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Peggy Conrad, MS,
by Miriam Komaromy,
Emerson is downright gleeful and brags to her family
when her doctor tells her that her colonoscopy is negative
for polyps or cancer. With so much colon cancer in her
family, she feels like a clean colonoscopy report gives
her a new lease on life. Her father and paternal grandmother
both died from colon cancer, as did one of her father's
brothers. She helped to care for her father before his
death, and her concern that she and her family members
could get this cancer too keeps her going to the doctor
for colon screening exams every three years.
concern about cancer in the family first started when
her father was diagnosed with colon cancer. Hal Redson
was almost 80 years old when he became ill. He'd been
ignoring symptoms of rectal bleeding for at least a
year until Madelyn insisted he go to the doctor. His
illness came as a great shock to the family because
as Madelyn says, "He was always as strong as two oxen."
Redson family started buzzing about why colon cancer
seemed to be zeroing in on them.
Hal's brother Robert had died from colon cancer just
two years earlier at the age of 69, the family started
buzzing about why colon cancer seemed to be zeroing
in on them. Hal remembered that his mother, Sarah, had
also died from colon cancer in her early 60s, back in
the days when cancer in families was not often discussed.
Hal did remember that Sarah had some kind of abdominal
surgery that left her with a colostomy bag for many
years before she passed away. Madelyn suspected that
this must have been colon cancer too. Old Hal's memory
was fading, but he also had a vague recollection of
his mother caring for her older sister Emma whom he
thought may also have had some kind of "abdominal cancer."
could this all mean? Madelyn was puzzled and frightened
as she pieced together the family history of colon cancer,
but it was becoming clear to her that there was a pattern
emerging. Hadn't her own brother Hal, Jr. been found
to have precancerous polyps just last year when he had
a sigmoidoscopy at age 49? She wondered who would be
next. Was she at risk? What about her two sons, her
cousins and all the nieces and nephews in the Redson
family. More importantly, what could they do to prevent
getting colon cancer? She had read in the New York
Times science section about genes that increase
a person's risk for cancer. Maybe there was a gene test
that can explain what was going on in her family. Overwhelmed,
Madelyn tried to put it out of her mind.
pattern of cancer in Madelyn's family was suggestive
of a hereditary colon cancer syndrome.
cancer was the last thing on Madelyn's mind when she
went to the hospital for her yearly mammogram. At age
59, this had become a regular event on her healthcare
schedule. To pass the time while sitting in the waiting
room, she picked up a brochure with a striking headline,
"Is There Cancer in Your Family?" Madelyn's heart sank;
she already knew the answer to that question. She read
on to confirm her suspicions and learned that the pattern
of cancer in her family was suggestive for a hereditary
colon cancer syndrome.
brochure recommended genetic consultation for any person
who had two or more relatives with colon cancer. Madelyn's
brother, Dennis, had told Madelyn about a new hereditary
cancer program at the local university designed for
individuals and families at increased risk for cancer.
She decided to make an appointment with their genetic
counselor to discuss the family history; she'd take
Dennis along for support. While she waited the two weeks
for the appointment, her anxiety and fear of colon cancer
was overwhelming. Some days Madelyn was utterly convinced
that she too would get colon cancer. Even worse, some
days she thought that perhaps she already had colon
cancer. She did not expect any good news.
and Dennis met with a genetic counselor, Stephanie
Miller, to discuss their family history.
weeks later, Madelyn and Dennis met with cancer genetic
counselor, Dr. Miller. Dr. Miller had a million questions
for them as she drew a family tree. Who had cancer,
what cancers, at what age, and for those who had died,
how did they die? She wanted to know about all the major
medical illnesses in the family. Who had major surgeries,
who in the family was getting regular colon screening,
and did they have any colon polyps? Dr. Miller also
wanted to know about the other people in the family
that were alive and well. She also asked where the ancestors
on both sides of the family had originated before coming
to America. Dennis had traced the family's history back
to Ireland on the Shaughnessy side, and western Germany
on the Redson side, so he eagerly volunteered this information
although he couldn't imagine why it was important.
could see the pattern of colon cancer marching through
the generations of their family.
course, Madelyn knew more than Dennis about all the
medical things because she was the one in close touch
with almost everyone in the family. Dennis called her
"the busybody everyone has to like." Just talking about
all the cancer in the family saddened Madelyn; it reminded
her of how sick her father had been before he died,
and the grief the family shared about losing their cherished
Uncle Robert. Sitting there made her think it would
happen all over again. They both watched as Dr. Miller
drew the family tree, drawing lines through those who
died and coloring in the circles and squares to show
that colon cancer was the culprit. Patiently waiting
for her to finish, they too could clearly see the pattern
of colon cancer marching from one generation to the
next on the page. Madelyn dreaded what the counselor
might tell her when she finished drawing the family
explained that the more relatives you have with
colon cancer, the greater is your risk of developing
Miller used the tree to explain what was going on in
the Redson family. She explained that yes, there was
definitely too much colon cancer happening in Madelyn
and Dennis' family, but that the family probably did
not have one of the known hereditary colon cancer syndromes
(HNPCC or FAP). Rather, she explained, the Redson family
tree suggested a pattern called familial colorectal
cancer. She didn't need to point out to them that numerous
people in the family had colon cancer, but she did point
out what features of the family tree suggested familial
colorectal cancer as a diagnosis. First, both Madelyn
and Dennis have two first-degree relatives who had colon
cancer or polyps (their father Hal, Sr. and their younger
brother Hal). In addition, there are other biological
relatives who have had colon cancer. She explained that
generally the more relatives one has with colon cancer,
the greater the risk to oneself.
