Do these genes make my butt look cancerous?

I’ve always been skeptical about sending a pile of my life building Lego blocks (DNA) to an unknown lab. Being a security and privacy nerd, I cringe when I see 23 And Me and Ancestry.com ads on the television. Given the number of data breaches each year, I figure it is only a matter of time before one of these genetic labs is breached. Then I got ass cancer, and my opinion changed a little bit, the risks of not having genetic testing far outweighed the chances of a data breach. Unlike the commercial genetic testing laboratories mentioned above, these tests would be conducted by a medical lab, so maybe the risk exposure would be less, but then again who knows.

After speaking with the medical and radiology oncologist, they both recommended that I talk to a genetic counselor given my family history with colon cancer and polyps. I had no idea genetic counseling was even a thing, but I scheduled an appointment because I wanted to make sure I didn’t pass any bad genes on to our children.

I was asked to fill out a questionnaire before the appointment, with a laundry list of items regarding family medical history. Starting with my grandparents on both sides, I made my way through the questions. Did relative x have cancer? What type was it? Are they still alive? When did they die? Have they had a colonoscopy? At what age? Did they find polyps? It quickly became evident that I didn’t probe my relatives about their medical history nearly enough. It was time to call up the source of truth, mom. After the usual small talk, we dove head first into an investigative interview with deeply probing medical questions. By the end of the call, I had a good picture of my family medical history and a family tree with enough symbology to star in the next Dan Brown novel.

A few days later, I met with the genetic counselor, who was highly skilled at decoding the symbols in the family tree. She reviewed all the branches of the tree with me and asked additional, non-cancer related questions to assess the overall health of those closest to me. I mentioned that my oldest daughter has two different colored eyes (heterochromia), which is a type of genetic mutation. BINGO, geneticist paydirt, she was instantly fascinated, especially in my daughter case, since we have no known relatives with this condition.

Based on my family history, the counselor thought it would be a good idea to have genetic testing done to verify I was not at risk for hereditary cancer in the future. Additionally, these tests would be used to determine the level of surgical intervention needed. If I had a genetic mutation, then they would likely take the whole colon since I would be at extremely high for a reoccurrence. Finally, the results would also let me know if I had any chance of passing cancer genes down to my children. All of a sudden, I wasn’t so worried about privacy or security. So, I decided to go ahead with the testing. What they do is use a blood sample to determine if I had one of the 20 known genetic mutations attributed to colorectal cancer (and about five other fun varieties as well).

Genetic testing is relatively straight forward from the patient side of things. They drew some blood and sent to an outside laboratory for analysis. They offered to use my port for the blood draw, but I refused and opted for a regular needle draw instead. It was only two days after surgery, so it looked like a professional MMA fighter’s chest after severely losing a fight. After the lab draw, I was on my way back home to “hurry up and wait” again.

Two weeks later, I got the call from the clinic, letting me know my results were back. They had an appointment the same day, so, I hopped back in my truck to make my weekly pilgrimage to the cancer ward. I was sick of playing hurry up and wait; my schedule suddenly became wide open when I got that call.

We went over my results, and they were excellent. Out of the 20 known genetic mutations tied to colorectal cancer, I tested negative for all of them. Fantastic news from the surgical perspective, this means that my entire colon does not need to come out. As fun as randomly crapping my pants sounded, I think I’ll pass on that one. If surgery is required, it will likely be a localized resection of the tumor region, which has fewer complications, and overall better quality of life prognosis. However, the frustrating part is that I don’t have an answer as to what caused the ass cancer to rear (see what I did there?) its ugly little tattooed head. It literally could be anything at this point, chronic constipation, environmental exposure, food exposure, my grandma’s “well-done food,” you name it.

The genetic counselor still thinks there is a high probability there is a genetic cause for my cancer; however, they just haven’t discovered the exact gene mutation yet. They’ve come a long way in genetic studies the past five years, so they will undoubtedly identify new genes in the future. After I kick ass cancer to the curb, I will enroll in a cancer survivors program, so they will notify me if and when new genes get discovered so I can get retested. If they find out I have one of the newly discovered mutations, it won’t change much for me as my treatment will be done. However, they will start closer monitoring, and they will make sure our daughters get tested.

So for now, my genetic testing is good news and hopefully will remain good news in the future. Fingers crossed they find a cure for ass cancer between today and the new gene discoveries.