Persevering Through Change

The diagnosis of a hereditary syndrome that can lead to colorectal cancer—such as Lynch syndrome or familial adenomatous polyposis (FAP)—can be permanently lifechanging, counselors and patients agree.

In most cases, it means preventive surgery and ongoing checkups in an effort to detect and treat precancerous adenomas or cancers at the earliest stage possible, says Amie Blanco, the Gordon and Betty Moore Endowed Counselor of Hereditary GI Cancer Prevention with the University of California, San Francisco Cancer Genetics and Prevention Program.

“If someone is diagnosed with colorectal cancer and we identify that they have, say, Lynch syndrome, then they will need a colonoscopy every year for the rest of their lives,” Blanco notes. “By doing screening at that short interval, we can prevent a new primary cancer from developing in the patient.”

LONG-TERM EFFECTS

Georgia Hurst, of Chicago, lost her brother to colon cancer when he was 36 years old. She suspected that there was a genetic component to his cancer due to the early age of onset, and began having colonoscopies in her 20s. Genetic testing later confirmed Lynch syndrome, and Hurst underwent a preventive hysterectomy and oophorectomy, procedures that adversely affected her health for several months after.

“The negative effects of radical hysterectomy for prophylactic measures cannot be overestimated,” Hurst says. “This prophylactic surgery held negative implications for me. Before the surgery I was very healthy and vibrant. After my ovaries were removed, I became very sick and was out of sorts for about a year; it took a long time to find the right doctors who were willing to listen and help me, and to find the right amount of hormone replacement therapy to regain my health.”

Writer and book lover Georgia Hurst underwent a preventive hysterectomy and oophorectomy after learning she

had Lynch syndrome. Photo by Kelly Peloza.

Hurst’s genetic counselor helped her find a psychotherapist who treats individuals with genetic mutations, and Hurst occasionally sees her to discuss issues and anxieties related to having Lynch syndrome. She also frequently writes about such issues on her website and blog, ihavelynchsyndrome.com.

Indeed, almost any kind of preventive surgery can result in short-term and/or permanent side effects. Removal of the colon, for example, may mean the need for an ileostomy or related procedure, which can affect a patient’s stooling, among other complications. This type of surgery is delicate and complicated, notes Dennis Ahnen, professor of medicine at the University of Colorado’s Denver School of Medicine, and may also result in incontinence and sexual dysfunction if not performed correctly.

There also may be some dietary restrictions. “When you first come out of surgery and you don’t know what you can and cannot eat, it’s really scary,” observes Keira Berman, whose doctor told her of a fellow patient with FAP who had to undergo corrective surgery to his J pouch because he had clogged it with peanuts. As for Berman, she avoids foods with a high fat content, but has started adding items such as popcorn to her diet as her health has improved.

An equally important lifestyle issue affected by FAP was Berman’s desire to have a family. Concerned about passing on the genetic defect to her children and affected by related health issues that would have made pregnancy difficult, she and her husband decided to have a child with a surrogate. “My husband has always been very supportive,” Berman says. “When I told him that there would be issues with me having children, his answer was, ‘There are lots of ways to have a family.’”

THE POWER OF HOPE

It’s important that individuals diagnosed with a hereditary syndrome that can lead to colon cancer maintain hope, experts suggest. “Finding out that you are at increased risk for cancer because of an inherited condition is not a death sentence,” Blanco points out. “It does not mean that cancer is inevitable.”

Hurst agrees. “I have Lynch syndrome, but I have never had any cancers,” she says. “I am currently 44 years old and am very healthy. However, I am exceptionally vigilant about my health and annual screenings.”