By Peggy Conrad, MS, CGC

Reviewed by Miriam Komaromy, MD
Last updated August 4, 2000

Roger Kettering has a lot on his mind. At 23, his life is full and promising. His graduate studies in architecture keep him busy, and his girlfriend Alison makes certain he has an active social life. They plan to marry and start a family as soon as Roger finishes school. He is excited about their future together, but worries about his family history of familial adenomatous polyposis (FAP). His mom, Gwen Lahey Kettering, like many other members of her family had FAP, and died from colon cancer when Roger was just six years old.

Roger's mother died of cancer when he was six. He worries whether someone else in his family will get cancer.

Roger doesn't remember much about his mother's illness. He remembers it was a sad and scary time. Roger's loss of his mother was soon compounded by the unexpected departure of his father, Ned Kettering, who was unable to cope with the loss and responsibility of two young children and left the family soon after Gwen's death.

Roger found out from his aunts Mary and Cecily that the hereditary colon cancer syndrome — FAP — runs in their family.

Cecily and Mary say that it all began when Gwen's doctor told her that she had FAP, and inherited condition that causes many polyps to develop in the colon. The colon cancer developed from one of the polyps in her colon. Colon cancer wasn't new to the family, but this was the first time anyone had given a name to what Cecily called the "awful curse" that affected the family. Gwen's dad, Steve, and maternal aunt both died from colon cancer back in the 1950s, but the doctors at that time never suggested that heredity played a role.

Roger's Aunt Cecily recalls that during a routine gynecologic examination at age 28, the doctor found blood in Gwen's stool sample. Following a colon exam (sigmoidoscopy), Gwen was horrified to learn that her colon was "full of polyps," and that she had advanced colon cancer. To make matters worse, their family doctor, Dr. Edgars, called Cecily and Mary and told them that Gwen's disease was hereditary, and that they could have it too.

Roger's aunt Mary also had colon polyps (and thus FAP), but aunt Cecily did not.

More on Genetics of FAP

Mary went on to have surgery to remove her colon at age 26, and she hasn't looked back since. Thinking back, Aunt Mary remembers the surgeon removed most of her colon, but left in the last part called the rectum. Because the doctors

Aunt Mary had surgery to remove part of her colon, and has annual screening for polyps.

worried that she could continue to develop polyps in the rectum, they insisted that she have yearly exams.

Every year they find and remove more polyps. However, Mary really doesn't mind enduring the yearly exams; she knows that the alternative surgery — where they remove the entire colon — would leave her with an ileostomy. With this procedure, the body's waste products leave the body through an opening in the skin on the abdomen and empty into an external plastic bag that is worn under clothing. Mary recalled that her father had this procedure a year before his death from colon cancer, and decided she'd do whatever it takes to avoid it. Mary admits, " The surgery I got didn't slow me down for long." Mary married Tom, a local restaurateur, and their lives have been busy raising three children and running three restaurants.

Both Mary and Cecily worried about Gwen's kids, Roger and Susan. Dr. Edgar said that just like Mary and Cecily, both children of Gwen were at 50 percent risk for developing FAP. They would need regular colon screenings to check for polyps.

Although Mary is the family expert and has had all the practical experience with the FAP, she gets very upset when the conversation turns to the subject. She says she knows she's the lucky one, but it only reminds her about Gwen's death and the risk to her own children. Roger isn't a stranger to this kind of thinking; his own sister, Susan avoids the subject too. Aunt Cecily, on the other hand, has more time on her hands, and she makes a point of staying up to date on everything related to FAP. Cecily likes to solve dilemmas, and Roger thinks it's just her way of being involved in their family's personal dilemma, FAP.

Roger, and his fiancee Alison, have started wondering what the risk of FAP will be for their future children.

Earlier in Roger's life, at Aunt Cecily's insistence, Roger had undergone a sigmoidoscopy. He was 15. He was relieved that no polyps were found then, but the doctor warned him that he needed to be examined yearly. Roger now admits, "I've been really bad about getting the screening exams, but I have a hundred reasons to keep putting it off. Mostly its because I'm too busy and I feel fine." Angrily, Cecily scolds him about the feeling fine part; she reminds him painfully that his mother felt fine too when she received her cancer diagnosis.

