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FAP
  A Case Study: The Kettering Family

By Peggy Conrad, MS, CGC

Reviewed by Miriam Komaromy, MD


 

Although the characters in the following case study are fictional, this case study highlights the real worries, fears, and triumphs of families who deal with this hereditary colon cancer syndrome.

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.

What is Familial Adenomatous Polyposis? Familial adenomatous polyposis (FAP) is a hereditary condition that causes the growth of multiple (hundreds to thousands) of polyps in the colon usually beginning in the early teen years. Without treatment (removal of the colon) the risk for colon cancer is nearly 100%.

 

 

Roger's mother died of cancer when he was six. He worries whether someone else in his family will get cancer.
Roger worries about himself, his sister Susan and the other younger members of his mother's family. He should be having regular colon screenings, but he just can't get around to it. He wonders who's next to get colon 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.
Roger and his sister, Susan, soon found themselves in the care of their two aunts, Mary and Cecily. This was a warm and happy place to be, and it was here that Roger learned of the Lahey family's history of colon cancer. FAP had become a household word after his mom died, and he knew the stories well.

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.
Mary recalls Dr. Edgars very words, " Just like your father's smile, you may have inherited the polyps (that lead to cancer) that Gwen did." They were both so young — in their mid 20s — it seemed impossible. Reluctantly, both had colon exams (sigmoidoscopies). Mary learned at age 24 that she too had inherited the polyps. Cecily did not. Mary remembers the day she learned the hard news. "I felt I was doomed," she says, "my sister Gwen was dying from colon cancer and they tell me I have the same thing. This must just be a bad dream. Lucky for me, though, I only had the polyps-no cancer."

 

 

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.
Recently Roger consulted Aunt Cecily. He knew it was time he had his colon examined for polyps again. As if he didn't have enough on his mind already, another question was haunting him too. While he and Alison were talking about their future together, Alison wanted to know if their children were at risk for FAP too. He knew he could no longer put things off.

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.
Cecily knew that a genetic test was available that might be helpful in determining which members of the Kettering family inherited the gene that causes FAP. Since Mary had already been diagnosed, she would have to be tested first. Genetic testing should always begin with a family member who has a very high likelihood of having a mutation if one is detectable in the family.

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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Mary's test was positive. That allowed Roger to be tested and find out that he did not carry the FAP gene.
Mary's test showed just what everyone expected — that she had a change in a gene (the APC gene) that caused FAP. Deciding to be tested to see if he had the same change in the gene was an easy task for Roger, but he complained about his sister's response, "Susan has her head in the sand about the whole thing, and she's old enough to know better." Susan was refusing to get either the genetic test or have her colon screened. Roger resented worrying about her; he had enough to do worrying about himself. The test was a simple blood test, and in three weeks, Roger had the news. He was relieved to learn that he did not inherit the change in the gene that caused FAP in the Lahey family. He was jubilant, but he says he immediately began to feel just like aunt Cecily, " I'm definitely off the hook, but now I have to worry about the rest of the family."

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's decision to be tested took another year. Her life took a serious turn when her best friend Karina was seriously injured in a car accident. Susan watched her friend struggle to recover from serious injuries that caused permanent brain damage. Strangely, Susan's personal decision to learn if she had FAP now seemed simpler. Her decision to have testing happened almost overnight. The test showed that Susan inherited the change in the gene. She had FAP. She says today, "Watching Karina gave me courage to face things in life and do the best I can. I know I can't take the gene away, but I can do everything possible to keep from getting cancer like my Mom did. Before I took the test, I knew I would have to cope the result - good or bad."

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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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.

Genetic Testing, Children, and FAP
As a rule, genetic testing of children for adult onset conditions is not appropriate or advisable. The decision to learn about one's genetic status and potential for developing a future disease condition is a very personal one. Because most inherited adult onset diseases present little or no risk to children under age 18 years, the decision to undergo genetic testing can be postponed until the child reaches adulthood. At that time, the young adult can make a personal, informed decision about genetic testing.

But FAP is an exception to that rule. Because cancer can occur in a person with FAP before they reach adulthood, and colon screenings to look for polyps are recommended to begin before adulthood, genetic testing is considered appropriate for children at risk for FAP beginning at age 10 years.

 

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."

Who is at risk for FAP in the Kettering family? Children of affected parents are each at 50% risk for developing FAP. So in this family, Gwen's children, Roger and Susan are at risk, and Mary's children, Jeff, Charles, and Brenda are at risk.

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Why aren't Cecily's children at risk?
Cecily has had regular colon exams since her sister was diagnosed many years ago. If Cecily did carry the gene, the likelihood that she would have polyps by this time is almost 100%. Because her colon exams have never revealed any polyps, we know that it is highly likely that she did not inherit the mutation that causes FAP in this family. If Cecily does not carry the mutation and does not have FAP, she cannot pass it on to her children. Genetic testing for Cecily is not necessary, however, she may wish to have the test for further reassurance.

What about the children of Gwen's aunt Maude? Shouldn't they be contacted?
Yes, when a genetic mutation is identified in a family, this information can be very valuable for other family members (as has been illustrated in this story). Gwen's aunt Maude's children and grandchildren are at risk for FAP. Because colon cancer is a preventable disease, sharing this information has the potential to save lives. If family members with whom contact has been lost can be located, the information should be shared with them.

What if they didn't find the change in the gene when Mary was tested?
About 20% of people with FAP do not have an identifiable mutation in the APC gene. It may be that a mutation exists in the APC gene, but current testing methods fail to detect it. Alternatively, some families with FAP may have mutation in other genes for which testing is not yet available. If a mutation is not identified in a family member with FAP, no further testing of family members will be helpful. In the absence of a genetic test result, all at-risk family members must undergo early and regular screening to look for the polyps associated with FAP. Another, alternative method for determining who has inherited FAP in some families includes a thorough eye exam to look for the presence of a structural eye abnormality called congenital hypertrophy of the retinal pigment epithelium (CHRPE), that is present in about 20% of all people with FAP.

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