{Big Puffy Heart Day}

Today for our prenatal heart specialist consult, I met with Dr. C, a Pediatric Cardiologist.  I learned at the end of our meeting that he was the one who hired the current pediatric cardiology staff at Children’s Hospital, so I felt that much more confident with his findings. We’re extremely blessed to be local to the hospital and I know from several other moms, the staff at Children’s Hospital is amazing.

So onto Aria’s heart- we have wonderful news:

Aria Joy has a perimembranous ventricular septal defect!!!

What parent gets excited about hearing their child has a heart defect? Well for one: we already knew she has the defect, but to have it confirmed with the heart specialist and to have questions answered, gave me peace and reassurance. But I’m drawing this out too long because we actually do have more wonderful news:

• Dr. C said the hole is a moderate-size at 4.7mm and would either remain the same size at birth OR could begin to close on its own.
• He said he felt confident that the heart defect won’t affect labor, delivery, nor would we see any issues from the defect itself at birth!!!
• And even if the hole doesn’t begin to close on its own, it could potentially not ever affect her health, or worst-case scenario we would see issues manifest later when she’s around 4-6 weeks old.

So while Dr. C can’t rule out surgery completely, he strongly advised that we need to just “wait and see” after birth. We won’t even think about a surgical consult yet since he’s not convinced that there’s a need for surgery. I did ask about a catheter procedure versus open-heart and he advised that due to the location, a cath procedure wouldn’t be an option. 

Thank you God!

We’re still praying hard that the hole will close and that no other issues manifest after birth, but this was blessed news.

{Wisdom}

Ninety years…that’s how many years Maw, Scott’s maternal grandmother, has lived on this earth. And with those nine decades, comes a treasure trove of life lessons, reflection, and golden nuggets of wisdom.

Maw is the youngest of 10 children by her mother and father. Her mom passed away when she was a young adult, and many years later her father decided to remarry. He was long retired by this point, and no doubt expected for life to wind down. 

But God had other plans. 

They had a very unexpected arrival of Baby Melinda, who also very unexpectedly happened to have Down syndrome. Because of Maw’s father’s age and circumstances (retiree and disabled), he was able to be more hands-on with parenting Melinda. Maw said he absolutely adored and treasured Melinda, she was the light of his life. Melinda lived to be in her 60s and passed away in November (?) 2016. Today, Maw is the sole survivor of all her siblings.

When I shared the news of Aria’s diagnosis, Maw explained more about Melinda’s competency, her excellent memory, her warm smile, the joy she brought to their family. Then there was something she made sure to tell me, and I will hold this in my heart forever:

“I'm so happy your family will understand what it's like to love this deeply.”

{Heart Notes}

I needed time to process this before sharing. There are definitely ups and downs on this journey, the tougher parts take longer to digest. A bitter pill to swallow. 

We met with Dr G, our Maternal Fetal Medicine Specialist, again for a Fetal Echocardiogram to get a targeted scan of Aria's heart as he'd suspected a gap in her septum but couldn't confirm. 

Ventricular Septal Defect...Aria has a confirmed heart defect, this one is sometimes called a "hole in the heart". We knew there's about a 50/50 chance that she'll be born with a congenital heart defect, it's common in babies with Down syndrome. 

We're formulating a plan before she arrives and meeting with a Pediatric Cardiologist in a few weeks for a prenatal consult and will discuss surgery; we'll have a medical team ready for her when she debuts-she'll have the best care in place. We're still praying fervently for her health and lifting this up to God. 

We ARE blessed that the VSD is the only medical issue manifested so far! 

I measured larger at my last OB appointment earlier this week though and had my amniotic fluids measured at this MFM appointment. Fluids are higher than they should be. A couple of causes for this can be gestational diabetes (me) or duodenum issues (Aria). Dr G will be watching closely for what is commonly called the "double bubble" which is when there's a GI blockage; this would require surgery on Aria after birth and actually concerns me far more than the heart surgery. While I don't really want gestational diabetes, if this isn't just an amniotic fluid fluctuation, I'd always prefer for it to be an issue with me (especially something that I can manage) rather than another medical complication for my little girl.  

"He heals the brokenhearted and binds up their wounds." Psalm 147:3

{Big Plans}

“There’s a plan greater than what we could ever imagine.” I hear that phrase or wording similar to that all the time. And with risk of contempt, it’s often overused.

Except…

When I look at my own lineage.

I think of the heartache my parents must have gone through after years of infertility: the pain, the frustration, the unfairness of it all.  But you see God had something bigger in store for them. Had they not endured that grief, their depth of gratitude for life, for God’s provision through adoption would have been different. Little did they know during those years of trying and waiting, there were 5 precious children preparing to be born. Those 5 babies and birth mothers with their own individual stories. Birth moms who made the heart wrenching decisions to give their babies a better life than they’d be able to provide, whether due to age, cultural circumstances, financial capability, or even in my case due to conception through rape.

God takes the very worst of things and creates, sculpts something bigger and greater than any of us can imagine. Let that sink in.

So even after years of aching for our third child, devastating miscarriage loss, and now being faced with a high-risk pregnancy with rough survival statistics and a lifelong disability- how could I even doubt for a minute that God has something unimaginable in store for our family. There is something amazing about to happen. There is something amazing happening NOW.

{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?