In order for anyone in the family to benefit from genteic testing, Mary needed to be tested first, because she was already known to have FAP.

Mary's own children were having the same problem as Roger. They complained, like Roger, that they felt fine, and couldn't see the logic in going for what they called, "those nasty colon exams." Mary was tired of hounding them about it. She needed to know, once and for all, who, if any of her kids, inherited FAP. Taking the test seemed like the logical thing to do. She was thrilled that the information would be helpful for Roger and Susan too.

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More on Genetic Testing for FAP

Mary's test was positive. That allowed Roger to be tested and find out that he did not carry the FAP gene.

Roger's sister Susan was much more reluctant to undergo genetic testing, but eventually she did and found out that she had inherited the FAP gene.

Susan had a lot to learn over the next six months; she had important decisions to make. She knew that surgery to remove her colon was essential to reducing the risk for cancer. But, things had changed since Aunt Mary's surgery more than 20 years ago. Now surgeons could effectively remove her colon and rectum and create an internal pouch to serve as a storage reservoir for waste -sort of the way the colon does.

Susan weighed her options and decided to undergo a relatively new preventive surgical procedure.

Although Susan would still have to go for yearly exams, the exam would be minimal and the risk for polyps or cancer in the rectum would be greatly reduced. This more extensive surgery is frequently recommended for people with FAP, and Susan thought it might give her peace of mind in the long run. Because the procedure was somewhat new though, she was very cautious. She carefully selected a surgeon with experience doing this special procedure. Susan's eventually decided to have the new procedure, after doing careful research to identify both a surgeon and gastroenterolgist with experience doing the surgery and dealing with FAP. This was comforting news for the whole family.

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More on Surgical Options for FAP

Susan would not be the only one to benefit from her efforts to learn more about the current treatment of FAP. Her young cousin, Jeff was about to learn that he too had positive genetic test. Jeff was only 14, but his mother Mary and Aunt Cecily had been hounding him, and his siblings, to have their first colon exam for over two years. Until now, their efforts were fruitless. Knowing the genetic mutation in the family offered another option and Jeff elected to have genetic testing to see if he really needed to have the colon exams after all. Charles and Brenda, Mary's two older children were still undecided. They watched from the sidelines as their little brother learned his fate.

Roger's young cousin, Jeff, also tested positive for the FAP gene. He is enrolling in a clinical trial of a new drug that could put off the need to have preventive surgery for a few years.

Not long after Jeff learned that his test was positive for FAP, Mary took him for his first colon exam. With Susan's new resources, they found a gastroenterologist at the local university hospital with experience in caring for patients with FAP. The doctor suggested that Jeff have a full colonoscopy as his first exam. By getting a good look at the entire colon on the first exam, the doctor explained to Jeff that he could get a more thorough view of the number, size, and locations of polyps in the colon. This information would help Jeff and the doctor decide if surgery was necessary immediately or could be postponed.

As Jeff was just preparing to enter high school, he was hopeful that he could postpone the surgery until after graduation. Luckily, Jeff had just a handful of polyps, and he was relieved of having to make an immediate decision to have surgery. The doctor advised Mary about a new aspirin-like drug that might slow the growth of the polyps. The new drug had not yet been tested in children Jeff's age, but the doctor was confident that it might slow the polyp growth long enough for Jeff to finish school before undergoing the necessary surgery.

Jeff would have to enroll in a clinical study that was being conducted at the university, and he would be carefully monitored with regular screenings to make certain that the polyps were not getting out of hand. Jeff and Mary both knew that the new drug was not a cure for FAP, but they were happy that there was some new promising research that might offer some benefit.

Roger Kettering still has a lot on his mind, but things are different now. He's been relieved of worry about having polyps, and he worries less about his sister. Hunting for a job can take his time now, while Alison is busy planning the wedding. Aunt Mary and Uncle Joe have offered to cater the affair, and as expected, Cecily has taken on the role of wedding consultant. Roger thinks his mother would be proud of how her family has handled things since her death. "Mom's probably most glad that Aunt Mary survived to show all of us that there IS life with FAP, and that Cecily is here to tell all of us what to do."