ultrasound – Down Home with the Irrs

the present: 24 weeks

hey! remember me? i know, i know. it’s been 10 days since my last post.

suddenly, life was moving at a rapid pace and i couldn’t keep up with it all. between the doctors appointments, closing on our new home, moving, a toddler, and work orders, i was exhausted. still am. but we are finally, mostly, out of boxes and resuming life.

here is the final “catching up” update to get you to the present: 24 weeks pregnant.

weeks 21-23 were exactly as described before. BUSY. we closed on our first real home! we couldn’t be more excited to be be homeownIRRs and create a loving, happy, healthy, home for our growing family. thanks to the help of my parents and brothers, we were able to get the house in a decent place within a week! now it’s mostly decorating and buying new furniture! wohoo! i’ll keep you updated on the home front once things are more settled.

with a new home comes all the necessary appointments and people to the house – aka appliance deliveries, pest control (ummmmmmm California spoiled me for the last three years), locksmiths, internet provider, etc. there was someone new here almost every day to get things up and running. now we are waiting on the final delivery, our washer and dryer. can you believe we have been living without one for over a week now? the laundry pile is HUGE and we are on our last pieces of clean clothes. my wednesday is looking like a day full of laundry…yipee.

somewhere in these weeks, i managed to sneak in an appointment with the pediatric cardiologist. we were referred to Sibley here in Atlanta and according to my research and network of friends, they are THE heart specialists. in the earlier ultrasounds, little bug was 100% showing a heart defect. we did not know the extent of that defect and needed to get the cardiologist to take a look to confirm what was going on.

here is what i knew going into this appointment. it is very common for babies with Down syndrome to have heart problems. i knew little bug had a VSD (hole in the heart) and potentially a much more serious defect called tetralogy of fallot (ToF: basically a combination of four defects present at birth – you can google more about it). i was hoping this appointment would give us a clearer picture of what to expect after birth in regards to his heart.

if you have never had a fetal echo done, word of warning, they are LONG. like 45 minutes of ultrasound long. just looking at the heart. tips: make sure you are hydrated and well fed before you go in there. i was not and almost passed out on the table while the sonographer was taking all the pictures….whoops. and i was solo at this appointment – thanks, NBA.

after a painfully long ultrasound, the cardiologist came in to review the pictures and look more at little bugs heart. after he had everything he needed, we met in a different exam room to go over the results. to my pleasant surprise, the news wasn’t all that bad. if you know me, you know that i worry a lot and typically prepare for the worst (i am constantly working on this).

our cardiologist explained very calmly and in much detail that little bug did in fact have a VSD. it is a large one that will require open heart surgery to repair, usually around 4-6 months of life. they want these little babies to get stronger and fatten up before they attempt surgery (when possible). most VSDs can close on their own (or sometimes people live with them without issue), but it would be extremely rare for this to happen for our baby given its size. he also explained that he did not see any signs pointing to ToF or a larger problem. yahoo! good news from this appointment! we are not necessarily in the clear, but i am choosing to think positively and stay this course unless someone tells me otherwise. unfortunately, they really cannot confirm heart issues until an echo is performed after birth. i’ll go back to the cardiologist at 32 weeks for another check-in.

today, i am 24 weeks pregnant. physically feeling pretty good, except for the aches and pains from moving, chasing an almost 30 pound toddler and being on my feet too much over the last week. mentally feeling okay. i can’t say mentally i am great, but right now, i am hopeful and doing well in the land of okay. i can feel little bug moving everyday, which makes my heart happy. tomorrow i go back to the perinatologist for a growth scan, so i’ll know more then. there is still plenty of time for things to change in regards to little bugs health, but like i said before, i am staying in my lane until told otherwise.

today, and everyday, i am grateful for my two dudes and little one growing inside me. my family for all the love, support and help with the house and Landon lately. my friends, for continuously checking in on me. i am grateful that we have been blessed with the ability to buy a beautiful home for our family.

the waiting weeks 2.0: weeks 16-18

weeks 16 to 18 were filled with more waiting, but more “life.” here’s a look back at those weeks while we moved, prepared for an amniocentesis, and house hunted!

week 16: on july 27, we headed to our perinatologist in Oakland hoping to be able to have the amniocentesis done this day. i was freshly 16 weeks pregnant and just barely into the window of time where they can perform an amniocentesis. basically, they want the amniotic sac walls to be fused before they perform an amnio. this typically happens as early as 16 weeks, but is not the case for everyone. surprise, surprise, this was not the case for me.

the first half of the appointment consists of the ultrasound where the sonographer takes tons of pictures of baby to measure, track development, look for potential abnormalities or defects, and check if the amniotic wall has fused. then you meet with the doctor to go over the results. little bug (our nickname for this baby) was looking good and happy. per usual, he would not sit still for his pictures! then the doctor came in to talk through the results. things we learned this day: 1) i would not be getting the amnio unless we wanted to risk an unsuccessful procedure (we decided to return in 2 weeks) 2) there were a few areas of concern – there were signs of a hole in his heart, a potential brain defect, and a potential echogenic bowel 3) he was happy as a clam and gave us the thumbs up – like don’t worry mom and dad, i’m going to be okay 🙂 meet little bug ❤

it seemed like we were getting more and more bad news at every appointment. we had to keep in mind, however, that all of these potential health concerns were all considered normal for a baby with down syndrome.

