{Matters of the Heart}

A little past 20 weeks, I first met with the Maternal Fetal Medicine Specialist, Dr. G. He came highly recommended and I noticed in a local DS group I’d joined, that searching his name he’d popped up a couple of times, all with positive remarks. Michelle was our ultrasound technician that morning and she handled 80% of the appointment. She had a wonderful bedside manner and was both positive and informative throughout the scan. She was the reason this appointment was bearable; I need to make sure and thank her for that.

There were soft, medium, and hard markers:

1. thickened nuchal fold
2. shortened femur
3. shortened humerus
4. flattened facial profile, nasal bone absent

But obviously none of this news was a big shock…we already knew she has Down syndrome.

And then Dr. G came into the room to review screenshots of the scan, listened to Aria’s heart, and focused in on the chambers and valves of her little heart. It’s amazing to me how much we’re able to tell at just the halfway point. There’s so many intricate details to her organs, already developed.

Dr. G was in charge of delivering news; there are things that we needed to be aware of: 

• He reviewed how we learned news of Down syndrome. We had a brief talk about Positive Predictive Value of the NIPT. Let me be clear, with 99.9% accuracy AND the soft, medium, and hard markers, in addition to factoring in my “advanced maternal age”…PPV didn’t come into play for what we anticipated for Aria. She has Down syndrome.
• Then he educated us a little more about Trisomy 21 and how the placenta also contains that extra chromosome. There’s still a lot we don’t know about Tri 21 and how it affects the placenta, but what they do know is that in some cases there’s issues like intrauterine growth restriction, placental failure, placental insufficiency, etc. I specifically asked about delivering at 38 weeks after finding this specific study   In his opinion, delivering Aria earlier (even for instance with early signs of distress) would still ultimately lead to death. 

***At this point, I’m praying silently that I’m so thankful my OB Dr. F had already shared that in cases of fetal distress, he wanted to deliver early to give her the best chance of survival. Dr. F would be the one to deliver her anyway, thank you God!***

• Heart defects are also common in about half of all DS cases, but pediatric heart surgery isn’t something to be worried about since so many advances have been made. And then this segued into Scott’s nightmare coming true…

Dr. G told us how our Baby might be born with purple extremities due to circulation issues. And she might tire very easily and have a difficult time staying awake. Specifically, there was some sort of “Septal Defect” (I wrote down AVSD but I also heard him say VSD…my head was spinning a little at this point even though I was jotting down every bit I could). He explained about there was a gap in the wall, or what was also referred to as a “hole in the heart.” He wasn’t able to determine exactly where the hole was, so we’d schedule a fetal echocardiogram in a month to see if we could get a clearer look.

Aria’s heart, her life…it’s out of our hands, out of our control. 

But we know who is in control. And we call on our Lord. Psalm 30:2

{Just Because}

I originally declined my standard anatomy scan with the OB's office. I already knew Baby was a girl, and had already been referred to a Maternal Fetal Medicine specialist for the targeted ultrasound and fetal echocardiogram. No need to look at her again, right?

BUT, then it hit me: why wouldn’t I want to treat this pregnancy just like my others? So I called back to make sure at my halfway-point OB appointment, that I’d have the chance to have a complete OB appointment scheduled (including the anatomy scan). I’m so thankful I did…look at our gorgeous girl!

Aria was extremely active during her scan. She kept flipping from her stomach to her back and would often put her hand in her mouth. I also learned I have an anterior placenta, which means it should be more difficult for me to feel her movements, but this little girl loves to HIT and KICK hard...she's already our little fighter!

{Embrace An Action Plan}

We know Aria Joy has Down syndrome. What do we do about it?

Well this Type A, list-making, over-planning, goal digging mom knows we need a plan of action in place. It’s what will help me move forward, essentially evolve from coping to embracing, but will also give me something palpable to do while we’re waiting for Aria’s debut. Let me tell you, finding out the news at 11 weeks means that there’s a LOT of time to think, plan, and prepare which is much more productive than using that time to worry, stress, and grieve (not that I won’t still struggle with bouts of those last three).

A month after learning that Aria has Down syndrome, I’d taken in a good amount of information (again mostly via Dr. Google, DS sites, DS blogs, a couple of books), and I had a good list of questions going into my 15-week OB appointment. I’m sharing notes from my Prenatal notebook, in case it might help someone else with follow-up questions they’d want to ask their OB:

• Which Subspecialty Consultants will I meet with; who is recommended? 
• Maternal Fetal Medicine Specialist (also known as a Perinatologist)
• Pediatric Cardiologist should there be a heart defect detected
• Geneticist we’ve made the decision to hold off pursuing this until after Aria’s born and her karyotype determines what type of DS she has…if in the rare case that it’s Translocation, then we’ll opt for additional testing to determine if this is something that might affect Mason and Dakota Kate 
• Pediatrician we’re extremely blessed that our children’s current pediatrician is actually on the Board for our local Down syndrome group. He is extremely well-versed in dealing with babies and children with DS as well as having a softened heart and passion for caring for these children
• When will we have our Targeted Ultrasound? 
• What about a Fetal Echocardiogram?
• Why is there an increased risk of stillbirth; is there anything preventative that we can monitor?
• The day the news was delivered, a C-section was suggested as our course of delivery to decrease putting additional stress on Baby’s heart and to give her a best chance at survival. If there are no heart issues and no signs of distress, will this surgery still be recommended?
• When will the non-stress tests begin? At what frequency?
• What are statistics for a NICU stay? Is this something we should anticipate?

