I kind of left you all hanging after my last post on our visit to the reproductive endocrinologist. The truth is that my test results revealed way too much stuff that couldn't all fit in one post. I will try to explain my results in the least boring way possible. My hope is that it may help other mothers navigate the excruciatingly complicated process of finding real answers after baby loss. I also realize that not all mothers need answers after such a loss. I have to say that I don't empathize with the type of rational in the least. In fact I secretly blame them for the lack of medical understanding surrounding the issue of pregnancy loss.
If mothers don't demand real answers from the medical community, then who will?!
As a parent, I feel a deep sense of responsibility for the loss of a life I chose to bring into this world. It has never been so clear to me that life begins at conception and that all human life should be dealt with dignity and respect no matter the size or length of the life. It is with this thought in mind that we felt compelled to undergo the painstaking process of finding answers.
I knew you before I formed you in your mother's womb. Before you were born I set you apart - Jeremiah 1:5
I had so many labs done that I felt like it was my job to get poked on the daily. Considering I had already been subjected to a battery of lab test a year ago right after delivering Julian, I really didn't have much hope that these new tests would reveal much. I was wrong.
D-Dimer 537 (normal is <500)
CRP 4.1 (normal is <1)
Lpa <10 (within normal)
ATA 41 (normal is <20)
So what does this all mean? Basically my clotting factors are all out of whack which can go completely undiagnosed until there's a blood clot, stroke or pulmonary embolism. Miscarriage or stillbirth can also be indicators BTW. Pregnancy has a way of taking results like mine and triple the problem of clotting, so it is not something to take lightly at all.
My elevated D-dimer, super high CRP and normal Lpa suggests that I may have an occult thrombophilia.
My ATA results indicate thyroiditis or a low grade chronic inflammation of the thyroid. Also known as Hashimotos. This is sometimes relegated to an autoimmune disease however I just happened to (can't and won't take credit for this) land in the hands of a doctor who doesn't like mysterious labels and instead likes to find s-o-l-u-t-i-o-n-s. Thyroid issues are no good for baby making and one mom thinks OBs should start screening for these things asap before more babies are lost. I have to agree 100%!
First off let me just explain that 23andme has been an invaluable resource. However, since the FDA truncated the companies rights, plenty of important health information is not included in their reporting. There is software online, like Promethease, that can read your 23andme data if your are interested in more detailed health reporting. Or you can reach out to the few places who know how to read this data like the Systemic Center.
rs222589-Through Promethease we learned that I am heterzygous for the rs222589 SERPINC1 snip which, according to Dr. Francois and Promethease, is usually correlated with deep vein thrombosis. Hereditary thrombophilias are not very well known and not easy to diagnose. Many times thrombosis only develops in the presence of an additional risk factor like pregnancy.
MTFHR-Through the Systemic Center we learned that I tested positive for a defective MTFHR gene. More specifically I carry a heterozygous copy of the C677T alelle. This defect affects folate metabolism and is correlated with adverse pregnancy outcome as well as, yep you guessed it, coronary artery disease, venous thrombosis & stroke.
Oxidation-My DNA analysis also revealed that my body is an oxidation creating machine. More specifically it inhibits my body's natural creation of Nitrous Oxide creating a genetic predisposition to Nitrous Oxide deficiency. This is generally a horrible thing to have since nitric oxide expands the blood vessels, increases the blood flow, and decreases plaque formation and blood clotting 😥. In fact the Dr. told me that people who present with similar nutrigemonic results as mine approach their office because they are feeling absolutely miserable and can barely function.
Anxiety-Last but not least.Turns out my body doesn't metabolize adrenaline very well. It kinda just hangs around keeping my emotional levels high. I always knew I was an easily stressed person, but just seeing the genetic mechanics of it all really opened up my eyes. Anxiety is something I have been working on during the last year by trying to remove stressors in my life. Pregnancy after loss is a journey plagued by anxiety and fear. The more I can control this area of my life, the easier our TTC journey will be.
Thankfully we have a Treatment Plan for that.
UPDATE: On April 7, 2017 23andme announced that the FDA granted them authorization to report on Late-Onset Alzheimer's Disease, Parkinson's Disease, Celiac Disease and Hereditary Thrombophilia as well as six additional conditions. Yay! ↩︎