Diagnosis.

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My heart is racing as I type this.

I don’t know why this so such a big deal. I guess I was hoping that all of my tests would come back normal and I would go back to being a healthy young person with maybe some anxiety issues. Lots of people deal with stress and anxiety, and most of them get through it just fine.

Well, it turns out that one of my blood tests came back positive for Factor V Leiden, which is a genetically inherited blood clotting disorder. [note: you may want to skip down a few paragraphs if you slept through Human Physiology] Everyone has a gene for Factor V which functions as a cofactor which allows another factor to activate an enzyme called thrombin. What does thrombin do? Well it helps to form fibrins, which form clots. Eventually, another protein (activated Protein C) is activated which helps to signal Factor V to slow down and eventually stop coagulation.

With me so far? So, those of us with the genetic mutation Factor V Leiden have an issue with that protein (activated Protein C) that stops the clot formation. Somehow it changes one of the amino acids normally present in Factor V in a way that it blocks the activated Protein C from working. As a result, I have an increased risk for dangerous blood clots called Deep Vein Thrombosis (DVT).

According to the Mayo Clinic…

“Factor V Leiden (FAK-tur five LIDE-n) is a common inherited genetic disorder that can increase your chance of developing abnormal blood clots (thrombophilia), usually in your veins.

Most people with factor V Leiden never develop abnormal clots. However, some people with factor V Leiden develop clots that lead to long-term health problems or become life-threatening.

Both men and women can have factor V Leiden, but women may have an increased tendency to develop blood clots during pregnancy or when taking the hormone estrogen.

If you have factor V Leiden and have developed blood clots, medications can lessen your risk of developing additional blood clots and help you avoid potentially serious complications.”

So, what does all of this mean for me? The gene most likely came from my father’s side of the family because it is most common in those of eastern European descent (my father is half Italian/half German and my mother is English/Irish/Dutch). Luckily, I haven’t had a DVT, and I don’t have any additional risk factors, so I do not need medication yet. However, I have talked to my OB-GYN about the diagnosis and it was a bit scary. If we decide to have children (and apparently the clock is ticking) then I will have to give myself a shot in the stomach every single day. Not cool.

For now, though, I’m back to training and racing without fear of a heart attack. I’ve been tracking my blood pressure every day and it has been perfectly normal (except at the doctor’s office). My doctor ordered one more round of tests just to rule out some additional genetic conditions related to Factor V Leiden and some other test having to do with my kidneys. It’s been an exhausting few months, but I think I’m getting over my fear of needles with all of the blood I’ve had drawn. Good thing, since I’ll have to stick every day myself for 9 months at some point in the future!

Tomorrow I am headed to the S.M.I.L.E 5k in Virginia Beach, another low key race for a good cause. I’ll go into more detail about that race tomorrow, because it’s quite a story. I am definitely excited to get back out there and rep Oiselle again, and hope to share some good photos from the event too!

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8 thoughts on “Diagnosis.

  1. Sty strong girl! It sounds like you are taking a well-educated approach to this! Keep racing fast and having fun and being smart:)

  2. I was recommended this web site by my cousin. I’m not sure whether this post is written by him as no one else know such detailed about my difficulty. You are wonderful! Thanks!

  3. I have the same blood disorder, diagnosed 2010 after dvt behind left knee. My doc said running was the best thing for me. Now I do 1/2 marathons, best shape ever. Thank you for posting–glad to know I’m not alone.

  4. Pingback: Buon Anno! « pieceofcakerunning

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