Genetic Testing and some unwanted answers

Hey it's Matt,

Ever notice how so much of the not so great news gets posted by me. I hope as the years go on and my kids get older and have the chance to read this "book" we are documenting for them, they don't get mad at me for being the messenger. So here goes nothing.

Back in May when our fears were confirmed that Ashley did in fact have cancer, we kept asking how this could be possible. How could a 31 year old female in otherwise perfect health have stage 3 rectal cancer. We were told the following;

75-80% of all cancer is sporadic. Meaning there is no other answer other than it happened by chance. This is obviously the most common answer people find as to "why me?"

15-20% of cancer is Familiar. Meaning when multiple family members have had a certain type of cancer, but it tends to develop later in life.

5-10% of cancer is Inherited. Meaning this is a genetic gene mutation that was passed down from one (or possibly both) sets of parents. Even if the parents don't show signs of cancer. This is the most rare form and usually develops at an earlier age. This is also difficult because it means the children of whoever was diagnosed have a 50% chance of inheriting the same gene mutation.

Hopefully this made sense. So we were told repeatedly odds were this was just something sporadic and we probably would not find any further answers.

So then came the literally dozens of questions by well meaning people as to why Ashley developed cancer at such a young age. Did she eat too much deli meat? Is her diet too processed? Did she live under power lines too long as a child? and so on.

Back in August they did some blood work and and thankfully our insurance paid for genetic counseling to determine if there were any factors. They told us it would take several months before we heard anything, but not to stress about it because it usually comes back inconclusive.

We decided to have a fun day at the park with the kids and take them out to dinner for Family Home Evening. I posted a picture of Ashley playing with Griff on the swings while I climbed the rope net with the older kids.

Then the phone rang.

Ashley started to walk away from Griff and signaled to me to come down. We walked a short distance away and she put the Dr on speaker phone. Our genetic testing results had come back. They had come back positive for the CHEK2 gene mutation.

This poor lady then went on to try and explain what that meant to us, what it means for our immediate future and what it means for our kids.

CHEK2 is a relatively new gene discovery. I am not smart enough to tell you all that it means, but here is the little I know.

CHEK2 is associated with colorectal and breast cancer. The general population has roughly a 2% chance of getting colorectal cancer and women with no other history have about a 6% chance of getting breast cancer over their life time. People with CHEK2 gene mutation have about an 11% chance of developing colorectal cancer (about 5 times greater chance) and women have approximately a 40% chance of developing breast cancer, (roughly 6 times more likely) There are other studies trying to check the link with other cancers like prostate, ovarian and thyroid. But because the understanding of this new CHEK2 gene is limited, they don't really know. The poor woman on the phone then began to try and explain how Ashley needs to start doing MRI and Mammogram scans, alternating them every six months, on top of the scans and tests for her rectal cancer. Starting like, NOW.... until, well until forever.

So I watched Ashley fall to the ground as she listened to this new wave of bad news. I sat beside her as we both tried to keep our composure since our kids were about 30 feet away blissfully ignorant to what we were dealing with. At one point Wyatt ran over to give us a hug just to say he loved us and then ran off. I was so glad Ashley was wearing big sunglasses so he couldn't see what she was going through.

So here is what we learned today in a nut shell.

1. Ashley inherited a genetic mutation known now as CHEK2, which greatly increases her chances for colorectal and breast cancer. This was the cause of her cancer! No question about it.
2. CHEK2 is located in every cell in her body, and because of its relatively new discovery, little is known about exactly how much it influences.
3. Each of my kids have a 50% chance of inheriting this genetic mutation and will have to be tested roughly at their 18th birthday
4. We will have a whole new set of concerns to deal with once we get through these next few months.


Wasn't this the most fun ever? Enjoy any Google search on CHEK2 and its correlation with Colorectal Cancer and increased probability. Imagine having to worry about possibly giving cancer to your kids. Imagine the What If's that get to run through our minds from now on. Imagine the fun we will get to relive over and over again every time we go in for a scan and wait for the results.

Let the good times roll !!!!!