Klinefelters – Down Home with the Irrs

a difference i wasn’t expecting

i intended to write this post for Brady’s one month, but here we are two weeks later and our little bug is 6 weeks old and NINE pounds! whoop, whoop! it’s crazy to think Landon was only few ounces smaller than this when he was born…woah.

i’ll kick off this post with all things medical for Brady. i have been getting a lot of questions about his appointments, so i figure i’ll clear that up and then move on into what has been on my mind and heart.

medical updates – Brady continues to do well with eating and gaining weight. his main specialist we see is his cardiologist to monitor his heart, breathing, and weight gain. surgery is still on the horizon, but as long as he is doing well, we will push it out as long as possible. that could mean 4-6 months, 9 months, 1 year, etc… this definitely drives my “planner” side a bit insane! the plan is no plan as of yet.

we are on a “typical” schedule with his pediatrician at this point. next appointment will be when he is 2 months. we graduated from heavy monitoring for now. we also are able to feed on demand at night, which means we are going 5 and 6 hour stretches now and feeling a little more human.

yesterday, Brady had an appointment with the director or the Emory Down syndrome clinic. it just so happens that the doctor is also the director of the new X and Y Chromosome clinic (side note: of all their patients, they have only one other little boy with both Klinefelters and Down syndrome). after her initial examination, we have been referred out to ENT, ophthalmology and swallow study. i had a feeling we were in a little calm before the storm.

we have our evaluation next week with Babies Can’t Wait and we will see which therapies Brady qualifies for. initially, we anticipate PT once per month, but depending on swallow study results, we could be seeing OT and feeding therapy more often. PHEW.

now on to what is really on my heart. it’s something that i had feared during my pregnancy, but never anticipated would be so different.

who does Brady look like?

with Landon, there was an overwhelming response of friends and family saying “he is a mini-Mike” or “he looks just like you!” or “i see so much of your family in him!” with Brady, there was hardly any of that.

our families, of course, made these comments and compared similarities between Brady’s features and our families/Landon. but from other friends? i can probably count on one hand the number of people who mentioned which one of us they think he looks like. when i think about that for too long, i get sad.

when i look at Brady, i don’t see Down syndrome. i know i am his mom and i am blinded by his adorableness and my love for him, but this was also something i feared while pregnant. will i look at him and only see Down syndrome? will i be able to see beyond his diagnosis?

it’s silly to me, now. so i do understand why it might not be as easy for others to see or talk about or feel comfortable mentioning to us. that is okay. i am here to educate, enlighten, and hopefully ease the discomfort so that your next interaction with someone in similar shoes as us might be easier.

here is what i can tell you about this topic: babies with Down syndrome do have some distinct facial features like almond-shaped eyes and a slightly flatter nose. however, babies with Down syndrome look more like their family member than they resemble one another. Brady WILL look like our family/his siblings. good thing i don’t have to worry about him inheriting a full blown DiLegge nose! HA!

if you need a little help seeing it, i encourage you to follow a few other mommas and kiddos on Instagram:

you will see just how much the little ones look like their mommas and dadas.

photos curtesy of Perfectly Bliss Photography

brady’s birth story

it’s hard to believe my last post was at 37 weeks. i planned to write one before Brady was born, but took some time off with Christmas. then, all on his own, Brady decided to enter our world at 38 weeks 4 days. here is how that day went.

sunday, december 30 : my in-laws had just come in town the day before and we planned to use this day to get some things done around the house before it was too late. this included hanging the art and mirror in the nursery, taking down Christmas decorations, doing a load or three of laundry, packing our hospital bag and installing the car seat (better late than never). i remember looking at Mike at the end of the busy day and saying, “i just need you to do one more thing for me tonight. i need you to go install the car seat.” and THANK GOD we did!

monday, december 31 : i was woken up at 2:30 AM by contractions. this was not unusual for me these last few weeks. i would get one or two throughout the night that woke me up, but nothing consistent. the only difference this night is that they were relatively frequent – one or two every hour – making sleep next to impossible. i had flashbacks to Landon’s labor and started to get really anxious we were about to go down that road again.

