Sunday, August 19, 2018

No Clinically Significant Variants Detected

It's been a couple of months since I last posted. We have made it to Qatar and are in the middle of orientation. Everything is going well! But, I will write another post about that in the next few days. I wanted to keep you all updated on something I did during the summer.

In the middle of July, I took the step to get genetically tested for "the" cancer gene. Why? For those who don't know my family history... My maternal grandmother had breast cancer when she was in her 50's. My mother passed away from breast cancer when she was 39. Learning from the geneticist, I found out that having cancer at a young age could be due to a mutation in the genes. Now, we will never know if mom had a mutation, but I wanted to find out if I did.

I DON'T. Two days before moving to Qatar, I found out that I don't have a cancer gene. Good news, right?! Well, it's a mixed bag. Yes, I am extremely thankful that I don't have the gene. However, that does not really mean what you think it might. I will try to break this down how I understand it.
**You cannot take what I say to be gospel. If you are concerned about yourself, please seek genetic counseling yourself.**

The average person is at an 11% risk of developing cancer. Since I have a family history, and mom was so young when she got it, that bumped me up to a 32-34% chance of developing cancer. With that, I am supposed to get yearly mammograms and MRI's, and I should have been doing that since the age of 30. I'll be 32 in November. Every gynecologist I've been to has said that I'm too young for that. Thankfully, the geneticist is prepared to fight for me, and will issue a letter from her office to any gynecologist who refuses to give me an exam, discussing my risks. That's good news for me. If I had the gene, that would put me at an 80% risk of developing cancer. At that point, we would have had to discuss possible surgical procedures to prevent the likelihood of getting cancer.

Now, the reason it's a "mixed bag". Just because the genetic test came back negative does not really mean that I don't have a cancer gene. There are thousands of genes in humans. I was only tested for 17. Not even 1% of my genes were tested. So, potentially, I could have a mutation in a gene that has not yet been linked to cancer or was not tested. Or, I could have a mutation in the genes tested that cannot be found with current testing methods.

This means that I will have on-going communication (every few years) with the geneticist to see if there have been any updates or findings within the scientific community about genetic testing.

This might sound like I am not excited about the outcome. I am excited that my chances of getting cancer have not gone up. I am also excited that I will have proper testing going forward. However, the geneticist kept going back to the fact that mom had it at such an early age. Sure, it could have been environmental. Maybe she had a mutated gene that was not passed on to me. We'll never know. And, that's the scary part. I guess none of us really know, and that's scary to me.

Anyway, I wanted to keep you all updated. Zach and I will continue to live our lives to the fullest. We will continue to explore different places, and we'll continue to take you along for the ride.

Qatar updates to be posted soon - I hope! 😉