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Case Study: The Kettering Family
Peggy Conrad, MS,
by Miriam Komaromy,
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
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.
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
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?
mother died of cancer when he was six. He worries
whether someone else in his family will get cancer.
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.
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.
found out from his aunts Mary and Cecily that the
hereditary colon cancer syndrome FAP
runs in their family.
and Mary say that it all began when Gwen's doctor told
her that she had FAP, and inherited condition that causes
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.
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.
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."
aunt Mary also had colon polyps (and thus FAP),
but aunt Cecily did not.
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
that she could continue to develop polyps in the rectum,
they insisted that she have yearly exams.
Mary had surgery to remove part of her colon, and
has annual screening for polyps.
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.
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
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
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
and his fiancee Alison, have started wondering what
the risk of FAP will be for their future children.
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
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.
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.
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.
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."
test was positive. That allowed Roger to be tested
and find out that he did not carry the FAP gene.
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."
sister Susan was much more reluctant to undergo
genetic testing, but eventually she did and found
out that she had inherited the FAP gene.
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.
weighed her options and decided to undergo a relatively
new preventive surgical procedure.
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
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.
Testing, Children, and FAP
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.
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.
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.
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.
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.
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.
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."
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.
image to open larger view in another window
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.
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
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
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