Down Syndrome – Page 3 – Down Home with the Irrs

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 waiting weeks

over the next few posts, i will attempt to do my best to get you caught up to the current (almost 22 weeks) stage in my pregnancy. we left off at 14 weeks, so here we go with the following weeks. i call them the waiting weeks.

welcome to the waiting weeks. weeks 14-16 of my pregnancy. they were weeks spent literally in waiting. waiting for more answers to be confirmed by an amniocentesis that could not be performed until week 16 at the earliest.

like i mentioned in the last post, we decided to go through with the amnio to confirm the exact genetic make-up of our baby boy. and again, like i mentioned, the blood test is very accurate in detecting Down syndrome, but not terribly accurate in the sex chromosome detection. given the results of the blood work, we just wanted to be absolutely certain. we were NOT denying that our baby had Down syndrome, but very skeptical that he also had Klinefelters since it’s extremely rare to have both.

back to the waiting weeks. these weeks were interesting. we were both still grieving, but now had to turn our focus (as much as possible) on the immediate need to move cross country.

we had approximately three weeks left on our lease and logistically needed to get things moving as quickly as possible. the tough part, waiting to find out from our moving company when the movers would be able to load our house. fortunately, our move included the packing service, so we were only responsible for packing what we needed for potentially (up to) 90 days. also fortunately, we were planning to move in temporarily with my parents while we house hunted (more on our house hunt later! i promised this blog would be snippets of our life and not only about DS 24/7). these last two blessings made things a little less stressful, but don’t forget we still have our 15 month old to worry about with all the adjustments ahead. move-wise, things were moving (haha) along slowly, but surely. life-wise. that was a different story.

life-wise, we started sharing with our friends that we were moving and it was a mix of emotions. i was not sure how much more i could handle on the emotion front. we made the most incredible friends in Cali. some of the best of our lives. they were more than friends to us. truly, they were family. when you are cross-country from your families and living in a world that revolves around basketball, where holidays really don’t exist, you learn to rely on one another. us women bonded together while our men were on the road or working, literally, seven days a week for 9 months of the year. we became sister-wives of sorts – cooking dinner for each other, holding babies for each other so someone could shower or take the trash out, drinking and laughing together through the long road trips, and checking in on one another when the earthquakes struck (TWICE WHILE HOME ALONE!!!!!). these goodbyes were tough and they barely had enough time to sink in. i cried pretty much the entire flight to Atlanta…and this is honestly not an exaggeration. to our Cali family, i left a piece of my heart there with each of you ❤

down syndrome-wise, i was making connections. i reached out to two “friends of friends” who had walked this path in super awkward texts and emails. i will forever be grateful to both women for being so kind, open, welcoming, non-judgemental and encouraging. you helped me (and continue to) through my mess of emotions and lengthy list of questions. thank you for your patience and thank you for opening my eyes to this beautiful community. we may not have met in person, but i felt less alone in just a few conversations and emails. one of the best pieces of advice i was given at this time was to continue to connect with women and families in our situation.

i was then introduced to the Down Syndrome Diagnosis Network and their private Facebook group for women expecting babies with DS. this support group has been one of the biggest helps in this journey. it’s a safe place for all the questions, worry, ugly feelings, doubt, fears, etc. each of our journeys are different, but one in the same and everyone in that group only wants to help and encourage. it’s the opposite of everything bad you read about the internet and i love it. if you are going through the same journey and have not connected with these women on Facebook, i encourage you to click the link here or on my homepage and get connected. i promise it is worth it. i have spent a lot of my waiting weeks reading the posts in this group and connecting with these women who are all in the same boat. i learned, for me, connecting with the DS community started to get me hopeful and feel excited again about this pregnancy and baby. this was the first sign of my mental/emotional health gaining some strength again.

we finished up the waiting weeks with all our necessities packed away in 6 suitcases awaiting our flight to Atlanta. with only a few days left, we headed in to our appointment with the perinatologist at exactly 16 weeks + 1 day hoping to see a healthy baby and proceed with the amnio.

stay tuned for an update from that appointment and the waiting weeks 2.0 (hint hint)

IRR-32 — photo credit: someplace wild (aka our amazing photographer and 2017 maternity shoot location)

in darkness, there is light

i want to start this post off by first saying thank you for all the love and support you all have shown me over these last few days. i was hesitant to share the last post, but you have shown me grace and i am so grateful for that.

now to go back to the weeks following my last post…

we just received the results of my NIPS blood test (i will touch on this more later) and it was time to start sharing the news of my pregnancy. after all, i was almost 14 weeks pregnant and people would start to notice a belly soon enough. truth was, i was in denial about it all, but mike and i both knew it was time.

