Thursday, August 13, 2015

POSITIVE CHD1 MUTATION

So, how did all this crazy stuff come about???

Well, I saw my primary doctor for my annual visit and she said, "Ok, you are 30 now and I really think we need to be preventative however we can on the stomach cancer stance so I'm going to refer you to a gastro doctor here in Bismarck." Perfect! Anyway to be preventative I am 100% game for!

So, I met with a Gastro doctor in Bismarck who, let's be honest here...I mean that's what I'm all about, I did not care for in the slightest! ...Anyway, she asked why I was there and I explained my mom died at 44 years old of stomach cancer and so did my grandpa. I was there to be preventative and not walk in my mom's shoes. She asked if I had certain symptoms and the only thing was heart burn, which I can control by not drinking pop and eating chocolate. She did a physical stomach exam and said, "Ok, plan is to let us know if you have any other symptoms and if not, we will see you back in 10 years." TEN YEARS???? So, when I'm 40 and about the time when my mom maybe started getting a few symptoms?? Um...no. That was NOT going to fly with me. She got to the door to walk out, looked back at me, and I'm guessing she saw my jaw hit the floor. She shut the door, came back in, sat down and asked why I didn't seem comfortable with that. I told her exactly why....I want to be here for many more years to come and this visit was pointless if that's all she was going to tell me. She, THEN, asked a little more about my mom's cancer. At that time, I didn't know a lot....the cancer kind of engulfed her whole stomach, it's very rare, hard to detect, generally Asians get this, and may have come from too much Advil. That's all I had. She did some searching on her computer and said, "Ok wow! I'm glad you stopped me. To be honest, we have never dealt with this cancer here. Less than 1% of people get it. Our best bet is to send you down to Mayo Clinic as they know most about it and can let you know everything there on how to prevent it."

So, met with an AMAZING genetic counselor at Mayo Clinic who went over ALL the details of the CDH1 mutation. We decided to do the test...there was only a 25% chance it would come back positive since we had nobody else in my families test results to go off of. Did the blood draw (simple and expensive process) on April 27th. Got the pre-authorization back from insurance company showing it was approved the middle of May, then 4-6 weeks later got the call that I tested positive for a CDH1 mutation. I wasn't really sure how to feel.  Being a pretty positive person, I took this as maybe not the BEST thing, but the alternatives could have been worse.  The results could have come back negative & I still could have ended up with stomach cancer and never did anything to be preventative.  I could have tested inconclusive and that would mean something weird is going on with my gene, but they're not sure what.  (To be honest, inconclusive would have driven me CRAZY!)  So, testing positive isn't SO awful...not like they said I HAVE cancer and guess what, I have options to be preventative!!!

From there, was referred to the GI department in Mayo to go over my 3 options and had that done on Monday, August 10th along with my first endoscopy to follow Tuesday, August 11th.  Will talk about my 3 options and results in a separate post as this one is getting a hair long! :)

2 comments:

  1. Wow, what a difference you made in educating the first gastroenterologist, Heather! Bravo!!

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    1. Thank you!! I'm glad I didn't just wait 10 years and decided to stop her!!

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