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My Results for Genetic Cancer Testing

When we started working with Just Ask about Hereditary Colon Cancer I told them a little bit about my family history of colon cancer. They asked me a few questions that I hadn’t ever asked my family, and what the implications of that genetic history might mean. After doing a little more research about my grandmother’s colon cancer and finding out that there were others in my family that had it, it seemed like a good time to go ahead and explore my own double helix strand through genetic cancer testing. You can read more about what triggered that decision here.

Ultimately, I’ve all ready had a colonoscopy under the age of 35.  My grandmother and her sister had colon cancer in their 30’s and my aunt had pre-cancerous polyps in her early thirties. I had decided that I would be sure to have a colonoscopy by age 32, the age my grandmother was when she was diagnosed with colon cancer. I had a polyp. It was benign, but it’s not very common to have polyps at such a young age. My doctor told me that since it was benign I was fine to come back when I was 50 like everyone else. The more I learned, the more it seemed like I needed to look a little deeper.  If I had the gene, that would change my screening and gameplan dramatically.

Who To Call

Your colon is part of your digestive system and falls under the scope of a “Gastroenterologist”. Ask your primary care doctor for a good referral, or of course if you have a family member who has dealt with colon cancer ask who they see.

I got a great referral to Dr. Kyle Barnett at Granite Peaks Gastroenterology. He spent a lot of time with me and we determined that it would be a good idea for me to check to see if I had the gene for Lynch Syndrome.

The Test

I knew it wouldn’t be painful, but I thought it might be something like donating plasma. It wasn’t even that bad! You do a lot of swishing and spitting with a few capfuls of mouthwash and you are done. The sample is sent off to the lab for testing. It takes a couple of weeks . . . and the waiting begins.

Genetic Screening Test

We know that I’m a danger to myself online. I wanted to know what would happen if I did have the gene. And of course, I searched online and found this video.

The Results

I was a little amped up as I waited for my results to come back. It takes a couple of weeks to process. Finally, I got a call on Monday of this week. NO genetic mutations were detected in my DNA to suggest that I have the gene for Lynch Syndrome. Um. That was a relief!

What That Means 

It means that I can rest a bit easier about that genetic mutation in specific. Because I still have a familial pattern of colon cancer, I will still get colonoscopies every 3-5 years (NOT waiting 15 years until I’m 50). My gut told me that if I waited 15 years it would be too long. Following up with a good 2nd opinion from Dr. Barnett was definitely the right thing for me to do in order to build the right screening plan for me.

If I had the gene, I would have a colonoscopy every year, in addition to some of the preventative steps that Judi in the video above went through. Not what I necessarily wanted to hear, but at the same time, in this case, it’s better knowing and staying on top of it, than living in ignorance about such an imminent diagnosis.

Would you find out if you could? What would you do with the information?

More on TodaysMama.com:

Hereditary Cancer Quiz

And Then I Think I Have Colon Cancer

Get Screened Giveaway

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Comments (3)

  1. T Mumby 04/16/2013 at 9:35 pm

    Yay! Takes guts to faceit and get. Good for you!

  2. Erin O. 04/14/2013 at 9:10 pm

    WHEW. Yay for good news!

  3. Pingback: My Results for Genetic Cancer Testing | RachaelH.com