my in-laws grabbed Landon in the morning and kept him pretty distracted while i was laboring at home. by morning, they were pretty intense feeling, but very inconsistent. some would be 5 minutes apart, then the next 20 minutes, then 15, etc. mike nervously headed into work and promised he would be back as early as he could. i reassured him this was not real labor, that this was very reminiscent of how Landon’s labor began. i told him i was going to take a bath to calm them down.

back story – Landon’s labor, the semi-cliff’s notes version : we were out in Cali at the time and had no idea what to expect with labor or delivery since it was our first baby. i began to have contractions 72 hours before being admitted to the hospital for delivery. they were the kind of contractions i had to breath through and couldn’t talk through. i would be hunched over the sofa with my mom rubbing my back and praying that the baby would just come already. when those contractions became consistent enough for long enough, we headed into the hospital. the first time – “sorry, ma’am, you are not in labor. you are having contractions and pretty consistent, but nothing is happening to your cervix so it’s not considered labor.” ummmm excuse me, what?! they asked if i wanted some morphine sleep so i could at least get SOME rest (i hadn’t slept in 24 hours). i declined thinking that if this is not real, then i have some MAJOR pain ahead of me.

we headed home and i laid awake all night with contractions. day two came – same charade. my mom is begging me to go into the hospital and i am saying, they told me not to come back until they were more intense. that night, we went back to the hospital to get me some medication so i could at least sleep. after being sent home again, this time with the drugs, i was able to get a little rest (aka 3 hours) before it wore off and the contractions came back with a vengeance. by morning, i was at my wits end. i told mike we had to go back and i would force them to admit me. i could not go through another day/night without sleeping and contracting all day. we head back in and to our surprise they tested me to see if my water had broken, and thank G it did, because that was a sure way to get me admitted! it would be another 48 hours before I actually delivered Landon, but that part of the process is another story for another day…. or maybe not since it was so traumatic.

anyway, point of all this Landon back story – THIS felt like the same pre-labor, labor. not consistent enough, not intense enough. they call it prodromal labor.

back to Brady’s labor : i figured they would sent me back home and i could not handle that all over again, so i chose to ride it out at home for as long as possible. the bath helped, it soothed things a little, but not enough to try to nap. i distracted myself as much as possible, but the contractions kept coming. again, i was bent over the couch, on all fours, etc. trying to manage the pain. i finally caved and called our doctor office to reach the on-call doctor. keep in mind it’s a holiday, so i had to go through a different answering service to finally get to the doc. he called me back very quickly and i explained what was going on and what happened during my previous delivery.

he agreed with me that it was like pre-labor and to try to relax, drink more fluids, and even drink a glass of wine (off the record). at this point, i happily obliged with the wine and it seemed to push the contractions back to 15 min apart instead of the 5-7 minutes they were before. i decided a hot shower was in order to keep things calm, however, that did not work like the bath did…

by this point, it’s 4 PM and contractions were coming 2:30 – 4 minutes apart and i had enough. i call Mike up to our room in a panic and tell him to call the doctor back and tell him we are coming in regardless. if it wasn’t real, i needed something to let me rest for the big day. if it was real, well then i would rather have a baby in the hospital than our bathroom floor. after talking to the doctor for 2 minutes, we all agreed it was time to come in.

we grabbed our bags, called down to my in-laws we were leaving and were out the door. thank goodness we only live 10 minutes away from the hospital and could be in there quickly. i definitely felt like that woman in the movies though…we get to the hospital and i am contracting every 2-3 minutes. i have to sit through the admission process (even though i did all the pre-admission paperwork, so someone tell me the point here…) and between contractions give my information to the woman. after that, they sit me out in a waiting area for the nurse. i am sitting between two other pregnant woman who are more visibly pregnant than i am and they are just straight up chillin’. meanwhile, i am trying not to cause a scene in the hospital lobby and banging my head into Mike’s arms with every passing contraction.

