My mom and I went to the doctor for my weekly visit this morning. Elam still has a healthy heartbeat (about 160 bpm). We got results from my blood work and a karyotype (picture of Elam's chromosomes). We learned more about my blood clotting disorders. I'm still confused about what they are exactly-- I'll have to do more research. One is called PAI-1, which causes me to clot more readily and/or not break down blood clots as quickly as I should. I also have a MTHFR mutation (a type of thrombophilia?), which interferes with my ability to metabolize folic acid. It can lead to a greater risk for heart disease and blood clots. Because I don't metabolize folic acid efficiently, it can lead to birth defects in future pregnancies. The doctor still doesn't think that these will be a problem when I'm not pregnant. It's nice to find these problems now so that I can help prevent them from causing birth defects or miscarriage next time I get pregnant.
We also found out a couple more things about Elam's birth defects. The hole in his heart is in the septum between his ventricles. He also has some calcification in his heart muscle. He seems to have a Dandy-Walker malformation (a defect in his brain). It is also possible that he has webbing between his fingers because he would not open up his hands on the ultrasound. Webbing is typical for triploid babies. I have another ultrasound on December 18, if he makes it that long, to "evaluate viability and growth."
We're still praying for our little one's healing and we're enjoying listening to his heartbeat every day.
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