{Pop Fizz Clink!}

Happy New Year!

{Pity Party of One}

We were still in the midst of Christmastime so the season helped insulate some of the emotions, although I can genuinely say there were times when I grieved:

I was sad our little girl wasn’t going to be fully healthy. 

I was sad that she’d have a lifetime of dealing with challenges. 

I was sad that medical expenses can be 12 to 13 times the typical amount. 

I was sad thinking that our older two would miss out on attention because we’d have to attend more to Aria.

I was sad that it’d mean there would be trips we couldn’t take and activities we couldn’t do.

I was sad that she’d very possibly be solely dependent on us her entire life.

But by the way, all those things I was so sad about, I came to realize they were all out of ignorance. As I continued furthering my Dr. Google studies, read books about Down syndrome, and binge-watched the reality show “Born this Way” (clearly all very scientific research), I learned those concerns and worries were unfounded. Yes, some cases are severe, but the overwhelming majority of Down syndrome cases are mild to moderate. 

I’m thankful we first learned the news during Christmas Break. We were shielded from our normal routines, it gave me some respite during that time and a chance to attend to emotions and educate myself about Down syndrome.

So I had my pity party over the course of a week or two, then realized it was time to move on and prepare for Baby.

Oh and lest I forget, thank God: Scott and I immediately agreed on a name.   Aria—we’d chosen that as a girl name before our summer miscarriage. And for the middle name, I suggested either “Joy” or “Grace.” He wanted Joy. Because we know this little girl is going to bring so much joy to our family, to everyone's life she comes in contact with.

We’re getting ready for your arrival Aria Joy!

{Let's Talk About DS, Baby}

My sister-in-law called. Her reaction was the BEST. She immediately congratulated me and told me about how excited she was since I’d get to plan sister-sets (coordinating clothes for the girls). And she reassured that Mason would be fine, he’s devoted to Dakota Kate so this baby will be no different. 

She suggested that when I was ready, I should watch the A&E reality show “Born this Way” because it was like a “Real World” version (although much more tame) of adolescents with Down syndrome. And she advised that this baby will likely be the favorite grand baby because she’s so special. (Gigi, those were her words, not mine!) But I know she’s right.

She didn’t show pity, didn’t view the news as negative, and was genuinely celebratory and supportive. I just adore her!

_______________________________________________

And then I shared the news with a very select few of my closest friends a couple of days later. I still had to process things. It was all so raw. 

They were good listeners, and prayer warriors. 

God provides.

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But in the spirit of full disclosure, I often found it easier to exclaim news of Aria’s Down syndrome to either random strangers or acquaintance-friends if they inquired how my pregnancy was going. 

You know how sometimes people just say “Hi, how are you?” and only expect in return, “I’m great, how are you?” Well, my news-blurts usually started with an innocent question on their part like, “How’s baby growing?” or “When are you due?”…I found it tough to navigate explaining that I’m due in July, but that Dr. F was already preparing me for an earlier C-section (surgery would be a first) and would deliver Baby Aria early if there were any signs of fetal distress. 

My apologies to those who received an unexpected earful! 
_______________________________________________

And I'd be remiss if I didn't mention how Scott handled telling people. I'm very proud of him. My husband, whose only sibling had severe mental retardation, was groomed and prepared for this. He broke the news matter-of-factly, and made sure to stress that there was no shame attached at all---he simply said, "the Down syndrome thing doesn't even bother me," his primary concerns were centered around Baby's survival and specifically whether she had any heart defects.

God provides.

{Diagnosis Day}

Dear Beloved Baby Girl,

You are precious to us- you have been prayed over and cried over, we can hardly wait to finally meet you. 

We found out news today that you're going to have some challenges-but in this world, everyone has them in some shape or form. This world is not our home. Still, you will face life differently and will have to overcome things that others don't have to struggle with. 

It's not fair.

But you will be our brave little girl. And you will fight for it, and we will fight with you and love you. 

Hard.

God entrusted us with your care for some reason, and I feel honored to be your mom.

Love,

Mommy

_______________________________________________

It was my 11 week OB appointment. 

