The Fun Filled World of Genetics - MUTyh

 

Hello again! If that title doesn't pique your interest in this post, I don't know what will. Haha! I know that genetics can be very confusing, but I find them fascinating, and hopefully you will gain an appreciating for the role genetics play in our lives by the time you finish reading. 

Maybe it is just me, but the overarching question one finds themselves with when diagnosed with cancer or a different life-threatening illness is, WHY? Then it's, WHAT caused this and could it have been prevented? (Side note - it doesn't even matter if it could have been prevented because here we are. It's too late to look at prevention and spiral into the realm of the unknowns and unchangeable. This question is only necessary in order to look at helping others with prevention.) Finally, WHAT can I do to heal and keep this from recurring or spreading?

After my surgery was completed and the cancer I had was staged, I was given the option to do genetic testing. Backing up a moment, there is a fairly common hereditary form of colon cancer called Lynch syndrome. Also FAP, which is less common, but still one that the lab tests for once they receive the tumor sample after surgery. I did not have either of these show up, which was GREAT news, but I still decided to go ahead with additional testing because I simply wanted to know if there was a reason, other than diet, that I was diagnosed with colon cancer. 

I will attempt to relay this information in an understandable and semi-interesting way.

I received my results approximately 20 days after submitting the sample and they found that I have two MUTYH gene mutations, one on each chromosome, one from each parent. (This is called MAP). My parents then proceeded through the genetic testing to confirm the results, and to find out if either one of them possibly has two mutations as well. If that was the case, the "genetic" spread of this disease would have been likely for my children. 😖 Now that we have the results from both of my parents, it was confirmed that they each carried one MUTyh mutation and I just happened to receive one from each of them. This is a recessive condition, which makes me a carrier, but it is unlikely I would pass it on to our children because Darek does not have this mutation at all. If he did have one variant, like each of my parents, then there would be more cause for concern. Each child would have ~25% risk to inherit both mutations, which is not the case for our children. 

Are you lost yet? Hang in there! Here is just a little more information, for the curious:

MAP is an autosomal recessive hereditary cancer syndrome where both parents are carriers without any obvious symptoms. Typically the individual with colon cancer due to MAP is the only one in the family to have this cancer and there is not an obvious family history of colon cancer.

This is all fantastic news for both my brother and children! My brother, Dan, will now go through the genetic testing to ensure that he does not have both mutations. I would also like to add that 1 in 50 Caucasian people carry one MUTyh mutation, so this is actually a common mutation. However, only ~4% of the population carry 2 of them. This just makes me even more unique! 😃 Don't you feel honored to know me now? HA!

I met with my surgeon this week to discuss these findings and seek his opinion on continued surveillance and follow up care going forward. Let me just say that my surgeon, Dr. Michael Spencer, is a wonderful man. He is always uplifting and positive, while delivering factual information. I honestly was a little nervous about this appointment based on the list of "certain other cancers" associated with this syndrome. He calmed my nerves right away and set my mind at ease, based on the very low risk possibly associated with most of these cancers. He helped me come up with my routine care plan and talked about the more long term future and what that surveillance care will look like. While I will have some unpleasant procedures, there is nothing more unpleasant than surgery and cancer. I will gladly take the surveillance appointments over having cancer in my body. 

I will continue to eat my same diet, and I hope to meet with a naturopath, educated in nutrigenomics, to aid in my eating plan. I know that based on these genetic findings, we can narrow down the types of foods these cancers feed on and make sure that I am not missing important nutrients while eliminating those that would be dangerous for me. I love that we have the option to integrate medicine and natural health. 

WOW! It is astonishing how complex our bodies are, and how God works through our lives. While this post is primarily about my genetic findings, I do want to add that I know God is working this out. It can seem daunting and discouraging, but there is comfort in knowing that we can come to a place of refuge and peace where God's promises will not change. He knows the final word and already has our stories written for our lives. I will continue to speak life and truth over my health and my family. I trust that God has restored my health and healed my wounds. I stand on His promises! God wins!

I will leave you with this quote by C.S. Lewis, "Relying on God has to begin all over again every day as if nothing had yet been done."

Happy Fall!

Until next time,

~Steph