Official Diagnosis "This Changes Nothing"

I've never shared our actual diagnosis story. Probably because, to be honest, of all the diagnosis stories I've read, this one is pretty dull or, at least, not extremely noteworthy.

There were several things I already "knew" about Jack's delivery.

     1. It would be a c-section

     2. It would be scheduled at 37 weeks, so I had a birth date picked out - August 21st. 

I used these two pieces of information to play out the following in my mind... I would get to the hospital on the morning of August 21st, in the OR Greg would be with me, we'd have happy music playing. I had all ready discussed with my doctor that I wanted them to show me my baby before he was assessed, and I wanted to do skin to skin as soon as possible. When Hudson was born, I didn't get to see him for quite a while before they bundled him up and brought him to me, and I didn't want that happening with Jack. My main reason for this was because I wanted to be one of the first ones to be able to see if I saw any physical characteristics of Down syndrome. I didn't want there to be awkward whispered, hushed, pitying tones, I wanted it to be a celebration, as with any other baby! 

This is not remotely how things played out. 

I've already shared my delivery story but long story short, Jack decided to make his grand entrance 8 weeks and 1 day early. My water broke and labor came FAST (I went from a 3 to an 8 or 9 in about 20 minutes). I wasn't supposed to be laboring at all because of the risk of uterine rupture and, well... the anesthesiologist was tied up elsewhere in the hospital and there would be no time to give me a spinal tap. That meant I was put under general anesthesia for the whole thing. Greg was not in the OR with me and it was pretty scary. Okay, it was terrifying. My doctor wasn't there (there was literally no time, he would have been there if he could have been), and I was just lying on the operating table, alone and in immense pain with a million people running around the OR getting everything ready. The anesthesiologist ran in to put me under just before they started operating.

I woke up a few hours later and Greg was able to show me pictures of our baby in the NICU. I thought I'd be able tell right off the bat if he had Down syndrome... what a silly assumption. I asked Greg what the doctors had said about T21 (I'm sick of typing out the full name) and, well, he had "some characteristics, but it was pretty hard to say for sure". My sweet doctor came in the morning and he said the same thing. 

When I was finally able to go to the NICU 12 hours later, our first Neonatologist kept saying something that I loved, he would explain what Jack's current treatment was regarding blood pressure, nutrition, breathing, etc. then say "We are waiting on the genetic test results. Whether he has trisomy 21 or not, this changes nothing." And we basically didn't hear about Down syndrome in the NICU again. And it really did not matter. There were times when I would definitely "see Down syndrome" and other times when I couldn't see it at all. And either way... "this changed nothing."

There was a weird mix-up with lab orders. We were supposed to get our genetic testing results within 72 hours... somehow those tests didn't come back for 2 whole weeks. It was kind of torture. A day or two before we finally got the official diagnostic results, our Neonatologist(different from the first one) even said to us, "I really won't be surprised either way."

Side note.... before being introduced into the world of T21, I didn't even know this scenario was even a possibility. I always assumed it was fully evident as soon as a baby was born, after all, all people with T21 look so much alike, right??? Wrong! This is not true! In fact, some babies don't receive their diagnosis for months, because even though they have the genetic make up of Trisomy 21, their outward physical characteristics don't show it. Some day I'll post more about this because I have some serious thoughts but that post is not today's post.

We didn't share any news about Jack's diagnosis for 2 weeks, because we didn't know anything. We didn't deliberately try to hide his diagnosis, again, there just wasn't news to share. 

So anyway. FINALLY after 2 long weeks of waiting, we received our genetic tests back. Greg and I had just left the NICU to get a quick bite to eat when we got a phone call from our nurse saying the results were finally here and asked if we could come back real quick. So we ran back up to Jack's room and on the way I said to Greg, "do you think he could have mosaic T21?" Surprisingly, the thought had never entered my mind until that moment. I had read about mosaicism in passing, while I was getting my master's degree from google university, but didn't give it much thought because it was so rare! But then lo and behold, our Neonatologist read off the results and... Mosaic T21! And then she talked and talked and talked, because this woman is from the south and she could talk all day if you let her. Someday I'll get to posting about what mosaicism all means, and what it has meant for us. But not today. 

And there you have it. Our not-noteworthy Down syndrome diagnosis story. 

50/50 and allowing space.

