"...it's a fatal diagnosis. I'm so sorry" February 26, 2025

 February 26, 2025

"I have some bad news... your baby has what we call Anencephaly...it's a fatal diagnosis. I'm so sorry" 

tears started streaming down my face faster than I could process finding out our 20 week ultrasound just 30 minutes prior to this phone call didn't go exactly how we thought. But! Hindsight is 20/20 and it makes sense that her computer wasn't recognizing his head, how she kept saying because of his position she couldn't get a good profile/spine/head pictures, and that an appointment that usually takes 45 minutes took us 20 minutes. The poor ultrasound tech. She knew and couldn't tell us. She put on a brave face and kept us excited and completely unaware that our baby was missing most of his brain tissue and skull. 

Oh how grateful I am for Mike Gilbert, the head of ultrasound and also a family friend, who took it upon himself to deliver this intense news. As we ourselves tried to process this news, we also were telling our parents amidst the high emotions, all while trying to prepare to take my oldest son, Remington, to his first cardiology appointment. Yeah, stacked those on the same day since Caiden had the day off.. it was a lot. Luckily, Remi's heart murmur is innocent and he will grow out of it. Some comforting news in our day. Oh, did I forget to mention on our way to Remi's appointment our car randomly died at an intersection? Ha. I guess that saying "when it rains, it pours" could be appropriate here. But honestly, the car was the least of my worries and I sat in the front seat in my stalled car waiting for the tow truck laughing about it while eating McDonalds. 

The next 24 hours were a whirlwind. With an upcoming trip to see my family, my OB was able to get me into Maternal Fetal Medicine (the high risk OB), the next day. So the next 24 hours were spent researching and researching this big scary word "Anencephaly" that has never been part of my vocabulary.

So let's chat about it, shall we? 

"Anencephaly (A-nuhn-seh-fuh-lee): A baby born with an underdeveloped brain and an incomplete skull

Symptoms: Absence of the cerebrum and cerebellum

Prognosis: Death typically occurs within hours to days after birth" - Google

Heavy. Really heavy. Then you start googling the stats and it feels even heavier.

Was I going to miscarry? The research pointed to most likely not making it to 37 weeks.

If I do miscarry, what will that look like? Will it be like a first trimester miscarriage, where it's like you're having a heavy menstrual cycle while passing baby tissue? Will it mean surgery? Will it mean going to labor and delivery and actually delivering our son? All heavy options. 

I arrived at my second anatomy scan just 24 hours after my first, and they didn't hold back. The ultrasound tech printed about a million pictures of my 3rd son and while we never once mentioned his diagnosis, I could clearly see his deformity. After all the pictures, I had a telehealth appointment with my high risk OB, Dr Edwards, who was tender and knowledgeable about our situation. I found comfort in finally receiving answers. We didn't talk about the termination option as that wasn't an option for me. So we focused our conversation on carrying our little boy as long as he would let us, which she comforted me and said there is a high chance we could carry to full term. Of course, I could miscarry earlier, but at this stage in pregnancy that would look like a labor and delivery scenario no matter what. Our little boy could be stillborn or have a few minutes to hours to days of life in him. We are still anxiously waiting for that part of the story. 

How did this happen? Was it my fault? I wasn't the best at being consistent with my prenatal.. the guilt set in.. maybe I could have prevented this.. It's still something I think about. Again, heavy. 

Dr. Edwards explained with anencephalic babies, they check for other markers like down syndrome, Trisomy 13 and 18 etc. The reason they check for these things, is because if your baby shows signs of these other conditions on top of anencephaly, then it could be a genetic mutation to be looked into. But since our boy didn't have any other markers, she felt comfortable saying that this was an embryo mutation. She stated that for the general population you have a 1% chance of having a baby with a neural tube defect. For those moms in that 1%, that's me, our percentage increases to 3% for future pregnancies. This means that us 1% mommies are now on a prescription dose of folic acid for basically our child bearing years. The normal dose of folic acid in a typical prenatal is 4 micrograms. When you're in the 1% club (can I say that? Is that okay?) your dose of folic acid jumps to 4 milligrams. Honestly, I have no idea how big of a jump that is, but Dr. Edwards says it's a prescription and people will most likely look at me like I'm crazy for taking that much folic acid. So anyway. Here we are. 

I found this on the internet regarding Microgram vs. Milligram. I didn't heavily research this cause I honestly don't care too much but just for reference: 

Milligram: One milligram is one thousandth of a gram and one thousand micrograms.
Microgram: One microgram is one millionth of a gram and one thousandth of a milligram.

For now, our sweet perfect boy is growing basically on schedule (besides, of course, his head). He is active. Very active. Perceptions change when you're throwing death into the mix, so instead of excitement for the typical "getting this baby out of me" due to discomfort, I'm hoping to keep him as long as he will let me. I'm hoping we get to have at least a few minutes of life with him come July. But I also find peace that he's made it this long. We'll see. 

-Aubrey