Yesterday we had our 20 week anatomy scan ultrasound and doctor’s visit. I had been waiting, waiting, waiting all week for this appointment. I was so excited to see Beau up close. Neither Chad nor I really slept Thursday night; I fell asleep an hour and a half after he did and when I woke up at 5:30, he had been up for an hour and a half. Then he fell asleep until until we had to leave around 8 and I was up the whole time. We basically tagged in and had one night’s sleep between the two of us.
I had to have a full bladder for the ultrasound. I had to drink 16 ounces of water starting at 7:30 and ending at 7:45–I think this is part of the reason I couldn’t sleep, I was so worried about making sure I got up to start my water on time. I drank the first 8 ounce glass in the first three minutes and then barely finished the second 8 ounces in the last minute. I was very concerned about what I was supposed to do with a very full (as it started to feel immediately after I finished the water) bladder for my whole appointment, but to my relief (pun intended) I was allowed to use the restroom after the first 10 minutes of the scan.
We got to the doctor’s office late (two almost wrong turns from very busy on the phone Chad) and I was pretty flustered when we arrived. Once we were in though, our ultrasound tech was amazing. She brought us back to the room, got us situated and explained the scan. She told us we could find out the sex if we wanted and we told her we already knew, she explained what all we would be seeing, she told me that I could use the restroom after we got started (whew), and then explained that she would tell me if everything was normal. If anything wasn’t normal, she wouldn’t be able to tell us that, but she would get lots of photos and talk to the doctor who would tell us in our appointment that followed (another sigh of relief).
So the plan was to basically go head to toe and look at all parts of Bean; however, as soon as we were set up, it became very clear that he wasn’t going to cooperate. Beau did a full 180* flip in the first minute of the scan. The typical game plan was out the window because every time Allison (our tech) had a good angle, Beau moved. He wiggled and kicked and twisted the whole scan. He was also very responsive to the ultrasound wand. He would pull away and move when he felt the wand on him. We were able to see all the parts at some point during the scan, but instead of head-to-toe, it was: a kidney, a leg, his head, another leg, another kidney, a hand, his head, a foot… We just looked at the parts of Beau as he showed them to us. In the end, we were able to see (almost) everything we needed to.
We saw that Beau has all 4 chambers of his heart, and we saw the left and right ventricle arteries. We saw his diaphragm which was below his heart and above his tummy–exactly where it should be. We saw his fluid-filled stomach and bladder; these are good signs that his digestive system is working properly.
We saw his spine, which looked great. We saw his legs and his feet and ankles. His legs were straight and he didn’t have any indication of club foot on either side. He appeared to have 10 toes (actually in one shot it looked like 11, which, great, if he does have another–which I doubt–he’s extra stable). Allison measured his femur. The machine recorded each of the size measurements and at the end spit out an estimate of Beau’s development. We saw his arms and hands, and everything looked great there. We measured around his waist.
We then looked at his head. Allison measured around his head. Everything looked great with the head and upper spine. The size of the flap on the back of Beau’s neck indicated low risk of Downs which confirmed his genetics tests.
We ended with just a few last shots that we needed. We still needed to see a muscle on the heart, but Beau was so twisty and folded up (we checked with Allison, he’s just flexible, he doesn’t appear to have any deformities), that we weren’t able to get that shot. This means we’ll get to see Beau again next month 🙂 There’s nothing to worry about, we just need to try again next time and hopefully he’ll be a little chiller. Allison also wanted to get us the “sitting on a glass table” “it’s a boy!” shot. Beau had his umbilical cord between his legs, right above his penis. Allison tried to jiggle him to get him to move, but he wouldn’t untwist, so we have a different angle shot, but we did confirm that his boy parts are there! The final shot that we tried to get was the profile shot–the typical shot for keepsakes. We must have tried 15 times for this shot over the course of the scan. Beau did not want to cooperate. Every time Allison got the ultrasound in the right spot he would either turn right at us (horrifying–like something out of an actual horror movie) or would turn away. Finally, at the very end she got him in the right spot, but he was moving his arms around and wiggling so they are a little blurry.
One of my most favorite moments was when was saw him yawn, it was a huge yawn and after it he shook out his head and whole body. It was VERY cute.
Beau measured 4 days ahead of his due date and is estimated to weigh 12 ounces. We are very happy that he is doing well.
