I have a genetic mutation. It is not the intangible phasing of Shadowcat (one I might choose if given a choice).
Less exciting, mine is a hereditary blood-clotting mutation. I don’t think “throwing clots” is listed in any X-Men superpowers.
Oh whoopty do. I think if they did extensive DNA testing on more people, they would find that we all have some kind of special concoction of weirdness that we can choose (or choose not, dear padawan) to define us.
Not that it doesn’t scare me…a little.
Mine is Factor V Leiden, which I may never have known about if I hadn’t requested my medical records recently from my gynecologist. I was procrastinating during my search for something else when I decided to thumb through the huge stack of paperwork they gave me.
Among the papers were documents from the tissue biopsies and bloodwork done from my hysterectomy. While the other records were equally disturbing and not something I’ll be sharing here, I was stunned to see that the paperwork showed I have a Factor V Leiden gene mutation.
I was never told I might be a Teenage Mutant Ninja Turtle, or Shadowcat. I discovered the information, eight years after my hysterectomy, buried in a piece of paper I was never given, never informed of.
Among the mischief this gene can cause (should it choose to express itself) is an increased risk of blood clots, particularly deep vein thrombosis. It also is linked to increased rate of miscarriage in women with the mutation.
Given the mortality rate in my dad’s family from heart attack and stroke, I’d venture a guess where I got this fancy schmancy DNA.
Like I said above, I can choose to let it define me, or I can choose to shrug it off. It is, after all, just one gene, in a pool of…what is the latest estimate now, 20,000-30,000?
After I overcame my usual round of “The sky is falling! The sky is falling!” and bemoaning the wonders of patient information in modern medicine, my first thought was “Blow it off. Let the siblings know it’s out there, in case they want to know, but set it aside and go on.”
I thought this was a healthy course of action, but then I got to thinking, “Why not let the sky fall?”
In the books and articles I read about the psychology of change, few individuals actually make a completely life-altering change when it comes to fitness or weight loss or dietary changes. This remains constant, the statistics show, even when those changes are required to save their life.
Maybe we need a little more chicken-little and a little less cocky rooster.
If I choose to let this define me, to the extent that it causes me to work harder at being healthy, then maybe a little fearful, chicken-like state of paranoia is beneficial.
The downside is that I catch myself in the what-if’s: If they had known about this factor prior to my miscarriages, would it have altered the way they treated me?; If my father had known he had this mutation, would it have altered the life choices he made that increased the odds of the coronary thrombosis that killed him at 45?
At the least, when I was asked at virtually every doctor’s visit since 2005 whether I have any issues with blood clotting, I could have at least said “I have Teenage Mutant Ninja Shadowcat blood (TMNS)” and let them decide the course of treatment.
I’m sure I’m still going to make poor lifestyle choices from time to time, but there is, surprisingly, comfort in imagining my TMNS superpowers taking over from time to time, saving me from myself: “Ma’am, please step away from the bacon.”
Love, Marla
Ah, the catch-22 of modern medicine – well stated. I might have rather continued thinking that my heart flipped because a hot guy walked by than finding out I have stupid a-fib. Or is it really the a-fib? Either way, I guess I have an excuse to keep looking now…
Oh, Marla, I so admire your attitude! Finding that balance between just enough Chicken Little to be motivating and not so much “the sky is falling” to be completely depressing and paralyzing is a fine line and you seem to be toeing it quite well! That line has definitely been helpful with my Crohn’s over the past 8 months.
It’s also amazing to me how often secondary results of our medical tests are not told to us. I had this happen last summer, I had an abdominal CT scan for the Crohn’s and all I got were the results related to that – I only found out because my insurance denied paying for the test I could prove the other thing wasn’t a pre-existing condition. It was a minor thing, but when I called my doctor out on it she said “oh yeah, it’s really minor, but you should get it checked out just to be sure.”
All that to say, I understand a very tiny piece of what you’re going through, undisclosed test results are a real problem so we should all really request copies of our records more often (as my brother’s GI said: they’re yours, you paid them for them, you should have them), and I admire your thoughtful, upbeat attitude!!
Take care, my friend!
Awesome attitude, Marla! And you’re right, we all have something to deal with (sometimes as intangible and unpredictable as being in front of a speeding car at the wrong time – happened to a lovely cousin of mine two years ago). And I agree, we need a bit more of chicken-little or we don’t do what we need to do. Nice to think we’d make good choices for their own sake, but, as you say, history does not bear that out. I’ve done a lot of homecare in my life and I’ve seen it for myself. What that did for me was to help me make better choices for myself and generally, I do that. Not always, though 🙂 I DO like my comfort food at times and it shows! But I’m working on alternate means of finding comfort and slowly it’s happening.
Your story made me wonder if my Dad might have had this. He died at only 75 after experiencing massive clotting for nearly a year. I’m sorry you lost your Dad at an even younger age; it’s a challenge to lose a parent at any time, but when we are young, I think it’s harder.
Thanks for spreading the word; you never know who you might help through this post. I’ll have to ask my doctor next time I see one to have my blood tested, too.
Stay well and travel far . . . ~ Linne