Mike jumped right in. he would share the news of our growing family and simultaneously share the challenges we were facing. he may not have shared all the gory details, but from my perspective, it seemed so effortless to him. for me, i was worried and scared. i was afraid of how our families and friends would receive the news. would there be joy like there was with Landon? would we be distanced from friends because our lives were about to be so different, they couldn’t relate? i don’t know why i let this get to me, but it did.

in all the darkness, there was light and it all started when i began to share everything. first with our families, who, while they were heartbroken for our struggles, were the most receptive. each and everyone of them promised to love our next little boy just as much as they love our current one.

second with my friends. all i can say is wow. i never expected to feel so loved and accepted, but i did. not to mention, once i shared what was going on with our sweet baby, my world felt a little a less isolated. one friend had a friend go through the same situation. the next friend had a friend of a friend who walked this journey. and each one of those friends insisted i connect with them. at the time, i was sure if i was ready to do that. after sleeping on it for a couple days, i decided it couldn’t hurt to connect with others. this was the start of more light.

third, with Mike’s job opportunities. God may have thrown us a major curveball, but he was also giving us the tools we needed to help us navigate this new life. the same day we received the blood test results, Mike accepted a new position with the Atlanta Hawks. we were going home. well, my home. this would bring us back to the east coast and close to our families. we would have the support of our families without requiring a cross country flight and major planning.

day to day was still a battle, but there was light and it gave me a sense of hope i had been missing for the last couple weeks. to all our friends and family who sent sweet texts, cards, flowers, ice cream (you know the way to my heart), emails, messages, phone calls, etc., THANK YOU. from the bottom of my heart, thank you for truly making this girl feel loved. we have the most incredible village.

finally, i have to acknowledge my incredible husband for bringing us some light. we have had a blessed marriage, not without its struggles, but this was our first real hurdle. Mike has seen me at my best and at my absolute worst (this might have been it) and has loved me all the way through. he’s been our rock and i know we will come out on top of this.

don’t get me wrong, i was still in tough place. with all the love and support lifting us up, i was starting to see the light.

before i sign off, i want to address the medical side of things. at this point in time, we still did not have a true “diagnosis.” the NIPS is still only a screening test with a small margin of error. the test results were positive for down syndrome and klinefelters syndrome (the sex chromosome abnormality i mentioned in the last post). it is extremely, extremely rare for a baby to have both chromosomal abnormalities. the NIPS test is very accurate for detecting down syndrome, but less accurate for the sex chromosome abnormalities. we decided at this point in time, we would move forward with an amniocentesis to get a diagnosis and potentially rule out the klinefelters. the amniocentesis would have to wait until I was at least 16 weeks pregnant.

the dark days

editors note: this post is lengthy. it is a completely, transparent, honest recollection of my days following the first sign of bad news. i am embarrassed by many of my thoughts and emotions, but i said i was going to be honest when i started this blog. i can only speak for myself, so i briefly touch on Mike throughout these days. please know, this is NOT how i/we currently feel. we have come a long way since these dark days.

still in shock from the appointment, we finally got Landon to sleep for his afternoon nap and have a brief moment of reflection. we hugged and held each other for what felt like an eternity. i was hoping it was all a bad dream and i would be waking up from it soon. i decided to run out to grab takeout for dinner, because there was no chance i was going to be able to focus on putting together a meal for the evening. i was alone in my car when i received a call from my mother-in-law and that was when it all really hit me. something was wrong with our baby.

the tears started that afternoon and never really stopped after that. same with the flood of questions, fear, doubt, worry, confusion, etc. i was truly grieving. grieving the life i had once pictured for our future – our marriage when we would be empty nesters (likely not a reality anymore), the future for our family and kids, what that future would look like, what our family would look like, what opportunities our children would have in life. the hopes and dreams i once had, all seemed to fade away fast. i grieved it all.

in those initial moments, i was confused and angry with God. we are both very faithful people, but i started to question it all. how could God want this for us? how could he want this for any child? what is He trying to show me? what did i do to deserve this?