FINALLY a nurse comes to get me and we are off to the room. immediately i tell them i want fentanyl to take the edge off so i can try to rest (or nap) for a little bit (jokes on me). problem was, there was still more paperwork for me to sign and they had to draw my blood and send it off to the lab before they could give me any medication. the nurse decides to check me in the process of waiting and, SURPRISE, i am 4 cm dilated.

this was it, folks. real freaking labor. hallelujah!!! still waiting for labs, and laboring with contractions every 2-3 minutes, when the on call doc comes in to check on me. i had never met him, but he was exactly who we needed to be there at that moment – good rapport, witty, compassionate, brilliant, and experienced. he promised me he would not let our baby get stuck and he was going to come out on his own most likely without need for a c-section.

thirty minutes passes and i am hooked up to the fluids in anticipation of an epidural, when WHAM, i am 7.5 cm dilated. i look at Mike and say, “if that anesthesiologist doesn’t get in here in 5 minutes, i am going to lose it!” my body was shaking uncontrollably and i was on the verge of vomiting from the contractions and pain. the doc tried to talk me out of the epidural since i had done “the hardest part,” but sorry, doc, no can do! in the knick-of-time i got my epidural and could finally relax for a brief moment.

mike and i were so in shock with how quickly things progressed. total opposite of my first labor and delivery. our moms had arrived to the hospital with dinner (for mike) around 7:45 PM. mike literally left to pick it up when the doc comes in to check on me. takes one look at my contraction strip and says, “yup, it’s time to have a baby.” so calm and nonchalant. in walks mike, 5 minutes later and i say “babe, we are about to have a baby!” this all cracks me up now. how relaxed, yet not, the whole scene was. they start calling to prep the room and when the doc says it’s time. the NICU team and prep nurse hadn’t even arrived yet. one and a half pushes later, Brady entered the world at 8:14 PM.

both Mike and i were overcome with emotion. for me, it was both tears of happiness and terror. i was excited to meet our second son, but now i could no longer keep him safe and healthy. i didn’t hear cries at first which intensified my fear. mike was with him and the NICU team examining him (they arrived 1 minute after birth). i couldn’t see much, but i was getting thumbs up that things looked okay. the neonatal team decided he was adjusting well on his own that we were able to avoid the NICU and headed up to our postpartum room all together that night. with five minutes to spare on the clock, we turned the TV on in time to watch the ball (and peach) drop for NYE. the perfect end to our 2018. good thing we installed that car seat, huh?

the final countdown

it’s me again. sorry, i went dark for the last week plus (by accident). we have had a crazy week and keeping up with my updates kind of fell by the wayside. i’ll start from the top though!

first, we had a lovely visit with my in-laws. Landon just loves all the attention he gets whenever they are in town. literally all eyes and hands on him ALL day and night. that cute little stinker knows how to work his crowd. while here, we visited the Pink Pig, which he was NOT a fan of (see below) and the Garden Lights exhibit at the Atlanta Botanical Gardens. he, and everyone, absolutely loved the botanical gardens. it was seriously magical. don’t let his face fool you in the photo from the botanical gardens. he LOVED it. i think he just doesn’t like taking photos with me…more on that later.

the pink pig

seriously he was loving the botanical gardens

my MIL and i worked on some nursery projects as well. we thinned out the faux fiddle leaf fig tree and started painting the infamous green dresser. y’all, i decided on a paint color and i love it. now i just pray, pray, pray that this actually works and doesn’t chip off right away. it’s been a rough go with the paint already, but i am blaming the wet weather and cold weather for that. i just don’t think it is actually drying completely. we’ll see.

