Finding out.

August 25th, 2018

Tommy and I were out and about, we ran to Walgreens to get me some more dry shampoo (a girls best friend). While we were there, I thought we might as well get a pregnancy test since we had been trying at this point. Though it was a little early to take it, we got the tests anyways with plans of waiting a few more days to take it just to be safe. We were on our way to meet up with Tori and a friend when it all went downhill. Me being the Curious George I am opened the box and started reading the details of how this specific test works. These were extra fancy tests that I hadn’t used before, you know the pricy Clearblue ones with the really thick handle. So I opened one of the packages like a dummy and THE DANG TIMER STARTED GOING OFF! Panicked, I showed Tommy what I had done; but he was driving so we both were freaking out (because like I said, these were fancy and not cheap)! We were on the highway so pulling over wasn’t an option. And if I remember right, once the timer starts going off you have two minutes to pee and be done! His immediate reaction was to dump his Dr. Pepper out of the window while driving, and handed it to me to pee in! So, of course I had to do it, all while busting up laughing trying to pee in his cup going 65mph on the highway! Honestly, what choice did I have? lol. We really didn’t expect much because one, it was pretty early to test. And two, who knows if we even took it correctly after our highway fiasco. I was afraid to look, but to my surprise, it read “Pregnant!” My first positive at home/car pregnancy test. It was one of the happiest and funniest moments of my life.

We did the usual after getting a positive pregnancy test and got in contact with a doctor and made our first appointment. Though at this point I was only about 3.5 weeks pregnant I was considered a high-risk pregnancy because of my tubal pregnancy, but I also have factor five leiden which is a blood clotting disorder. We were able to be seen right away. We met our doctor followed by a full blood work up. Twelve vials of blood if we are getting picky here. Our next visit the following month is where we went over my blood work and of course, my blood clotting disorder came up. So my doctor immediately started me on Enoxaparin sodium injections daily into the stomach. I continue those through my whole pregnancy and then six weeks postpartum as well. They have gotten A LOT easier. If you know me you know I despise needles! Our monthly check-ups were fun but of course, we were really waiting for our 20-week appointment where we’d find out the gender. Wellll me being impatient and way too excited I found a place in Seattle that does strictly gender ultrasounds. So at 16 weeks, we went to find out what we were having. We knew we were going to do our airplane drop as our gender reveal so my Mom came along to find out what it was. She was the only one that knew for six whole days! You best believe I spent all of those days begging her to tell me but she stayed strong and didn’t tell a single soul. Finally, the day came for our plane drop gender reveal where blue powder dropped out of the sky and we found out we were having a baby boy! We were all excited but no one’s excitement quite compared to my Dad’s! He is a father to four girls and he cannot wait to have a grandson.

Link to plane drop video: https://www.instagram.com/p/Bq3TOxXn_U4/

I’ve been asked quite a bit since announcing Ren’s diagnosis of how we know for sure that Ren will be born with Down Syndrome. Most quad screening diagnoses are a false positive, and to be honest, we hoped ours was too in the beginning. However, that is not how we got our official diagnosis. When I got the phone call from my doctor I originally missed it and she left me a voicemail and sounded concerned. She called from a private number so I was frantically trying to get her contact info from the hospital. They weren’t allowed to give out her phone number so I had to wait until she checked her emails from the hospital. You could imagine the anticipation! Luckily later that day she called back letting me know about my quad screen. She suggested I get a more detailed ultrasound done in Seattle to check for Down Syndrome markers. From there we would determine what tests be done depending on those results. After my screen, my chances were now a 1 in 12. We were originally told that our chances of having a Down Syndrome baby were a 1 in 1,000 just according to my age. I was personally even hesitant to waste the resources on the blood test. When the doctor asked we just said sure but of course we assumed everything was normal. “Down syndrome affects about 1 in every 800 babies born, with a lower risk in younger women and a higher risk in older women. At age 30, for example, a woman has less than a 1 in 1,000 chance of conceiving a child with Down syndrome. Those odds increase to 1 in 400 by age 35. By 42, it jumps to about 1 in 60.“

Down Syndrome markers are small details in the baby that typically show up in Down Syndrome babies but can show up in all babies. The specific markers they were looking for were an absent nasal bone, shortened leg and arm bones, the thickness of the neck (nuchal fold), calcium on the heart, and calcium in bowels. Ren didn’t have all of these but he had four of them. Surprisingly they said he has a prominent nasal bone or bridge of the nose. Don’t quote me on this but from my research, 70-80% of down syndrome babies are born without one. It’s one of their main features so we thought that was interesting that he has one. His femur bones were measuring four days behind the rest of his leg bones. His neck fold was 6.00 mm and they would have considered the average to be 5.00 mm. He had a small bright spot on his heart and bowels, which they say is calcium. So those are his other two markers.

We met with the most amazing genetic counselor after the ultrasound where she explained how healthy his brain and body looks. The calcium isn’t concerning at this point and most babies pass it or grow out of it before birth. We are so grateful for how healthy he is thus far. However, after the ultrasound, I was still processing the fact that our lives were going to be so different. I wasn’t able to take in all her knowledge because to be raw I was really sad and upset. She was very kind and comforting but did say she would be very surprised after our ultrasound results if he didn’t have Down Syndrome. The next step usually is to get an amniocentesis. This comes with a chance of miscarriage and an even higher risk since I’m on blood thinners so we declined. The amnio test is 100% accurate because they get the babies exact DNA. Luckily we had an alternative option. It’s a special blood test that is 99% accurate and it takes traces of the babies DNA from my blood. I can’t remember the specific name. I will ask my genetic counselor next time I see her for anyone that is interested! We did this test immediately following our ultrasound and the results took about a week in a half.

All we could do is wait. I read a lot of forums during this time like A LOT. So many worried mamas explaining what their quad screen chances were and also some even having the ultrasound markers seeking any info they could. I read so many comforting words where people told their stories of having for example 1 in 6 odds AND still having down syndrome markers. They were reassuring these moms that they were probably okay and that most likely they had a false positive. I did notice that so many of those Moms were heartbroken and upset. Much like how I was feeling at the chances of our baby having Down Syndrome. But these forums got me through for a couple of days, that and a ton of online research. A few days before we got our results I started coping with it. I finally felt like reaching out and talking to mamas that have gone through this with results of Down Syndrome. I read many blogs looking for comfort and Instagram has been more than helpful finding people to relate to. I’ve met the most amazing people recently and alllll of them say ” you’re in for the biggest blessing you didn’t know you wanted.” The day I got the call to confirm what I already knew I was at complete peace. Like absolutely and completely comforted. I was actually shocked at how little emotion I showed, but I already knew. I knew he had Down Syndrome. I knew he was pre-chosen for us. I knew he was meant to be our baby, and I knew we had the knowledge and support of Heavenly Fathers plan to get us through. Our next step in our journey is to have a detailed echo on his heart in the next couple weeks. We pray everything continues to be healthy.

https://www.babymed.com/tools/down-syndrome-risk-calculator