Due to stomach challenges, I went to see Farshid Sam Rahbar, MD at LA Integrative Gastroenterology and Colonoscopy. He recommended various tests, including a colonoscopy and endoscopy. I had no idea what I was going to experience.

The U.S. Preventive Services Task Force recommends colonoscopy to begin at age 50. In May of 2018, the American Cancer Society (ACS) changed the recommendation to start regular screening from 50 to 45 years old because of rising rates of colorectal cancer in younger adults in their 40s. Recently, ACS also suggests colonoscopy for people with a family history at age 40, and study results in the Journal of the National Cancer Institute in May 2019 explain that colon cancer is rising for those under 50, with more rates in Western states.

I’m 45 years of age and a 21-year brain tumor survivor. Routine MRIs, blood work, appointments, other tests, and integrative cancer care for the whole person are imperative. New priorities can surface at a moment’s notice, and although undesired, I finally had the colonoscopy and endoscopy.

On the other side of the tests, I woke up at the University of California, Los Angeles (UCLA) lying down in the hospital bed. I experienced intense sickness in my gut, throat, and other body parts. A few minutes afterward, I vomited, slept, and eventually felt slightly better.

Alireza Sedarat, MD who performed the colonoscopy and endoscopy stopped by and looked quite serious. He said I had 20-30 large polyps, which is unusual, and smaller polyps that he wants to remove in 6 to 9 months. In addition, the doctor said he thought it wasn’t cancer, but a pathologist needed to review it and provide a report with the findings.

That took energy to process, and then Dr. Sedarat told me to meet with a genetic counselor to evaluate for underlying genetic syndrome for advanced polyposis. As a brain tumor survivor since 1998, I’ve never had an appointment with a genetic counselor, and I was about to learn the undesired.

I met Erica Silver, MS, LCGC, a genetic counselor at UCLA, specializing in cancer genetics and hereditary cancer syndromes. She explained the importance of genetic testing due to the large polyps and because I’m a brain tumor survivor. I told Erica that it surprised me that I’ve never done genetic testing. I’ve had genomic testing related to my tumor’s molecular composition, but not the genetic makeup that is hereditary. Erica emphasized that genetic testing is focused on genes in the body and not from cancer cells. After the appointment, Erica directed someone on staff to take a small amount of my blood sent to Invitae for genetic testing called Common Hereditary Cancers Panel of 47 genes.

Several weeks later, Erica received the results. She told me, “You are positive with MUTYH-associated polyposis (MAP) mutation.” For people with MAP, the literature suggests the risk of colon cancer ranges from 43% to almost 100% without appropriate management of polyp burden. In addition, duodenal adenomas are found in 17-25%, and with an increase of ovarian, breast, bladder, thyroid, endometrial, and skin cancers have been reported.

MUTYH mutation comes from both parents because each of them carries the MAP gene, and the chance of having an affected child is 25%. For me, the concept of family history was not in my mindset with cancer.

Erica and I also talked about cancer statistics. She said 70% to 90% are not related to mutated genes, and overall genetic makeup is at 5% to 10%. Overall, the other 90% to 95% of cancer comes from lifestyle factors and the environment.

With appreciation, I’m grateful I had the colonoscopy and genetic testing, as well as the report from last fall showing I do not have colon cancer. But, after research, I wish I already had more testing of genes at Invitae with Invitae Nervous System/Brain Cancer Panel and Invitae Multi-Cancer Panel. I’ll have those tests sometime this year. Invitae offers patients the self-pay fee at $250 for all tests processed each time.

I continue to think about the mutation. Along with MAP potentially connected with colorectal cancer and other types of cancer, I wonder: Does MUTYH mutation also suggest the risk of brain cancer? I asked several prominent neuro-oncologist, and none of them had heard about the MUTYH mutation related to brain cancer.

I spent time to research on scientific findings, and I found some studies indicating possible links with brain tumors and MUTYH mutation. I believe it is vital for more research regarding brain tumor patients with genetic testing of MUTYH and other genes. As a possibility, if more brain tumor patients have the MUTYH mutation, perhaps targeted agents and other treatments can be developed with goals for improved outcomes.

In the meantime, I had another colonoscopy earlier this month that lasted two hours. Dr. Sedarat removed about 80 small polyps, which is unusual to have so many. Once again, the report said I do not have cancer. He told me to get my next colonoscopy in one year and work with a GI doctor for support.

I continue to research for myself about genetic testing, mutations, MUTYH, anticancer and integrative strategies, as well as help for cancer patients as a cancer coach. Both genomic and genetic testing can be beneficial to see each patient as a person, including individualized care through personalized medicine. Oncologists can be innovative and incorporate various approaches, but it does not always happen. It is essential for each person affected by cancer to be their own advocate. Be proactive. Educate yourself. Ask for help. Find ways to improve your quality of life and survival. You deserve it.