this past week, i did get a little ME time. it was long overdue. i had a lovely dinner with some college girlfriends that i haven’t seen all in one sitting since moving back. my heart needed that big time. i also got to escape for a hair cut (which took WAY too long, but oh well) and lady hawks holiday dinner while the team was out of town. all in all, a great week for Landon and i, full of lots of love and fun. only downside, we are still sick. ALL of us.

other life updates before i get to the pregnancy related ones, we failed at our rain date for family photos AGAIN because of….wait for it….RAIN. UGH. then due to Mike’s schedule, we had to schedule them for Tuesday evening. bright sunshine, but freezing. i did not adequately plan outfits for us for freezing temps because we were planning to take these a month ago, so the joke is on me. i only have myself to blame for the cranky husband and crying toddler because everyone was too cold and i thought we could “tough it out” for 30 minutes. NOPE. there’s no toughing it out when you are a toddler who doesn’t understand why we are running around in the cold weather with some stranger following us. luckily, our photographer is INCREDIBLY talented and was able to catch a few smiles and beautiful shots of our family (and my belly). we just might be those people with bright blue snack cup front and center in the photos. anything to keep L happy. i cannot wait to share them with you soon. lesson learned – be prepared with cute outerwear for the family just in case.

little bug/pregnancy updates – it’s the FINAL countdown. t-minus 4 weeks and there will be a baby here. that is NUTS. time to kick our butts in gear and really get things moving with preparation (aka buying diapers, laundering clothes, finishing the nursery, getting the car seat ready). we started our weekly testing last week and since have had two BPP tests and one NST (my second is today). little bug passed his BPP tests with flying colors, scoring an 8 out of 8. the NST was a bit of a different story. he’s not very active in the morning and that is when these tests are occurring. basically, he decided it was the perfect time to nap when i needed him to be active. so what should have only been 20 minutes on the monitor turned into 1 hour on the monitor. thank goodness he ended up passing, but that was stressful. i’m planning to make sure he has all the reason to be awake for the test today.

things are feeling a bit more real and a bit scarier. he’s nice and protected on the inside. it’s the outside world that terrifies me. with cold and flu season at it’s peak, i worry about protecting him and keeping him healthy. we are already a house full of germs! i am working on us first so that we can be 100% when it’s time for his arrival. i started diffusing essential oils last night and will continue to do so until we are all feeling better. if not, medical masks are waiting in my Amazon cart. that is not a joke. if you have any essential oil blends/tips that you love, please send them my way! i am a total newbie, but hoping to fall in love with them like everyone else.

i promise to keep you guys updated more frequently now that we are in the home stretch. i’ll be sure to post my NST results on IG if you follow along there. again, thank you all for the love and support during this journey. we are getting close to meeting our little dude and navigating the new road ahead. this anxious momma appreciates the hugs and encouragement.

tests.

happy Tuesday, friends! i hope everyone had a wonderful Thanksgiving and survived the craziness of the shopping over the last few days.

our Thanksgiving was wonderful. Mike had the whole day off. like off, off. like did NOT have to go into the office for even just a couple of hours. it was very much needed and magical to spend the morning the three of us preparing to head up to my parents’ house for the DAY. because we can do that now. we can go spend a day, an afternoon, an evening, an hour with my family and i will never take that for granted.

this was the first Thanksgiving in 3 years that i did not have to cook a turkey, clean my house, and spend the week stressing about how we are going to fit everyone into our tiny little space. i still wouldn’t trade any of those Thanksgivings, but i was very grateful to show up, bring dessert, help with cooking and head home when we were ready. this was also the first Thanksgiving we were not planning the meal around a flight time because there was a road game the next day and Mike had to leave. BLESSINGS. it’s the small things in the irr household.

after all the calmness of Thanksgiving came the stress of black friday and cyber monday shopping. does this give anyone else major anxiety? i am a deal seeker. i hardly ever pay full price for something (unless i am shopping small) so this is when i like to get the majority of my Christmas shopping done. this year was more than just Christmas, it was all the baby gear we need to get, nursery items, home decor, etc. so i was feeling the pressure.