in the midst of all the emotion, there were real decisions that needed to be made. how were we going to proceed next? we had three days to decide what type of testing to do. we dove into researching the options to make the best choice for us and our baby. when we left our appointment on Thursday, the genetic counselor was pushing for a CVS procedure (invasive procedure with a risk of miscarriage, but is a true diagnosis) over a noninvasive, blood test (NIPS) that was not diagnostic, but pretty accurate in screening for the chromosomal abnormalities. the genetic counselor was pushing the CVS to make sure we had plenty of time to decide how we would proceed with the pregnancy should we receive a positive diagnosis of chromosomal abnormality. translation: if we would terminate or not. i was NOT prepared for this idea. neither was Mike. i think it hit us both like a semi-truck. it was never in our hearts or thoughts, but now we were faced with the reality to discuss it.

chromosomal abnormalities come in a wide range – trisomy 13 & 18 (typically not compatible with life), trisomy 21 (Down syndrome), and sex chromosome abnormalities (in the grand scheme of chromosomal problems these are not hugely impactful on developing life). where our little baby would fall into these categories, we did not know. did we want to know now, so we would not be left to wonder for days? or do we keep our baby safe for as long as possible and endure the wait?

by monday, we had decided no matter what was going on with our baby, nothing would change the course of this pregnancy. we met with the second genetic counselor and decided to opt-out of the CVS procedure and do the non-invasive blood test. this genetic counselor provided more insight to my blood work and said it was more consistent with a trisomy 13 or 18 case, rather than a Down syndrome case. truthfully, we did not know what to make of this news, but knew we had more research to do. a prick to the arm later and we left with more uncertainty to wait for the results.

the waiting game is the absolute WORST. no matter what the situation – job interview, medical tests, a date to call you back, buying a house, etc. in the period of waiting, you are met with anxiety, fear, sleepless nights, lack of interest, appetite, and STRESS. this was our reality for the next 7-10 days. i would be sitting and playing with Landon, when i would be overcome with sadness and start crying. i would look at him and wonder what this meant for his childhood. would he only know hospital and doctor visits for his baby brother or sister? would he be as carefree as a child should be? would he have the same opportunities as others or be hindered by what is going on with the family? suddenly, i would end up in a dark spiral of thoughts. all valid, but all unknown. only God could answer these questions.

thankfully, i was not alone during this time. Mike took time away from work to focus on our family and our mental health. he was grieving like i was, we just grieved in different ways during this time. some days he was the strong one and others it was me. some days I could feel confident trusting in God’s plan for our family and others I was a total mess, filled with doubt. it was truly a rollercoaster of a week.

to add more fuel to the fire, this same week of waiting for updates on the health of our baby, Mike was in the process of renegotiating his contract. were we staying in California or moving away? between the work stress and baby stress, we were ready to explode. all the uncertainty was placed on our shoulders at one time. we were being tested as parents and partners.

God has a funny way of working, though. after all the uncertainty with baby, He opened up an opportunity for Mike to return to Atlanta. that meant, potentially moving back to my home and have the love and support of our families nearby. it’s like He said, “i may have given you a lot to handle, but i will help make this easier to manage.” the Atlanta opportunity was a total God wink.

on Monday, July 9, 2018, we learned the results of my NIPS. positive for Down syndrome (90% chance) and much to our surprise, positive for a sex chromosome abnormality. we weren’t planning to find out the gender of this baby (just like we had done with Landon), but we had questions about the sex chromosome abnormality that could not be answered without us finding out. we are having another boy!

in my next few posts, i’ll touch more on the subsequent days, telling our friends and family, and the continued grieving process.

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.

jumping in.

hi. if you are joining me here, you probably just read my instagram post, or heard from a friend, or from me, Mike or my family about this crazy idea of mine to start a blog. truthfully, this is something that has been on my heart for quite some time, ever since we learned the initial shocking news about baby #2. and truthfully, it’s very scary for me to share my life with the world, so i am jumping in head first.

if you know me more personally, you know i lay awake most nights with thoughts and feelings running through my head. i decided, for me, that it would be most helpful and therapeutic to get them out, to make a journal of sorts. and that is where this blog was born – 2 am, awake with my feelings.

my hopes and goals for this space are:

to provide a place where friends and family can stay up-to-date with our journey during this pregnancy and into parenthood with two under two
to be an advocate for our baby and share resources we have found helpful
to connect with others walking a similar path
to *hopefully* ease my mind (and get a little more sleep at night)

if you happened here by chance, or just have no idea what i am talking about, my name is Stefanie. i am recently 30 and currently pregnant with our second baby who has been blessed with an extra chromosome. it’s extremely rare for my age, but there is a 90% chance our baby will have down syndrome. we will know more definitively what is going on with baby in the coming weeks. more on that later.

in the meantime, i ask that we keep this space positive and full of prayer. if you know anyone who is sharing in this same journey, please share this with them. feel free to comment! i would love to connect with everyone.