Mike has Lynch Syndrome.
We knew there was a high probability, but to be told with all certainty still kind of knocks the wind out of you a bit. Although not nearly as much as being told your husband, at age 37, has cancer. Nothing can compete with that.
Yesterday Mike & I went to Madison so he could have another blood draw. We had a chance to talk with Laura, the genetic counselor, and she explained why more blood was needed.
We had originally been told (several months ago) that two of Mike's mismatch repair genes appeared to have mutations (MSH2 & MSH6) we were also told that typically MSH2 will also take out MSH6 so further testing would be done only on MSH2. The blood taken for that was sent to Quest rather than Mayo where all of the other testing had been done.
The results of that testing done by Quest indicated a result which can often have a false positive. In order to rule that out the same test was done at Mayo to confirm it. Instead, Mayo found a DIFFERENT mutation right next to the one Quest found. At this point either exon 7 is missing or exon 8 is duplicated so BOTH labs will now look for both of those mutations. The blood draw was needed yesterday because the labs have used up all of Mike's blood from doing the previous tests. It appears that Mike is very well known around Mayo Clinic now. Well, his blood and mutations are anyway.
The importance of finding out exactly which mutation is involved isn't so much for Mike, but for the rest of his family and our kids. Laura said as big of a pain as this all has been, it's actually a good thing Mayo retested for Quests findings. Had we just gone along with the first result and assumed it was a positive-positive and not have it rechecked we could have ended up having family members being tested for a mutation that never actually existed. The worst case would have been that genetic testing would be done on family to look for a mutation in exon 7, having everyone's results come back negative only to find out later - after someone else ends up with a Lynch cancer - that the mutation was actually in exon 8.
Once the two labs run tests again for both exon 7 & exon 8 we will - ideally - know exactly which exon is involved. From there we send that information to Mike's parents & siblings so if they decide on genetic testing the labs will know exactly what to look for. A process that should only take a couple of weeks. Not five months like it has for us.
There are a lot of issues to think about with this diagnosis and it can start to feel overwhelming (that seems to have been a pretty common feeling over these last 7 months). What can I do to protect my family? There is a 50% chance that Cal & Zoey also have Lynch, although we won't have them tested until they are much older. Knowing there could be something in their DNA that makes them more susceptible to certain cancers can be terrifying.
We are fortunate that Mike has already has decent life insurance through the Air Force. In all reality, a diagnosis of Lynch Syndrome pretty much rules you out for getting any life insurance if you aren't already insured. We also benefit from a really good health insurance plan through Mike's employer. We anticipate the rates going up, but at least we're insured.
There is so much more to sort through and think about. Everything from what we are eating to what doctors Mike should have on his "team". Is surgery something to seriously consider? No colon = no colon cancer, but that doesn't do anything for reducing the risk of brain, skin or other Lynch cancers.
I think everyone has been touched by cancer in one way or another, but Lynch Syndrome is this other beast just lurking below the surface. An estimated 600,000 people have Lynch, yet only about 5% know it. Now when I hear of someone young being diagnosed with any of the "Lynch cancers", I always wonder if Lynch is responsible.
Sometimes it's hard to not let it all weigh me down. I don't want to live in fear. Fear of Mike getting cancer again, fear of the kids having Lynch.
I want to be proactive, but even that seems like too much to take on sometimes. Part of me wants to throw out every single plastic item in the house because of the risk of BPA. Get rid of everything that contains refined sugar, high fructose corn syrup and white flour. Then I have to take a step back and acknowledge that we are already doing things to be proactive. My kids eat whole grain wheat bread and don't complain, they have less screen time than the average kid living in the US, they typically like most fruit and many vegetables. So if they occasionally eat a pancake wrapped sausage on a stick for breakfast will that really undo all of the good stuff?
I have a lot to think about and I know I can't change the fact my husband's colon cancer was caused by a genetic issue. My kids either have it or they don't - I can't change that either. What I can change is how I deal with all of it while acknowledging that despite all the positive thinking this is a really crappy thing to have to live with, but it is what it is.