Sunday, February 24, 2013

Mutations and Jeremiah

For I know the plans that I have for you,’ declares the Lord, ‘plans for welfare and not for calamity to give you a future and a hope. Jeremiah 29:11 (NASB)



This verse has been on my mind this past week, for several reasons really, but, as one of those verses that we quote all the time, its not one that usually has that much of a deep impact on my day to day life. It is quite sad to think about how mundane I can allow God's word to become, simply by not seeking to live in a way that shows that I believe it to be true... but something happened this week in my life that brought me back to some previous postings and ultimately back to this jewel of a verse...

If you trace back through my family history, you will find that longevity is something that is an apparently foreign concept to the men and women in my ancestry. There are many exceptions to this, but by and large, we don't live extremely long lives. In particular, on my mom's side of things, you find a large number of women who have died in their 40's and 50's, most of whom never see their 60's. The list includes my own mom (51), her mom (47), and a couple of her aunts (mid-40's)... they joined the group of women in their family who died of an extremely metastatic, fervently devastating, and  aggressive ovarian cancer. Thanks to the advances in medical technology and our growing understanding of our genetic code, mom was able to be tested for Hereditary Breast and Ovarian Cancer Syndrome (HBOCS). It turns out that her family has been passing along a disastrous mutation known as BRCA1 R1699W. This mutation raises the lifetime risk of contracting an aggressive breast or ovarian cancer, most often deadly in less than 5 years, to just over 80% before the age of 60. Better yet, assuming only 1 parent is a carrier, you stand a 50/50 shot of passing it along to your children. 

Towards the end of her life, mom and I were talking about this whole mess, and she asked (to put it nicely) that I get tested, she wanted to know that her newest (at that point) granddaughter would be given every opportunity to not have to go through the battle she was enduring. She prayed exhaustingly long prayers that her children and grandchildren might be spared, or that new studies that she was a part of might shine new light on prevention and treatment of the disease. I didn't get around to being tested as early as she would have wanted...

My sisters both were tested, both came back with no signs of the mutation. This surprised me a little, both sisters (from a genetic standpoint) remind me more of my dad, but there is a good amount of mom in both of them, and the gene seemed so apt at getting itself passed along, but there they both were, with kiddos of their own, not having to worry about them having passed the gene along. So there I was, the most like my mom, the only one left untested...

I grew up hearing about how much more I resemble her side of the family, physically, even my personality, was so much more her. I have a lot of my dad in me too, but my defining characteristics were so much more mom... each of us kids had a 50/50 shot of being mutated, both sisters came through clean... I froze. Even with all of my harping to patients and their families on the importance of education and gathering knowledge to best prepare for moving ahead in their lives, I was terrified to get tested. Mom's voice, and her infectious smile, burned on me... my wife kept reminding me of the need to get it done... mom's oncologist, and his NP, would stop by in the unit and ask when I was coming by... I fought it for a year and a half, a month ago, I finally went and got tested.

The past few weeks were a new kind of stressful, the fate of my life potentially largely altered, my gorgeous kids' future weighing heavily on a sheet of paper... I just knew I would be a carrier of the gene. 

This past Wednesday, I got a letter, in large, bold print NO MUTATION DETECTED... 

I cried, probably would have cried either way, but I cried... I sent my dad a text, he cried... my wife and I ate dinner, we tried to wrap our minds around the implications. This mutation was not going to be responsible for my future, or my kids'... we were restored to the (still saddening) baseline population cancer risk rates. And Jeremiah 29:11 came to my head... For I know the plans that I have for you,’ declares the Lord, ‘plans for welfare and not for calamity to give you a future and a hope.

There is a reason why the gene stopped at this point, a reason why 3 kids managed to not get the once rampant mutation, and why 6 grand-kids did not either. My dad and I agreed, God has a plan for this family that required (for some reason I will likely never understand) the pain and suffering on many people in my ancestry, a plan to move forward from where we are now. I can't wait to see how God will use each of us, if we let Him. I don't know His plans, but I know that there is a reason each of us kids did not inherit this mutation, and why we won't pass it along to our kids. 

I would have liked to have gotten this news before mom passed away, I can only imagine the deep joy and relief she would have felt. I know she's smiling.



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