A Marker and Genetic Testing (Our Baby’s Story Continued)

And to continue …

I went in for an appointment with the Fetal Medical Specialists at 17.5 weeks to discuss a plan for preventing another preterm labor.  I wasn’t scheduled to have an ultrasound that looked at the baby, but was delighted when the tech told me to lay down on the table, put that goop on my belly and my little one appeared on the screen!  What a pleasant surprise, I thought!  We saw movement, she praised how well the baby scanned, took a huge amount of photos, measured my cervix length (which was all I thought was happening during this ultrasound) and then left to give the scans to the perinatologist.

He came in and gave me the great news about some things that suggest preterm labor is not imminent but that taking the progesterone shots would still be a really great option for me, etc etc.  Awesome, I thought … finally happy news that will not lead me to leave an appointment in tears.

“I do want to talk to you a bit about something else we saw on the ultrasound, though.  Your baby has what we call a marker for Down Syndrome.”  He showed me the scans of the baby’s heart which revealed a white spot in one of the sections.  He assured me that the white spot in and of itself isn’t harmful or a birth defect, but that it shows up in about 11% of normal pregnancies and in about 33% (or so) of babies with Down Syndrome.  Tried as I might to hear all that he was saying, his voice suddenly resembled Charlie Brown’s teacher’s and nothing was really sinking in other than one of my ‘what-ifs’ is now actually staring me in the face.

Prior to this all of the anxieties I was feeling were fueled by just the general possibilities that float around nearly all pregnancies.  But now, my own baby was showing a marker for one of them.  I wanted so badly not to be phased by this … I wanted to say, “So what, if my baby has Downs?  It doesn’t make a difference …”

I did hear him talk about the DNA testing that would tell us if in fact the baby did have Downs (as well as a few other of the major chromosomal conditions), that our baby had no other markers at this time, but that with my age (35) I would be a good candidate for this testing.   I left the appointment feeling numb, alone, and sick.  Like I said, I wanted so badly for this to not matter … that just the sight of our healthy, growing baby is all that mattered and that whatever else came with the baby’s birth would just be fine, Down Syndrome or not.  I was ashamed to not feel this way.

Once home, I read and re-read the notes I’d taken from Calm My Anxious Heart, grasping at what I knew to be true or God’s grace and provisions.  That evening I talked with my aunt, who is a very experienced Doula, and her thoughts combined with the research I found about this specific marker (echogenic intraventricular focus (EIF) ) worked together to calm my mind.

The following day, though, as I pursued having the test taken I was bounced back and forth between insurance and my 2 OB clinics and was getting nowhere fast with getting it done.  That frustration grew and compounded into a pile of emotions and after crying on the phone with the Health Insurance rep (who was amazing, by the way) I did find out that the test was covered.  I called my regular OB’s office, they said come-on-in, so left straight away to get the testing started.  Only to find out, they couldn’t perform that test because they needed a special kit, which wouldn’t be there until Monday  … and it was Thursday.  Being ME, this just grew the anxiety more… as did my OB’s desire for me to have this particular DNA test rather than the one they actually had there in the clinic.  The one they normally do.  The thoughts in my head flew … ‘What are they are they really testing for that the more complicated one covers that this simpler one doesn’t??’,  ‘What are they not telling me?’ … etc.

So, naturally (though totally irrationally), I got in the car, shared a hysterically crying conversation with Matt telling him I just couldn’t DO this anymore and then minded his advice to simply call the perinatologist back and ask what I should do.

When the sweet nurse got on the phone I told her through a wobbly voice that I hated to be that patient, but that I needed her to talk me through my questions and hysteria.   She assured me that there wasn’t anything they were keeping from me, and that she would love for me to come in the next morning to meet with another perinatologist and could get the blood work done then, if I’d like.

The boys and I headed out for the long drive first thing the next morning.  Bless there little hearts, they did school right there in the waiting room.  They gave each other their spelling tests and read their books and they blessed me so immensely with their patience and cooperation.

The doctor was incredible, too.  She was so very understanding of my need to talk with her and she shared all sorts of facts about this particular marker with me, as well as her opinion that it shouldn’t be included in the ‘list’ at all.  She told me it is the softest of all markers, that she had never seen a case where the baby was diagnosed with Downs who only had this marker, and that 3/4 of her kiddos had it on their ultrasounds but did not have Downs Syndrome.  She said if it wasn’t for my anxiety, she wouldn’t even encourage me to have the test at all because she’d be shocked if it came back ‘positive’.  All of this was incredibly encouraging and I admit, it made me breathe a little easier.  But I had to spill to her what I felt my biggest issue was.

