Sunday, April 29, 2012

I'm a Mutant

Y'all probably didn't know that, did ya?  The problem is that I don't have special powers.  My mutation is of my MSH6 gene and is called Lynch Syndrome.  Who knew that all our genes are cataloged?  Here's how my daughter, Katie, describes our mutation (she's a mutant too and has a degree in biology so she knows what she's talking about):  


"Lynch Syndrome is a genetic mutation that is in every one of my cell’s DNA.  As DNA copies itself, a “spellchecker “goes behind it to ensure that the code was copied correctly.  If it is not correct, then it will initiate a process to fix the damaged code.  Lynch Syndrome causes that spellchecker to malfunction, so that if my DNA has a mistake during copying, that mistake will not be corrected in the new cell.  This change in the code increases my risk for certain types of cancers.  The specific spellchecker protein affected in my case is MsH6."


Yeah, we were pretty freaked out when we found out we had this a couple of years ago.  My aunt started the ball rolling when she tested positively for it.   My dad then tested positive too.  That meant my chances were 50/50 for having it, so I optimistically assumed I wouldn't. I debated getting tested, but figured I would rather know.  Do I need to have a colonoscopy every year or every 7-10 years like everybody else?  I preferred the option with the least frequency and being optimistic, I figured I probably didn't inherit the offensive gene.  Wrong!  Ugh.  The worst thing was knowing that I may have passed my mutation on to my kids.  And I did.  At least once anyway.


But we got over the freak-out stage, and now we're down to the business of just getting screenings done more frequently than the average population:  like getting a colonoscopy every year.  Not fun, but definitely not the worst thing in the world.  If you don't want to hear anything more about colons, you better stop reading now.   Katie and I like to do this as a Mother/Daughter event.  We prepare the appropriate solutions, tap our glasses together, say "Cheers", and it's down the hatch!  This year, just to make it all worthwhile, the doc even found two polyps for me (non-cancerous)-- and removed them of course.


Today's sermon at church was about having thankful hearts.  The main scripture passage used was the one from Luke about the 10 lepers that were healed and how only one turned around and ran back to thank Jesus... for healing him from the dreaded disease of leprosy!  Too often I forget to thank Him too, for all kinds of things.  But right now, right here, I will.    Thank You God for genetic tests so I know how to take care of myself.  Thank You that my dad is 88 even though he's a mutant too.  Thank You for doctors and nurses and anesthesiologists and technicians and volunteers.  Thank You for all they are able to see and do and treat.  Thank You that my daughter doesn't blame me for passing on a bad gene to her.  Thank You that the polyps I didn't even know I had are gone now.


I usually post pictures with my blogs, but I just can't think of any appropriate ones for this post other than this:


The Mutants
P.S.  If you have a huge family history of a particular disease, like my family has for cancer, talk to your doctor.  Maybe there's a genetic test you could get to know how best to take care of yourself.  Knowledge is power.


P.P.S.  I now have a tattoo!  The doctor tattooed the inside of my colon to mark where one of the polyps was.  Now I'm cool.

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