Utah is prime research territory for such inherited conditions.
“Some patients have been central to our key research because of their genealogical knowledge,” Burt said.
Kerr did not know if she was the first person in her family to develop the gene mutation or if she inherited it from her parents. She began researching her own genealogy and contacting relatives to tell them they should check for the gene.
She eventually traced it to her father’s side of the family, and found six family members who had died of colon cancer or were diagnosed with FAP. She suggested to other relatives that they might want to be tested for FAP.
Cotner, the daughter, searched the Internet for new treatments and promising drugs. Both mother and daughter also signed up for experimental drug studies.
For Cotner -- who is still battling several large but benign tumors in her abdomen -- the proactive approach was the only one she considered. The year before she was diagnosed with FAP, she watched her father die of diabetes after ignoring the disease for years.
“It’s far better to be a general in this fight than a private,” said Kerr. “Here I am, one of the few in the United States who has been diagnosed, and if we’re going to find something to help, then I guess it’s me who has to be out there. Somebody has to be a guinea pig.”