Sidestepping your genes to live longer

In her personal life, Susan, 47, has an intriguing way of dealing with her feelings. "I give myself five minutes of emotion. I feel it for five minutes, and then I'm done," she said. She doesn't claim it's for everyone, but it works for her.

In her professional life, she counsels mentally ill individuals and their families almost every day. "I hold hope for those who can't do it for themselves," she said. "I serve as a bridge between patients and the clinical team," helping patients connect to professional and peer services that can help them live a better life.

She recently graduated from Arizona State University with a bachelor's of science degree in sociology and a minor in psychology. In January 2016, she started on an ASU master's degree with a long name: master of education in curriculum development and instruction with an emphasis on applied behavior analysis.

Hiding in plain sight

For the past several months, Susan has been dealing with a health crisis, one that she discovered is in her genes.

In June 2015, through genetic testing at the HonorHealth Virginia G. Piper Cancer Center, Susan learned she has familial adenomatous polyposis. That's a lot of syllables to say that your risk of colon cancer with this genetic disorder is 100 percent without treatment. The colon fills with polyps that eventually become cancerous. The treatment seems drastic, but it's effective — removal of the colon.

The fifth of six siblings, Susan lost her mother in 2000 at age 63 to colon and brain stem cancer. A sister died of lung and colon cancer in 2012. A brother received a stage 4 colon cancer diagnosis 2013.

Alarmed by the incidence of colon cancer in her family, Susan, in 2013 and 2014, had colonoscopies that included the removal of 77 noncancerous polyps. Many were the size of golf balls.

A year later, Susan visited certified genetic counselor Arlie Colvin at the center. After hearing Susan's family medical history, Arlie immediately suspected familial adenomatous polyposis. "I'd never seen a family tree like this one," she said. "I was confident she would have the mutation."

She asked Susan for saliva samples to send off for DNA testing. "And then I told her that this mutation would be a good thing to discover," Arlie said, "because she and her family would finally know what they were dealing with and could do something about it."

Mutation in every cell of her body

HonorHealth - Sidestepping Your Genes to Live Longer

Ninety percent of cancer is environmental; 10 percent is hereditary, she told Susan. "If you're born with a hereditary predisposition to cancer, you have a mutation in every cell of your body. You're more likely to get cancer."

"Arlie did a fantastic job of informing me over the three hours I spent with her," Susan said. "She's an amazing human being. She was gentle and kind. She was amazingly patient. She explored every worry and concern with me."

Three weeks later, the DNA test came back positive for a mutation in the adenomatous polyposis coli or APC gene. The APC gene mutation confirmed the diagnosis of familial adenomatous polyposis.

Susan's deceased mother appeared to be the carrier of the genetic disorder. The average age of cancer for someone with the disease is 39. Doctors recommend those with familial adenomatous polyposis have their colons removed in their 20s. So far, Susan had beaten the odds, but she knew she had to act.

Alerting her family

In between making doctor appointments, Susan advised her surviving siblings to be tested. "I was the first one in the family to catch the disease before it became cancerous," she said. Eventually, she learned that each of her siblings — each with a 50/50 chance — had inherited the disease. Their children now are being tested.

Susan's son, John, 27, serves in the Navy and has four children, three of them triplets. A DNA test revealed that John has the gene mutation.

"He took it like a champ; he's very logical," Susan said. "But it was so much harder receiving his news than it was mine. For me, it was almost exciting to learn about familial adenomatous polyposis and even to go through the surgeries. I'm glad I was strong enough to do it. But I've learned that it's tougher when it's your loved ones going through it."

Three months after Susan's genetic testing, colorectal surgeon Andrew Kassir, MD, removed Susan's colon. He also readied her small intestine to take on the task of the colon in a few months.

"I was able to use robotic surgery, which meant no major incisions for Susan," Dr. Kassir said. "I used five smaller incisions. The pathology report showed 27 precancerous polyps in her colon. They would have become cancerous eventually; no one knows when. With the colon removed, her prognosis is good."

The subsequent ileostomy reversal surgery in November, accompanied by the final connection for the small intestine's new duties, required four weeks' recovery. "I learned that healing is challenging — harder than I expected," Susan said of her surgeries. "But my care at HonorHealth Scottsdale Shea Medical Center was amazing. The nurses took really good care of me," she said.

She's relieved that her major surgeries and recoveries are behind her. She knows she's at increased risk of other cancers due to her genetic disorder, so she'll be vigilant. But she's ready to support other family members shouldering the same challenges to overcome their genetics.

In the process, she knows she'll use her five minutes of feeling an emotion and then moving on.

Learn more about genes and cancer.

What is genetic counseling?

Cancer genetic counseling helps you and your family understand your chance of developing cancer. Hereditary cancers occur when a person is born with a mutation (gene change) in a gene, which normally protects against cancer. Through genetic counseling and testing, you can determine if you or your family member's cancer is hereditary or more likely to be environmental.

If a predisposition to cancer is found, the counselor will guide you through possible changes to your health management, such as more frequent screenings or having screenings done at an earlier age.

Genetic counselors are highly educated in all aspects of genetics and are trained to communicate complex concepts in understandable ways. Genetic counselors provide a critical service by evaluating your family history and discussing the implications, limitations and benefits of genetic testing.

Consider genetic counseling if you answer YES to any of these statements:

  • I have a personal history of cancer diagnosed under the age of 50 (not including non-melanoma skin cancer and/or cervical cancer).
  • I have two or more close blood relatives on the same side of the family with a non-smoking related cancer (such as colon, uterine and/or ovarian cancer).
  • I have two or more relatives on the same side of the family who have the same type of cancer (not including non-melanoma skin cancers and/or cervical cancer).
  • I have a relative who had cancer before age 50.
  • I have a family member who has had multiple cancers.
  • I am of Ashkenazi Jewish ancestry and have a strong family history of breast and ovarian cancer.
  • I have a personal and/or family history of rare cancers (such as male breast cancer or childhood sarcoma).

Getting started

To make an appointment for genetic counseling, please call 480-882-4703. If you have questions, call our genetics program at 480-323-1231. We're open from 8 a.m. to 4:30 p.m. Monday through Friday in Suite 300 inside the Virginia G. Piper Cancer Center, 10460 N. 92nd St., Scottsdale, AZ 85258.

Please note: Insurance coverage varies. Most insurance companies cover the costs of genetic counseling and testing. Each insurance company has different policies regarding coverage. If you choose to have genetic testing you'll be informed about any potential out-of-pocket costs or if a physician referral is required. HonorHealth's team will help guide you through this process.