let me tell you…i failed miserably at the UppaBaby deal through Sam’s Club and this will haunt me forever. we need a double stroller and after much research and testing, we determined this is the best one for us. i had been waiting until black friday specifically to purchase it and BAM, i lost. no UppaBaby on sale for us. now i have to figure out how late i am willing to push this purchase because we have been spending machines lately with the house items and need to chill. i probably should buy newborn size diapers before i go buying a stroller. priorities.

other than the shopping over the weekend, if you follow me on IG and saw my stories, you have definitely seen the great green debate. i am starting to feel colorblind. what i see on screen, in store, on the swatch, is not what is coming out of the can. how can this be? after 5 samples, i am pretty sure i found the one. this week, on my never-ending list of to-dos, i need to paint and assemble little bug’s dresser. good news, my mom and i finished the wallpaper – HECK YES.

in all seriousness though, this week, we are facing a lot of tests. i will officially be 34 weeks pregnant and so begins my weekly testing. today starts with a biophysical profile (BPP) at the perinatologist and the week ends with a non-stress test (NST) with my OB. according to my OB, i should have my hospital bag packed now. praying that everything stays looking good and we have 5 more weeks until little bug makes his appearance. God knows i need all 5 of these weeks to prepare mentally and physically.

my in-laws get into town today and i couldn’t be happier to have the extra hands. i jam packed my week with appointments – so much so, that when the AV guy showed up yesterday to the house, i thought we might be getting robbed (because i totally forgot what day of the week it was and that i even made the appointment). only me. whoops.

on my list of to-dos: buy newborn diapers, a changing pad, figure out the stroller situation, finish the nursery, pack our hospital bag, paint and assemble the dresser.

next week to-dos: launder all of little bug’s clothes (aka Landon’s hand-me-downs), take out the bassinet, get the car seat ready, finish the nursery, finish the nursery, finish the nursery.

oh and at some point, i will decorate the house for Christmas and finish my Christmas shopping….

30 going on 31…weeks

not my age. although, i am recently (ish) 30. i can’t believe it’s November. i can’t believe i am about to be 31 weeks pregnant. i can’t believe we are about to have another baby SO soon. between the holidays and many tasks left to get done around the house, we are going to blink and baby will be here.

in the last week or so, not a whole lot has happened pregnancy wise. i had two appointments, one with my regular OB and one with my perinatologist. i learned a lot of things from these two appointments – basically for the duration of my pregnancy, i will live at the doctor’s office. ugh.

there is a much greater risk of stillbirths with babies that have chromosomal abnormalities and they want to make sure they catch any signs of distress ASAP. so starting at 34 weeks, i will go to the OB once a week for non-stress tests and the perinatologist once a week for biophysical profiles. that’s two appointments a week until i deliver. at any point in time, they could be telling me i need to go in and have this baby. looks like i have to add packing my hospital bag to my list of to-dos in the coming weeks!

other things related to little bug and momming life – our part-time nanny started last week and it has been life changing. the first day went great! i was able to focus on things i needed to do around the house, get myself dressed without having to chase a toddler around while brushing my teeth and even got some work done (gasp!). the second day, Landon realized i wasn’t home and was overly tired which made for a tearful morning. i am hoping this phase will pass as he gets to know her more and by the time little bug is here, he’ll be excited to play with Ms. Mallory. we also picked a pediatrician and it feels great to have that sorted out. i hope my gut is right with this choice and we come to love him as the medical professional protecting our children.

life updates – our first halloween in the new house was a semi-success. i say “semi” because Landon was in a sour mood and was not at all interested in going house to house (i know he’s still young). instead, he just wanted to wander the street and stare at all the big kids in costumes. we also ran out of candy by 7:30 PM, soooooooooo now we know! our neighborhood closes off the street in front of our house so kids can roam safely. it turns into quite the crowd from neighboring streets and two costco size bags of candy just wasn’t going to cut it.