week 16 was also filled with some fun things – house hunting! well, house hunting from afar. we looked at listings online from our agent and compiled a list of homes we wanted to see the following week when we arrived in Atlanta!

week 17: this week was a blur of life things. i think we toured almost 20 potential homes, striking out with them all. then we had a friend’s wedding in the North Carolina mountains. it was a much needed break from “life.” a weekend away baby-free (thanks to my father-in-law for keeping Landon), where we could reconnect with our east coast friends, relax, and semi-forget all of the stresses in our life.

we had a rude awakening back to reality after the weekend. Mike flew back out to California to handle the movers and returning the keys to our place. he flew back late Wednesday night to be at work bright and early Thursday. then i flew back to Cali on Thursday afternoon for my amnio procedure the following day. woof. this was a week!

week 18: week 18 started with me flying back to California for my amnio. due to insurance reasons, i had to come back to Cali. truthfully, i wasn’t too disappointed! we planned a girls weekend with my friends out there and basically had a weekend-long sleepover! besides the actual procedure part, it was a really fun weekend 🙂

the amnio. man, was i scared. there was the pain part that scared me… no pain medication or numbing creams to help with a needle going through my belly. then there was the risk to our baby that scared me. we already knew our baby had down syndrome (even though all the tests were not a true diagnosis), so was it worth the potential risk to baby just to find out the answer to the Klinefelters? i wanted Mike with me, but it just wasn’t possible.

one of my best friends stepped in for Mike and took me to the appointment and was my nurse for the rest of the day. the ultrasound showed the amniotic walls were fused and the procedure could take place. i think the entire procedure took all of one minute. it was definitely uncomfortable and not something i would like to do again. we had to wait two weeks for the results.

the rest of the day was spent relaxing and binge watching Bachelor in Paradise.

as with all things, everything seems to pile on at one time. we submitted an offer on a house the same day as my procedure (i did not see said house in person, but loved it from the pictures and trusted Mike to make the ultimate decision after he saw it) and went under contract the next day. life was definitely not slowing down for us anytime soon…

the day our lives turned upside down.

the first time our lives turned upside down was when Landon was born. the second time, it was June 28th and i was freshly 12 weeks pregnant. we were on the verge of starting to break the news to our friends and extended families that Landon would be a big brother. up until now, everything was pretty textbook. baby looked healthy, had a strong heartbeat, and was developing as expected. overall, i was feeling pretty good – minus some nausea and a few food aversions.

we were still living in California at the time and in California, the state pays for a prenatal screening program for anyone who would like to opt into the additional testing. for me, and us, it wasn’t something that my doctor strongly recommended we do given my age and clean family histories. the chances of a chromosomal abnormality were extremely low. however, we did the screening when i was pregnant with Landon, so we decided we would do it again. best case scenario, it was an extra ultrasound and chance to see our baby. worse case scenario, we would learn about potential risks that we would have time to educate ourselves on before the baby is born.

we sat in the exam room at maternal fetal medicine, Landon in tow because our babysitter wasn’t available, watching the sonographer work her magic and show us our baby. baby was happy, moving around like crazy, and made it a bit challenging for the sonographer to get the measurements. we thought it was pretty cute.

during this visit, the sonographer measures the fluid space between the neck and outer dermis. in combination with blood work done before the exam (and eventually after), they use algorithms to determine your baby’s risk of a chromosomal abnormality.

after the sonographer wrapped up her measurements of baby, we waited for the doctor to come in and deliver the results of the first two portions of the screening, the blood work and NT ultrasound. Landon was getting restless, as it was starting to get late for his afternoon nap, but we fully expected to be out the door in ten minutes with a sleeping baby in the car. that’s when the doctor arrived to deliver the results.

all I remember him saying was “i wish i had different news to share with you, but unfortunately your screen came back positive. high risk for chromosomal abnormality.” we both sat there stunned. in shock. not sure what to ask or what to say. there were no tears (yet) and i thought i was going to wake up from this bad dream at any moment. i was in disbelief that anything could be going on with our baby. we were told we would meet with the genetic counselor next before we would be on our way.

in the meeting with the genetic counselor, we were fighting our restless 14 month old and our emotions. we learned that our baby’s neck measurement was 6mm and the threshold for “normal” was 3mm. we learned my blood proteins were also very low for the normal range. we were told we now had a 1 in 5 chance of our baby having down syndrome (trisomy 21), trisomy 13 or trisomy 18. we were given all the information we needed to decide the next course of action we wanted to take, aka what further testing we wanted to do to learn more about what was going on with baby. after all, this was just a screening test that could have resulted in a false positive.

we took our information, uneasy emotions, and restless toddler as we exited. our next step was another meeting 4 days later for further counseling and testing. until then, we needed to process, pray, and research. needless to say, we waited to share the news about baby #2 until we had a better handle on all the unknowns.

the next 4 days, and subsequent week, were some of the darkest days of my life.