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Thursday, March 28, 2013

Colorectal cancer a family affair

As published in the Washington Observer-Reporter.

For the first 12 years of his life, Hector Riva belonged to a family like any other, until a pattern began to emerge.

The pattern was a genetic one, though this detail would elude the family's doctors for some time since the year was 1957, and the discovery of DNA had just celebrated its fourth anniversary.

The pattern involved colorectal cancer marching down Riva's family tree to the quick tempo of a silent cadence, claiming a few lives along the way.

"I knew a problem with the bowels ran in the family," said Riva a 68-year-old Monongahela resident, "But, I didn't know the cause."

Riva's wife, Carol Riva, attributes that hazy understanding not only to the lack medical technology but also to the culture of the time.

"Our parents told us a little more about the family history as we got older," said Carol, "But, back then, you didn't talk about that stuff."

Even without genetic tests or a perfect understanding of his family history, Hector knew enough to place a colonoscopy--the diagnostic tool of choice for the surveillance of colorectal cancer--on his mental to-do list.

Hector, like many men, was reluctant.

"I said I would wait around until a sign came--some blood (in my stool) or something like that," said Hector, "Which I didn't realize at the time would have been too late."

In addition to blood in the stool, changes in bowel habits, weight loss, persistent abdominal discomfort, weakness and fatigue are all potential symptoms of colorectal cancer.

Hector had decided to wait for a sign, but fate had other plans.

In 1996, when Hector was 52-years-old, he was lucky enough to develop a hernia.

After learning of his family history, the surgeon slated to perform Hector's hernia repair refused to perform the surgery until Hector agreed to a colonoscopy, which involves a scope of the lower digestive tract, beginning with the rectum and advancing through the large intestine, also known as the colon.

The ten pre-cancerous polyps that were removed earned Hector a yearly appointment for a scope of his rectum and colon. Each of the next four years brought the discovery of 14, 75, 0, and then hundreds of polyps, respectively.

Those polyps also brought the family's multi-generation battle with colon troubles to light. They were afflicted with a rare condition called familial adenomatous polyposis, or FAP, characterized by the presence of hundreds-to-thousands of benign polyps (or growths) in the large intestine and an early onset with 95-percent of affected people developing polyps by age 35.

The term "benign" is rather misleading, however. Though not cancerous from the outset, there is a 100-percent chance that the polyps will develop into cancer if the the colon is not surgically removed in those with FAP, a procedure Hector endured in his late-50s.

In the Riva family, however, colon removal is the norm. Hector and his three sons have all had their small intestine connected directly to their rectum in order to live colon, colostomy and, hopefully, colorectal cancer-free.

While the Riva's variant may be rare, colorectal cancer is the second most common type of cancer in Pennsylvania, with 150,000 Americans diagnosed with the disease each year.

The prevalence of colorectal cancer is countered by a fortunate truth of modern medicine: It is also one of the most preventable forms of cancer, where up to 60-percent of all cases can be avoided with proper screening--a piece of information which earns a special amount of advertisement during March, National Colorectal Cancer Awareness Month.

What makes colonoscopy the gold standard for detecting colorectal abnormalities?

Dr. John Hauser, a board-certified gastroenterologist in Monongahela, explains it this way: "Accuracy…assuming it's in the hands of a professional that's trained and does colonoscopy for a living," said Dr. Hauser. "There are some people out there in the community that dabble in it, that don't do it well and don't do it right."

Someone qualified to do colonoscopies, according to Dr. Hauser, is either a board-certified gastroenterologist or colorectal surgeon who has been trained in colonoscopy during their surgical residency. It's someone who can guide a scope all the way to the beginning of the colon at least 95-percent of the time.

For those without a family history of colorectal cancer, screening should begin at age 50, with repeat screenings every 10 years if the previous test was clear.

If there are one or a few "sporadic" cases in the family--meaning, the cases aren't believed to have a genetic cause--screening should begin at age 20-25 or 10 years before the earliest age of onset in the family, whichever comes first.

Scientists have pinpointed a the gene responsible for FAP, and are now able to test the youngest generation of afflicted families with a simple blood test. With its inheritance in a dominant pattern, there is only a 50-percent chance that an individual in an affected family will inherit the gene, but a 100-percent chance they will endure its effects, if inherited.

For FAP families, testing begins at age 10-12 and includes a one-time genetic blood test and yearly colonoscopies, which is just fine with the Rivas.

"If they can be genetically tested and help other people," said Carol, "That's the greatest thing going."

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