Friday, October 4, 2013

A Discussion On Genes (and not the comfy, denim kind)

I have been MIA from the blogging world.  I didn't realize how far behind I was until I looked this morning.  I owe Layla a few posts, and I want to do a European Vacation update.  I will probably just make those all into one big lump. 

However, I did want to share information about what's been going on in my life since the summer started.  I haven't said much about anything because there was a lot of information I didn't have, and unknowns about testing, etc. At the beginning of June I had my happy lady doctor appointment. Once again my doc was suggesting genetic testing for breast and ovarian cancers. We had been having this talk for a couple of years, but I wasn't really old enough to really be concerned. (They have all of these equations for family history, age, etc to decide these things.) 

 Anyway, this time we decided to go ahead and do it PROVIDED I get the coverage from insurance.  I am all for being prepared, but the $4000 bill wasn't in our budget. So I waited and waited and WAITED and finally, the very end of June I got the approval from our insurance.  I had already given the blood they needed, they could just actually do the testing now.  So I waited and waited AGAIN, and at the end of July I got the results.  They weren't positive but they weren't negative either.  It appeared that I was negative for the breast/ovarian mutation, but something else popped up and the testing center/my doc didn't know anything about it.

So my doc referred me to an oncologist at the KU Med Cancer Center.  I JUST had that appointment on Wednesday.  (So more waiting.)  I wasn't really ANXIOUS, but by the time I got to the cancer center I was hyped up more than necessary. 

But it was completely fine and normal. and my doc was so unbelievably nice, and well versed in his specialty.  But in laymans terms, not all his medical gobbledygook.  He started this Risk Assessment/Management Program with KU Med 10 years ago or so, and now that's all he does.  So they look at family history and personal health history plus genetic testing if necessary to determine risk.  There is a ridiculous amount of diverse cancers in my family, running on both sides.  KU Med has their own equations and questionnaires to determine if you would qualify for testing, etc.  My appointment was a great discussion on my personal health history, family health history, the world of genetic testing, and risk management.  I greatly appreciated all of the information.

He explained my irregular result from the genetic test.  I kept saying mutation, and he finally said it's not ACTUALLY classified as such.  I have a Favor Polymorphism.  He explained it like this: If you are building a car at the assembly plant, and you have all the blueprints to build the car, and you get to the engine blueprint and it says put the engine in the trunk.  So you do, and go on building the car.  From the outside, the car looks fine, but eventually it won't run. BUT if you have the blueprint for the stereo and it says put a silver knob on it, but instead they put a black knob on it, that's me.  Does the stereo work? Yes. Does the car run? Yes.  Could it cause a problem? Possible. But not necessarily something to worry about.

The Favor Polymorphism that I have was only the 14th of it's kind to show up.  (Thus all the hoopla.)  However, it doesn't really mean anything.  Genetic testing/analysis is still such a young science that there isn't a giant database to compare it with.  So they have seen my kind before, but they don't have much info about it.  It could be a million other people have it, too.  They just don't know.  So basically they have a TON of info about me, but nothing really solid to compare it to.

Enter my Grandma Frankie (paternal grandmother). Gram had breast cancer, a mastectomy, and chemo at 38 (1974).  She is a huge indicator for my genetic testing.  My mom was diagnosed at age 55, and is a factor, but because she was so much older, it's not as pertinent.  This is all about preventative measures and risk.  I will start mammograms probably next year, so I will be taking more steps to be aware.  However, with Gram's early onset, there is information in her busy little body that they want.  So, it's her turn to be tested. My doc wants to see what her genes say.  If she has something there that I don't have, then there really isn't much to worry about.  If there are some similarities, then we keep talking and figuring things out. And for her own well being, there could be ovarian cancer or other mutations that they could find that could help her.

ALL of this to say, it's a lot of information without a lot of solid knowledge.  I feel WAY more educated, and less in the dark.  So that's a huge thing right there.  And I am a HUGE supporter of 'The More We Know.'  So I might never learn anything that helps me or that I ever need, same for Gram.  But in thirty years, I hope Layla isn't doing this, and that breast/ovarian cancer are curable.

So the next step is that Gram will get tested, and then we will go back together to talk with the doctor about the results.  Seeing as it took forever to get the first appointment, I have a feeling it will be awhile. :)

In conclusion?  Know yourself.  Know your body. Know your history and your family's history.  Talk to your doctor.  Do your research.  My results could have just as easily been positive.  Perhaps I wouldn't have gotten cancer at all or maybe I would have been 50.  But I would have KNOWLEDGE and could make educated decisions. I could have chosen preventative measures to hopefully avoid getting those cancers in the future.

I understand all of this is based on my insurance company's decision to approve the testing.  And I am NOT looking to start a fight about government shutdown's, health care, Obamacare, and whatever else someone will pull from this.  HOWEVER, genetic testing is the start of a new wave of cancer prevention.  My insurance looked at my history and said, Yup, we would rather front a 4k bill plus whatever comes after than the possible hundreds of thousands of dollars later in my life should I be diagnosed. And yes, this is specifically only for two cancers. But I hope there are more/will be more tests. I hope people do them. I hope insurance companies cover them, and costs plummet so people can afford them.  It's grandiose thinking in a world where Congress gets a big fat paycheck for failing.  But in thirty years, if Layla has to go through all of this too, then the failure is astronomical and we have lost more than a few thousand dollars.

Below is a blog from a woman that was diagnosed with breast cancer at 31.  It's heartbreaking to read, but the information and financial burdens are staggering.  It's worth your time.


 

1 comment:

  1. I'm so glad Grandma Frankie is local and available (and I imagine MORE than willing) to provide what they need! And I'm glad you're just discolored. Ironic example, give your synesthesia. :)

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