Because friends, honestly?  My biggest issue wasn’t whether the baby had this chromosome abnormality or not … it was how I was dealing with it that had me so emotional.  I don’t know if she is a Christian or not, but I laid out my faith for her right then and there.   I told her that I wanted to find comfort in God, not my circumstances.  I wanted to find comfort regardless of what these tests showed.  I wanted to be at peace while waiting to hear and to feel immense love for this baby no matter what.  And I was just beside myself with grief that I was not feeling any of those things.  I was so sad to KNOW God loves me and will work all things together for my good to glorify Him but that I was not living that knowledge.  It is SO hard to truly KNOW something but not be able to live and breathe according to it.

She listened carefully and thoughtfully and then told me to extend myself some grace.  She reminded me that this is new information and that I needed time to process because a lifetime of developmental and health challenges for her child is not anything any mom would wish for.

After having my blood work done, I did leave the appointment with peace about the testing, but better yet, I left with encouragement about my faith.  It is not called a ‘walk with God’ for nothing… it is a walk, a journey, a progression.  Who did I think I was that I’d just amazingly have contentment in my life after reading one book and exercising it through this one experience?  Who knows how long it took for the Apostle Paul to get to the point of his proclamation of contentment in Philippians 4:10-13 … of not just the knowledge to say it but the faith to deeply feel it.   And even though I felt guilty at first for feeling relief thanks to the words of my doctor, I realized that my visit with her and the facts and truths that she shared could very well be intended as means of comfort provided by God.

Just like this baby inside me, I am growing.  I’m a work in progress and what I now know is God is changing me.  Not in one miraculous fell-swoop, but in a patient, loving, ‘I’ll get you there’ sort of way.  My part is to trust and pray and learn more about God’s character through His Word, and His part is that He’ll bring me the peace I need through Jesus.

So that’s the path I’m on.   And I rejoice in that, alongside rejoicing in our test results showing that Downs Syndrome will not be one of the challenges our baby will face in their life.  ♥  I found an incredible amount of comfort in hearing the genetic counselor say that our results came back great and I also find incredible comfort hearing the Wonderful Counselor say He will never leave or forsake me and that His Grace is sufficient.

Friends, I’m moving on with this pregnancy now trying to keep my eyes on the Lord and my heart and mind on my kiddos and our growing family… with positivity and prayer!  Enough drama, right?  😉  Thank you for reading and for all the prayers you have said for us!


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  • Mom - How can I be “speechless,” when my daughter is so gifted with words? Your blog diary will be a blessing to you in the near and distant future and hopefully to others who are going through the same pregnancy and faith journey. You are blessed to be a blessing.
    XOXOXOXO to GCK? from GrammieReplyCancel

  • Kasey White - Thank you again for sharing your testimony, faith, and struggles. Thank you for being SO real! My middle son’s 20 week ultrasound had the same white spot on his heart and they mentioned Downs, but did not do any further testing at that time. They did do another ultrasound at 32 weeks saying that it usually goes away by then, but it was still there at that point. So, when he was born, we did ask for a heart ultrasound just to be sure that there were no underlying heart issues and it came back clear. I am so glad that you were able to find some peace through the test results and that the rest of the pregnancy will be peaceful in a way that only God can orchestrate! Praying for you!ReplyCancel

  • Ashley - Oh Lacey!!!! I hadn’t check in on your blog in a while and decided I’d stop by today. AHHH! I’m so excited for y’all! We are also expecting (14 weeks tomorrow)! Pregnancy does crazy things to you for sure. My last one (the ‘baby’ will be 2 in a couple weeks…I can’t even) was rough, sick for 9 months, depression, I was angry at God. This pregnancy wasn’t suppose to happen (I swore I’d never had another! two is fine by me, it’s comfortable and “do-able” and I can keep my SUV and we can travel!) BUT GOD. He is so good. I too have been so sick and picking up a camera? HA! But slowly getting back to it. I will be praying for you! As someone who as struggled with anxiety their whole life (and PPD/PPA after the last), it’s a beast. but again GOD! I’m excited to go through pregnancy “with” you 🙂ReplyCancel

  • Stephanie George - Hi Lacey,
    So happy for you that you thought to take this picture during this time. I love that you still have your bandage on from the testing, and that you are surrounded by darkness but are sitting in the light. What meaningful symbolism. You have captured your feelings and the space that you are in beautifully in both words and imagery.ReplyCancel

  • Carol - I think you are too hard on yourself sometimes. You are going through some incredible changes and challenges. Ask Jesus to pray for you!

    My daughter (your age) had the same white spot on the ultrasound of her baby. Your doctor was right, they really shouldn’t even tell parents because it adds SO much stress and worry. Her little girl is now 2 months old and perfect.

    Thanks for including us in your journey. You’ll be in my prayers for sure.ReplyCancel

  • Chesha Oliver - You are so open and faithful. Thank you for sharing your journey eith us. And your picture. Absolutely stunning.ReplyCancel

  • Auntie Dianne - So encouraging Lacey…I love reading the updates and seeing you grow along with this little one! Can’t wait to find out who’s growing in the there! <3ReplyCancel

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