After the scan we saw the doctor. This wasn’t nearly as great of an experience. The doctor we met on Friday was our least favorite. We were weighed (gained a few pounds!). We then met the doctor. I told him I had some questions and while I was finding them he told me that he had some questions for me. He asked me the typical (scary) questions about bleeding and pain. None of either. And then I got to my questions.
A little bit of background. Mom had to remind me after my last appointment that I should talk to the doctor about a genetic disorder that I have a tentative diagnosis for from childhood. So to take it back, I have a spinal deformity called kyphosis. Like scoliosis, kyphosis is a curvature to the spine. In kyphosis, the disks of the spine are wedge-shaped which causes me to have a curve in my upper back between my shoulder blades (like a hunchback). The spine compensates for the curve in my upper back with a curve inward in my lower back. My kyphosis developed when I was in 7th or 8th grade. At the time, I grew several (6) inches in a year. The spinal curvature is due in part to this rapid growth. While there are surgical interventions for kyphosis, my case wasn’t severe enough that the risks and challenges of surgery (it’s a horrifying surgery) would outweigh the benefits. Instead, my treatment involved physical therapy and bracing. I wore a back brace for 3 years.
Ok, so that’s my back. Now to the genetic disorder. I had a birthmark removed from my arm my freshman year of high school. The birthmark wasn’t huge, but the doctor wanted it biopsied. The biopsy was negative and all was fine, but I had to have the stitches redone because my skin wouldn’t hold the initial set and I developed a big keloid scar in the place that the birthmark was removed. It turns out that fragile skin, keloid scarring and kyphosis are symptoms of a genetic disorder called Ehlers-Danlos Syndrome (EDS). Ehlers-Danlos is a group of associated, inherited disorders that involve issues with connective tissues. There are two major concerns with Ehlers-Danlos that relate to pregnancy (not all EDS patients have both, there are several types of EDS): the first is heart valve issues and the second is in blood clotting (or, really, an inability to clot that leads to excessive bleeding).
The dermatologist who made the diagnosis of EDS initially referred me to a cardiologist. I had an echocardiogram that indicated no issues with my heart. Because my heart seemed normal, the cardiologist determined that there was no need for additional testing. Because in 2002, insurance companies could deny insurance to those with pre-existing conditions, and because my heart seemed healthy and normal, the dermatologist and cardiologist decided that we shouldn’t pursue a definitive diagnosis of EDS and I was left with my tentative diagnosis.
Ok, so fast-forward to my wisdom teeth surgery (2004??). I had an issue with healing and bleeding, which MAY indicate that I am prone to the the other EDS complication of excessive bleeding. It’s also worth noting that I did not have an issue with bleeding in my tonsillectomy.
Now back to Friday. I wanted to talk to the doctor about EDS, and my tentative diagnosis to see if there is anything that we can do to test for my blood’s ability to clot or just to make the physician group aware that this might be a concern. I mentioned this and the entire appointment felt derailed. According to the doctor “EDS is not a minor concern” and I was referred to a high risk pregnancy specialist who I will be seeing in the next two weeks. I am now very stressed about what to expect with this appointment. Hopefully all will be fine and we will know more soon, but I was not expecting that this would be such a problem (he almost made me feel like it was irresponsible to even be pregnant). We didn’t get any confirmation from the doctor that things were alright with Beau, but I suppose that no news is good news when it comes to our ultrasound, and that the doctor would have told us if he felt there was something we needed to talk about on Friday. The doctor also told me that there shouldn’t be any issue with my kyphosis. He dismissed my concern about not gaining weight–I only need to worry if after 24 weeks I am not putting on a pound a week. And he offered no guidance on our question about circumcision.
So all in all, although our ultrasound was amazing, the appointment with the doctor was stressful and discouraging. I will set up my meeting with the high risk pregnancy specialist and will have more info on that and hopefully a game plan after the appointment. Thankfully our next appointment with our physician group (Feb 3) starts with an ultrasound and then continues with Dr. Shuman, the doctor that we have liked the best so far. I am very much looking forward to talking with Dr. Shuman because she made me feel encouraged and supported after our last appointment with her. Some good and some not so good. I know pregnancy is a rollercoaster, but I’m not good at dealing with unknowns.