Shauna Monagan spent 5½ months in and out of a Rochester hospital with a variety of ailments that confounded doctors.
They knew that something was seriously wrong, but what?
Some of the symptoms pointed to thyroid cancer, so her family turned to Roswell Park Cancer Institute. When her surgeon removed Monagan’s thyroid, he expressed concern about the unusual variety of cancer he found in the then-19-year-old. Genetic testing followed, and confirmed that Monagan had a gene mutation that predisposed her to a hereditary colon cancer called familial adenomatous polyposis, or FAP.
Dozens, if not hundreds, of polyps can develop in the colons of those with FAP. The lifetime likelihood of colon cancer for those who carry the gene mutation is nearly 100 percent. There also is a 50 percent chance that each child of someone with the gene mutation can have it passed on to them.
“Shauna’s a hero,” said Monagan’s mother, Suzanne Pilon, who also has three other children. “It was a huge blessing to get the diagnosis because now we can be proactive with it, as opposed to having symptoms develop and finding out later we have Stage 2 or Stage 3 cancer, or something worse.”
Pilon will share her family’s story during Hereditary Colon Cancer Family Day, which will run from 9:30 a.m. to 5 p.m. Saturday, Oct. 22 at Roswell Park. Those interested in the free event can register by calling 312-560-5830 or sign up online at hcctakesguts.org.
FAP is caused by one of about a dozen known genetic mutations tied to hereditary colorectal cancer. Hereditary causes account for 5 to 10 percent of most cancers, including colorectal, Roswell Park genetic counselor June M. Mikkelson said. Those causes can run rampant through some families, however.
Pilon, 54, also tested positive for the gene mutation, but because of where it landed on her APC gene, it behaved differently than in her daughter’s case. Her lifetime colon cancer risk still remained extremely high.
“A gene is like a book of information,” Mikkelson said. “In people with FAP, depending on where that mutation occurs – that error in the gene – it can cause different symptoms. So some people like Suzanne develop their polyps later in life and have a lower burden. Some people have a higher risk for thyroid cancer or one of the other health concerns associated with FAP.”
Each of Pilon’s other children – now ages 28, 25 and 18 – tested positive, too. Each family member has since undergone surgery that removes the colon and attaches their small intestine to the rectum, Pilon said. The procedure comes with complications of its own. Pilon was an elementary school teacher before her surgery but lost her job because she needs to take frequent trips to the restroom.
Still, she and her children – who all live in suburban Rochester, choose to look at the bigger picture.
“Compared to having cancer, this is not that difficult to deal with,” Pilon said. “There’s ups and downs, but facing colorectal cancer is completely different.”
She and her children plan to attend Hereditary Colon Cancer Family Day. They have not yet met others with similar conditions – though Pilon has talked by phone with Hereditary Colon Cancer Foundation leader Travis H. Bray.
“There’s going to be more people without their colons than have their colons,” Pilon said, “so that’s going to be neat. For my children, having other folks their age will be awesome. It’s going to be cathartic for us.”
Twitter: @BNrefresh, @ScottBScanlon