Versus Hereditary Colon Cancer:
of a familial pattern of colon cancer include multiple
(two or more) family members with colon cancer developing
later in life, usually after age 60. In contrast,
the pattern of cancer in families with the hereditary
colon cancer syndrome HNPCC include multiple family
members with colon cancer developing at early ages,
frequently in their 30s and 40s, and with other
HNPCC-related cancers also occurring in the family.
Another hereditary colon cancer syndrome, FAP displays
a similar family pattern of multiple family members
developing colon cancer early in life.
people in the Redson family developed colon cancer later
in life, this also indicated a familial pattern, as
shown on the family tree. Dr. Miller explained that
in the known hereditary colon cancer syndromes
HNPCC and FAP family members tend to get colon
cancer very early in life; sometimes in their early
30s and 40s. This definitely wasn't the case with the
Redsons. Another thing about the Redson pedigee
a good thing Stephanie pointed out is that there
were many people in both generations who lived long
lives and did not get colon cancer. This too was suggestive
of a familial pattern and not one of the known inherited
colon cancer syndromes.
Miller explained that scientists currently believe that
familial colon cancer is likely passed from one generation
to the next like the other well known syndromes, but
that environmental factors may also play a role in how,
when, and if the colon cancer develops.
cancer is inherited, but environmental factors also
play a role in how, when, and if cancer develops.
went on to explain why she was interested in the Redson
family's ethnic origins. For families with familial
colorectal cancer patterns who are of Ashkenazi Jewish
origin, genetic testing is available because at least
one of the genes responsible for familial colon cancer
has already been identified.
Miller couldn't offer Dennis and Madelyn a genetic test,
but she presented them with a colon cancer screening
plan. Because people with familial colorectal cancer
may be more likely to form polyps, and those polyps
may be more likely to grow into colon cancer, regular
and earlier colon cancer screenings are recommended
for families like the Redsons. And because some researchers
have found that the colon cancers that do occur in families
with familial coloon cancer are more likely to occur
on the right side of the colon, Dr. Miller recommended
that Madelyn, Dennis and other family members have colonoscopy,
a procedure that views the entire colon (link to colonoscopy)
every three to five years beginning at age 40, as opposed
to the standard sigmoidoscopy screening that only allows
doctors to view part of the colon.
is very good at finding and removing the polyps
that can turn into cancer.
Miller explained that these guidelines, based on expert
opinion, can vary slightly among different doctors and
professional organizations. Expert opinion simply means
that specialists in the field of inherited colon cancer
believe that by following these guidelines, colon cancer
may be prevented or at least detected earlier when it
is curable. Dr. Miller said, "Although there are no
long term studies that prove without a doubt that these
screening guidelines work to prevent cancer, colonoscopy
is very good at finding and removing the polyps that
can later turn into cancer. Early and regular colonoscopy
can be the most important and valuable weapon against
the colon cancer in the Redson family."
protested, "but, I hate drinking all the awful stuff
the night before. Isn't there another way?" Dr. Miller
agreed that many people dislike the colonoscopy preparation
(which requires drinking a gallon of solution to cleanse
the colon the night before the procedure), but admitted
that the short-term displeasure is well worth the comfort
gained from knowing you don't have colon cancer. Dennis
had to admit she was right. But he also knew that convincing
the rest of the family would take some doing.
felt empowered as they left Dr. Miller's office. She
dragged Dennis out of the hospital and into the pouring
rain in search of a quiet restaurant where she could
have a good cry and collect her thoughts. As she and
Dennis sat at lunch reviewing the events of the morning,
Madelyn was relieved but still anxious. She knew the
family's enemy better now, and she was convinced that
regular colonoscopy would be the family's best weapon
against it. But how would she convince the whole family?
Had would they take this scary information? Would they
believe it? Her biggest question was would they get
the necessary colonoscopies? She was glad that Dennis
had come along; he could share this big task with her.
and Dennis were eager to get the word out to the
rest of their family that colon cancer did indeed
run in their family.
and Dennis were both now eager to get the word out to
everyone as soon as possible. Dennis lamented that a
videotape of their appointment with Dr. Miller would
have been the perfect way to tell everyone what they
learned. They batted around the idea of sending everyone
a letter telling them what they learned and including
information from Dr. Miller about what to do about familial
colon cancer. In the end, they decided that the upcoming
Memorial Day weekend gave them a good shot at getting
almost everyone together at Dennis' house for an informal
backyard party. Dennis' wife Sharon was a professional
chef. No one ever turned down an invitation to a party
at Dennis' house.
was relieved...they had warned their family about
the threat of cancer, and had given them tools to
increase their chances of preventing the disease.
the Redson clan convened for a day of food and fun at
Dennis' house, Madelyn was intent on not spoiling the
festive mood with talk of cancer and colonoscopies.
Instead of a big announcement, she discreetly chatted
with each family member individually, sharing information
that she and Dennis had learned from their visit with
the genetic counselor. By mid-afternoon, everyone was
talking openly about it.
Robert's daughter, Alice, was surprised and relieved.
She had been ignoring her doctor's advice to have a
colonoscopy for more than a year. Learning about the
familial colon cancer in the family, now she knew the
threat was real. She'd be first in the family to schedule
also felt relieved. She and Dennis had done all that
they could do to warn and educate the family about preventing
colon cancer. Madelyn knew that her job to worry
and educate her family would never end, but she
was willing to take on the task. "Somebody's gotta
do it. I'd rather be preaching to them now about colon
screening than to lose them the way we lost Dad and
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