"But Mary kept all these things, and pondered them in her heart."
                                                               -Luke 2:19

....I want to put a quick aside here about prenatal screening tests. The kind of screen I did is relatively new and is called a "Non-Invasive Pregnancy Screening (NIPS)" or a "cell-free DNA test(cfDNA)". Essentially during pregnancy, fragments of the baby's DNA ends up floating around in mom's blood, so they can take a vial of blood from mom, use some super cool lab techniques to separate out baby's DNA information and test it for a variety of different chromosomal and genetic abnormalities. They can also test for gender. There is no risk for baby, unlike tests like amniocentesis which carry a risk of miscarriage. Until recently, these tests were only offered to high-risk women (i.e. over 35) but in the last year or so have been more widely offered/covered by insurance so many more women are having this screening test done. NIPS tests are advertised as being over 99% accurate when screening for trisomy 21 (Down syndrome) but they cannot offer an official diagnosis. Prenatally, only amniocentesis or a chorionic villus sampling can offer a diagnosis of a chromosomal or genetic abnormality. So why, if these NIPS and cfDNA screening tests are over 99% accurate is that not a diagnosis? Well because accuracy is different than being specific, and accurate is different than being able to correctly predict a positive or negative result. This is getting into crazy semantics and statistics jargon... if you are truly interested in all of this, go do a google search. But bottom line. These screening tests can still have a relatively high false positive rate... and in a world where there is debate on worthiness of life based on a diagnosis, having the right kind of test is incredibly important. But that is a whole different topic. Anyway....

A couple of weeks after "the phone call" I had a high detail ultrasound showing that so far our baby's heart was developing as it should be, and showed no markers for Down syndrome. This didn't change the fact that we had still received a high risk result on our genetic screening test but it helped solidify our decision to keep our baby's potential diagnosis to ourselves until he was born. As far as Greg and I were concerned, once we were seeing a healthy heart and no other majorly concerning health conditions, so we decided we had no news to share. Our biggest news was that we were bringing a beautiful baby boy into this world and we were overjoyed.

Greg and I felt very strongly that we should not do any further diagnostic testing, such as amniocentesis, even though it could have given us firm answers. And even though our screening test advertises its 99% accuracy, at my age (28 at the time) it actually carried with it a 46% false positive rate, so essentially a 50/50 chance that the test was actually right. Even though I felt spiritual confirmation that our baby would come to us with that extra chromosome, my mind couldn't shake that 46% false positive rate.

Even though, it sometimes seemed like it would have been easier to get that solid prenatal diagnosis, I tried to tell myself that this situation was a lot like waiting to find out the gender of your baby until the delivery room. I would imagine that if that were the scenario, you would spend your time equally split - daydreaming about one gender or the other. Until you knew whether your baby was a boy or girl, both daydreams are real and deserve space. I would imagine that you'd also spend time preparing yourself to be okay with either outcome. Waiting to find out gender roughly paralleled my scenario, so that is what I held on to.

I spent the next 4 months of my pregnancy pretty preoccupied. I tried my best to stay present, but in the quiet moments, it would all come tumbling back in and the anxiety of my changed life would catch up with me. I basically have a master's degree in genetic counseling from google university now, with all of the research I did on genetic testing. I earned this degree during sleepless nights, and owe a lot of thanks to the movie Coco, Netflix, and amazon prime video for keeping my child occupied at times, while I got sucked into scholarly articles and blog posts about the positive predictive value of genetic screening tests.

Overall, I think I'm grateful that we kept our "news" to ourselves. Part of me felt like I couldn't handle worrying about other people worrying about my baby when I really wasn't that worried about my baby... (follow that?).

Another part of me really related to Mary, the mother of Jesus, about whom the New Testament says several times that she, "... kept all these things, and pondered them in her heart."

The obvious reasons for why she kept parts of Jesus' early life close to her heart were that she knew deeply sacred things about his life that others would not know until his ministry began; that he was the Son of God and the Savior of the World. But, I also think she was afforded the opportunity keep these things close to her heart because... well, God had just asked her to live bigger than she knew how to live. I doubt Mary felt prepared, before or after the angel Gabriel came to her, to raise the Son of God. I doubt she felt ready to have her life so fully changed, there were probably even times when she didn't feel "chosen" but felt "picked on". Even if Jesus was perfect in his earthly life, that is still a ton of pressure to place on a mother!