life lessons i have learned this week – i am not alone in my thoughts and feelings. the support from each of you has been incredible and i find comfort in knowing that we are going through a lot of this together. whether related to a baby/child or something totally different, there is a common thread between the struggles. i also learned that while your child is getting their molars, ALWAYS give Motrin at night even when you think they are doing better. the TWO nights i didn’t give L his Motrin, resulted in a 4 AM wake-up (the night before Halloween, so probably why he was cranky) and 3 AM wake-up just a couple nights ago. i am exhausted and definitely coming down with something from the lack of sleep. my goal, more Motrin and take naps 🙂

PS my friends from Cali are coming to visit this weekend to go to their first ever SEC football game. i couldn’t be more excited to visit with them, but also get back up to Athens to cheer on my Bulldogs!

the waiting weeks 3.0: life changes

i’m still working hard to get you guys caught up to the present – 23 weeks. WHAT?! is this normal second pregnancy problems? time is FLYING and i haven’t taken a single bump picture… but first, back to weeks 18-20 aka the waiting weeks 3.0

anyone else a Thomas Rhett fan? the song Life Changes seemed to pretty much be my anthem then (and still now). never in my wildest dreams did i think our lives would be where they were/are.

Ain’t it funny how life changes
You wake up, ain’t nothing the same and life changes
You can’t stop it, just hop on the train and
You never know what’s gonna happen
You make your plans and you hear God laughing
Life changes, and I wouldn’t change it for the world, the world, oh no
And I wouldn’t change it for the world, the world, oh no

weeks 18 and 19 we found ourselves in a whirlwind of life, attempting to settle in. all of a sudden, we were under contract on a home and doing the necessary inspections to make sure we were 100% certain this was it for us. we were busy getting Georgia licenses and tags, finding new doctors for Landon and i (which is more challenging than it seems), and setting up those necessary appointments. we did get to throw in a quick weekend trip to Hilton Head, which helped recharge our batteries a bit. needless to say, waiting the 10-14 days for the amnio results was not that difficult.

we had already accepted the results from my NIPT prior, so we were really just waiting for a confirmation, a true diagnosis doctors would recognize. i had my first appointment with my new OB before the results came in. she was wonderful and caring. and for the first time this pregnancy, i did not feel like i was being treated any different than a mother expecting a typical baby. i don’t know why, but i cried at that appointment. it was probably a combination of life stress, emotions running high with this little bug, and just being hormonal. i promised her i would not cry at my next appointment… whoops!

the outcome of that appointment was exactly as i expected. i needed a referral to a new perinatologist where i would get my 20 week anatomy scan done to check on the health of little bug and continue to monitor the “abnormalities” found at previous scans.

a week later, we were in the perinatologists office for the ultrasound and armed with our amnio results. we are having a SupIRR baby. little bug is confirmed T21 and Klinefelters. i’m not sure if you have been keeping count, but make that a whopping 48 chromosomes to your typical 46. boom. he’s superhuman 😉 like i had mentioned, it is extremely rare to have both syndromes, but both can peacefully co-exist. the Klinefelters markers will most likely be overshadowed by the Downs and that is perfectly okay.

upside of the amnio results, now we had a diagnosis and doctors would stop looking at our baby with the typical lens and instead look at him in the spectrum of health related to these syndromes.

the 20 week ultrasound was probably the first time we went to the doctor and did not get any more “bad” news. little bug actually made some good progress! his growth was great! the signs of the brain abnormality seemed to go away (which was always a possibility) and the echogenic bowel was no longer present. PRAISE GOD! little bugs heart was still showing a defect, but this perinatologist felt more optimistic about it than our last. we were referred to a pediatric cardiologist for a fetal echo which would be done at 22 weeks (more on that later). all in all a good appointment!

Landon had his 15 month appointment (a little late), but 3 shots later, we were all caught up on life things at the moment.

i feel like i need a nap just from reliving this moment in time! looking forward to getting you caught up to the present. we’re probably one post away from that!

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)