One benefit to being “Advanced Maternal Age” this pregnancy is that Noninvasive Prenatal Testing (NIPT), which are cell-free DNA screens from a blood draw that can separate maternal DNA from fetal DNA, is covered by most insurance plans. What results is highly-accurate (>99%) screeners for chromosomal abnormalities as well as early detection of the sex of the baby.

So basically, that’s a long-winded explanation of why I was thrilled to be able to find out the sex of our baby at 11 weeks versus the typical wait of 20 weeks at an anatomy scan.

I recall being seated in the exam room, I’d just had my blood pressure taken and asked Nurse V whether my MaterniT21 test results had come back yet (that was my specific NIPT). She left to check my charts.

And then Dr. F came in. He sat down, opened up a plain manila file folder and said, “Well your test results came back in, and your baby tested positive for Trisomy 21, also known as Down syndrome.” 

My eyes welled up with tears, but I was refusing to let any of them fall. I remember trying so hard to stay positive. After enduring a year’s worth of loss through the deaths of Scott’s Mom, his Gran, his sister, our pug…and after trying all year for a third child and suffering a miscarriage just 5 months prior to this. THIS was going to be okay. Right? The baby’s still alive and growing?

I mean I don’t even know exactly what else Dr. F said in those next few sentences, but I do remember his compassionate demeanor when he simply stated, 
“I bet that’s not the news you were expecting.”

No, no it wasn’t. I remember still processing things, but making sure to ask, “What’s the gender?”

I was happily surprised to hear “Girl.”

Of course earlier in this pregnancy I’d read up on some Ramzi theory, that’s based off placental placement, and was so certain the baby was a boy. I was so sure I’d already bought boy things, five special occasion outfits to be exact and maybe a few blue and grey accessories (bibs, toys, pacifiers). Also, Scott and I had only discussed boy names as well, although I’d vetoed every single one of his crazy choices: Vladimir, Han Solo, Kaiser, Seamus…Yes, good grief- we were at a naming stalemate! Hearing news of a baby girl came as a small relief in the midst of everything else.

And then there was more scary news aside from the shock of just hearing the words: “Your baby has Down syndrome.” Dr. F was very frank with me about miscarriage and stillbirth statistics. He said in Down syndrome prenatal cases, 1/3 will miscarry, 1/3 will be stillborn. That sucks doesn’t it? Prior to that I’d just thought to myself and may have even said out loud, “Out of all chromosomal abnormalities, I’m glad Down syndrome is something more familiar and has better survival rates.” That morning was hazy but I’m fairy sure I did make that statement and it’s what prompted Dr. F to share those statistics. 

Those tears fell. But I wiped them and knew I had to leave and call Scott and then Mom to let them know the news. They were both waiting to hear the baby’s gender after all.

I remember sympathy looks from the nurses upon exiting the exam room. I remember using every ounce of willpower within to not sob in front of other hospital patients and guests as I walked down the long corridors to the parking garage. I remember keeping composed, getting in my car and turning right out of the garage exit, and then left at the light. 

And then I called my husband.

There was no soft-landing to this news. I began bawling as I immediately exploded, “I’m so, so sorry! The baby has Down syndrome! She only has about 1/3 chance of survival at birth!”

I was so scared. Scared for the survival of our child. Scared of how we were going to do this. Scared of my husband’s reaction to the news. 

And he was okay. Maybe even fine about it. Scott told me that with my crying, he was worried something had happened to the baby. (ummm HELLO, she has Down syndrome) Bless that man! When I realized Scott was okay and still the same man I’d married. For better, for worse. He’s not going anywhere, not running away. And in fact, is taking the news better than I was. My panic level went down a couple of notches and I called my mom to tell her the news.

No surprise with Mom’s reaction. She was sympathetic to my tears and fears, and offered to share the news with the rest of the family, but she was also very positive and encouraging. I knew she’d bathe our family and this baby girl in prayer. I was blessed by this. 

And by the time I got home, the tears weren’t as bad, although I’d still have moments of sobbing fits when I started to think about the frightening parts in the rawness of the news. We needed to tell the kids, but weren’t sure of how to tell them. I knew that no matter what, we had to stay positive about it and not add a burden, but express how this baby will be a blessing.

When I finally felt composed, the kids were playing in the kitchen. I walked in and mentioned “You’re going to have a baby sister! And she has something called Down syndrome, she’ll kind of stay little longer, but she will be awesome and full of happiness.” (in my few hours of consuming the news myself, and then attaining a PhD in Googling Down syndrome…this was the best explanation I had for them). 

Dakota Kate (5.5yrs) was ecstatic that she was having a baby sister, and poor Mason (almost 8yrs) was mostly happy although I could tell he’d been expecting a baby brother. Sorry bud, I was wrong. And neither kid had a second thought about the words “Down syndrome.” I knew they didn’t really understand what that meant. Heck, I didn’t either! 

This was just the start of our new adventure.