Anyway, I'm not equating my situation to Mary's. Obviously. Except that I relate to wanting to keep really big news close to my heart. Mary had her cousin Elizabeth, whom she could confide in, but she was able to travel to another town, far away from her home and to me that feels like she was able to allow this new part of her life space and room to grow before she was ready to accept it. I wasn't ready to share this news with anyone in my circle, but I was blessed to have an angel mother of child with Down syndrome whom I was able to confide in and who gave me beautiful advice. I gave this big new part of my life space. I gave my sadness over the loss of what I thought my life would look like space. I'm trying to continually allow myself to feel all the feelings that come with this new journey. Because honestly, I feel like if I don't allow those things space, I'd be coping but not living. I'd be trying to shove these big feelings into an all ready full suit case, instead of just deciding to pay for an extra bag; making my life a whole heck-of-a-lot easier. And by allowing space, I'm able to better walk this new path and live this new life that is bigger and grander than I ever could have imagined for myself.

--

One last thing.

One of the best pieces of advice I received during my pregnancy from that angel mother, was to allow myself to grieve the baby I thought was coming to my family, the one without a diagnosis. When I've expressed this to other people in my life I've been encountered with a lot of discomfort, almost like a pushback saying "don't feel sad!" and I think that stems from a misunderstanding about what grief is. It is true, grief overwhelmingly is about death and losing loved ones, which naturally holds a lot of sadness.... but it is also about allowing space for the feelings that come with losing something you were expecting, then allowing yourself to move on; coexisting with both the space of loss and acceptance. When I say I allowed myself to grieve the baby I was expecting to come to my family, I don't mean I was wearing a black veil and crying (although I did shed my fair share of tears) and feeling sad about a baby with Down syndrome, I mean I allowed space for the sadness, the anger, the fear that the baby I had been expecting wasn't coming, and then when I was ready, walked forward, ready to better accept my new path.

Does that make sense? I'm grateful to have learned that there can be room for both sad and happy + a myriad of other emotions, all at the same table.

50/50. Space for all the feelings.

The Beginning

December 2017. "Be of good cheer and do not fear, for I the Lord am with you and will stand by you." The words came peacefully and firmly to my mind. And in that moment I knew I was pregnant. Weeks before a test would tell me. The anxiety I felt about adding another baby to our family washed away with those words.

For 13 weeks my pregnancy was just like many others. I was so sick and so tired. Poor Hudson. I organized a drawer where he could get his own food. I laid in bed, he would bring me an applesauce, I would open it, he would go back to watching his show, and I would suck on a ginger drop, eyes closed, willing myself to hold it all together. I was barely coming out of this fog by the end of my first trimester. At 13 weeks, a new fog rolled in.

March 13, 2018. The day my life changed forever. Or maybe the day my forever just suddenly became clear. I honestly can't decide. My mortal body shocked. My eternal spirit completed. It sounds weird, but it is the only way I can describe it.

The phone call I received that day was simple. Shockingly simple. In my other life, the one before this phone call, I never would have imagined this kind of phone call to happen in such casual way.

My doctor asked me how spring break was going, I was antsy to find out if Hudson would be getting a little brother or sister, no other thoughts were on my horizon. 

And then he said it; "We have your genetic screen back, and there is a 9 in 10 chance that this baby has Down syndrome." "Oh, okay" were the only words I could put together. His next words were mush, sound waves with no pattern. I told my doctor that Greg was in the next room and asked if he would tell him what he had just told me. I put the phone on speaker so we could listen together. Greg's response was the same as mine. He also shared with us that our baby was a boy! My doctor then told us how we would proceed with my pregnancy - an appointment with a maternal fetal medicine doctor for a high level ultrasound in a few weeks to check on our baby's development and to check for any physical markers of Down syndrome. After that, we could decide if we want to do amniocentesis for a firm diagnostic answer. He told us he hoped we could enjoy the rest of our spring break, then hung up.

And that was it; there were no "I'm sorry's" or "this is what your life will look like". Thankfully no negative speculation or misinformation about what a person with down syndrome can or can't do, and no pressure to end my pregnancy. Simple, like he was calling to tell me my dry cleaning was ready; except that I never dry clean my clothes, so it was simple and utterly bewildering.

After the phone call sweet Greg played with Hudson, while I went into my room and cried.

If I'm being totally honest, those next few minutes or hours, I'm not really sure how long, are still too tender to share, dissect, or even think about, even a year later. I'm not sure I'll ever be able to fully go back to those moments where my life was changing forever. And that is okay. All I do know how to say is, I felt all the things, all the feelings, all the emotions. Shock. Anger. Joy. Gratitude. Grief. Pain. Sadness. Fear. Happiness. Excitement. Love. But above all, I felt peace. Beautiful, sacred peace from our Heavenly Home, and an undeniable feeling that this was all a part of God's plan, down to every single detail, and that everything would be okay.