Friday, May 17, 2013

My gene pool is closed for maintenance

Okay, so the other day I referenced something about genetics and how they suck. Let's discuss that further, shall we?

So as you know I went in for a colonscopy/endoscopy a couple of weeks ago, and everything looked okay. I still needed to wait for the biopsy results regarding Celiac's and colitis, but I wasn't too worried because I was highly certain I did not have colitis (since it's a pretty severe and obvious illness), and if I did end up having Celiac's I would just alter my diet. No biggie.

So here I am thinking all is well and the ordeal was over until my next colonoscopy (as of right now my doctor wants me to do them every two years).

Wrong.

Last Monday I get a phone call from the Providence Comprehensive Breast Center informing me that my gastroenterologist referred me to them as a "potential high risk patient". Because of my family medical history, I may or may not have the mutated genes linked to certain cancers, upping my overall cancer risk substantially.

(Much like Angelina Jolie, her positive BRCA-1 result, and her preventative double mastectomy. Her cancer risk went from 87% to under 5%, which is awesome)

So the gal at the Breast Center informed me that I need to fill out a comprehensive family history form and bring that in to my appointment. Once there, one of the geneticist's nurse practitioners will plug my information into a computer and get a risk percentage. If my risk turns out to be high, they will then take a DNA sample to be sent off for genetic testing.

7-10% of breast/ovarian cancers and colon/uterine cancers are from a hereditary mutated gene, and 30% of all cancers are familial. Based on my dad's incredibly early and aggressive colon cancer, my doctor suspects his cancer may have been because of a mutated gene, rather than bad luck, and that I therefore would carry this gene as well.

They would be testing me for the BRCA or HNPCC genes, the so-called "cancer genes" that would... well, ruin my day, quite frankly!

(Of course, were I to test positive for the HNPCC gene, I can't really have a preventative colon removal... it's not like taking off your boobies and replacing them with new ones!)

However, the caveat to all this is that the gene testing is very expensive (and let's face it, I'm not exactly in Angelina Jolie's income bracket!) so they only do it if it is deemed absolutely necessary, and only if insurance covers it fully, or if I'm willing to cough up the dough to cover the remainder myself.

BUT, even if I end up in the low-risk category, or if I can't have the test done because insurance says no, I will still leave there with a very detailed and personally specific plan on preventing cancer, as well as early detection signs.

Because I'm not even 30 yet, I have young children, and I have a lot of living left to do. I'm not going down without a fight, dammit!

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