Let’s Talk About: Devastation

I’ve used the word devastation in my life.  I thought I understood it.

I was wrong.

Husband and I are at home, lying in bed.  Resting with our growing baby and struggling through some real heart-wrenching devastation.  We’re both confused and conflicted.  We’re waiting.  Hoping. I need to release some of the thoughts and worry that are swirling through my head… so…

Here’s what happened…

At our twenty-week ultrasound, the doctors noticed that our sweet baby’s kidneys were different sizes, indicating that one was retaining fluid.  We were informed that this is sometimes indicative of Downs Syndrome, but could also be a simple anomaly that would be treated with antibiotics at birth.  Because the sequential screening results looked good and our girl’s ultrasound was otherwise perfect, they told us not to worry.  They then explained a brand new blood test (called MaterniT21) that could detect our Downs Syndrome risk with 99% accuracy.  Relieved that we would not have to have an amniocentesis (which presents a risk of miscarriage and infection), we agreed to the blood test convinced that we would get reassuring results in two weeks.

I received a phone call on Wednesday with our test results… and was blindsided.  The test was positive for trisomy 13, a chromosomal abnormality that is “not conducive with life,” according to my doctor. Children with trisomy 13 (also called Patau Syndrome) often have numerous birth defects and 100% of them are born with severe mental retardation.  Of the trisomy 13 births that reach full-term, many newborns die within the first 10 days and most within the first year.

Terrified and confused, I called the doctor and asked what we should do now.  She suggested genetic counseling and an amniocentesis to confirm the diagnosis. I begged for the first appointment.  The devastation was excruciating.  We needed more information.

To my relief, the phone rang at 9:00 the next morning as husband and I lay cuddled in bed, his hand on my belly, talking to our sweet girl and sobbing. I was told that the genetic counselor was not scheduled to be in the office for the day, but when they explained the situation to her, she agreed to come in just for us.  Just for our baby girl.  The office staff also agreed to “squeeze us in” for the amnio, even though they were booked for the day.  The receptionist on the phone was so reassuring and understanding.  She informed me that the MaterniT21 test is 99% accurate for trisomy 21 (Downs) and trisomy 18, but only 91.7% accurate for trisomy 13, so she encouraged us to maintain hope.

With a glimmer of hope on the horizon and an office full of compassionate people waiting for us, we left for the doctor’s office. The genetic counselor met with us for an hour, taking our family history and explaining trisomy 13, amniocentesis and the MasterniT21 test to us in detail.  Our high-risk doctor came in next, hugging us both for a long time and telling us that he was as surprised by the test results as we were.  He assured us that everyone in the office was supporting us throughout this process, regardless of the result.  He was so comforting.

After signing forms acknowledging the risk of amniocentesis, we were taken into the ultrasound room.  They conducted an ultrasound first to check for growth.  Our sweet girl is in the 75th percentile for weight at one pound and twelve ounces. Her kidneys are still different sizes, but only by one millimeter. Otherwise, we were told she looks perfect.

After the ultrasound, the doctor came in to perform the amniocentesis.  I was so afraid that baby girl would wriggle into the needle or flail her arms.  I thought reassuring thoughts and begged her to be still for mama. Although the test was uncomfortable, I breathed deeply, closed my eyes and wished hard that our little one would be still. When it was all over, husband told me that our little girl was perfect.  Although she is a champion wiggler, she paused and waited for the amnio to be completed.

After the amniocentesis, we signed some more forms, received recovery instructions and left after a few more hugs from our kind doctor. The amnio results will be run in two batches.  The FISH (preliminary) results will be available on Monday afternoon with full results available in 10 days. Until then… we wait…

While we face this intimidating unknown, here are a few things I know for sure:

  • Most babies with trisomy 13 have a host of medical concerns and birth defects evident on an ultrasound.  Our little girl doesn’t have any indication of cleft palate, rocker feet or other hallmarks of trisomy 13.
  • Fetuses with trisomy 13 generally demonstrate low fetal activity, but our girl is rowdy. She is always wriggling and dancing in my belly.
  • False positive test results, though rare, do happen.
  • We adore our baby completely with a love more profound and complex than we ever knew was possible.  She is the missing piece of our family and the most beautiful and blessed thing that’s ever happened to us.
  • We waited a long time for her.  We dreamed of a baby for years and years, we dreamed of a baby girl.  And finally she came to us… she is our lucky little baby. We are convinced that she is still lucky.  We are convinced that she is well.
  • No matter what the test results reveal, I am still her mama and husband is still her daddy.  She is our sweet little one and the center of our world. She is perfect to us.
We are still filled with so much hope for our precious little peanut.  We believe the amnio will show that she is healthy because that is what we need to believe right now to survive this situation. Our fear of the unknown is crippling.  THIS is what devastation feels like.  You can feel it in your bones, taste it on your tongue, feel it radiate throughout your body like electricity.
Until Monday, we wait.

Image from goldposters.com

7 comments

  1. Michelle Flicker /

    Crying for you as I read this. I will be praying for you and your little girl for sure!!! I have known so many other people with false results for one thing or another and everything turned out fine. Sometimes I feel like there is too much knowledge of the process and we can see too much going on that can scare us and then be just normal. My friend also had this and was scared for no reason. She had a perfectly healthy little boy!! We prayed for you and our home when you bought it and believe we are standing with you and trusting God that everything will be ok!!!!

  2. reyna /

    Your daughter is one smart little lady for choosing you to be her mommy. Know that there are prayer warriors calling out for you tonight and always. Sending hugs and love to you.

  3. Aunt Ginnie /

    holding my breath
    wishing you love
    she’s made it this far
    she’s a tough little dove.

  4. Anonymous /

    Thank you so much for sharing your story and I am thrilled that the results turned out to be a false positive and sorry that you had to endure such a traumatic process. My husband are currently struggling with a similar waiting game. The NT scan results showed a 1:136 risk of T-13/18, due to maternal age and abnormal bloodwork. We had the MaterniT21 test done a few weeks ago and received the results yesterday. We are positive for T-18. Utter devastation followed. We went in for a same day anatomy scan (17 weeks) and amnio. The anatomy scan showed a perfectly normal, healthy baby with none of the hallmark deformities, structural problems, growth restrictions or organ or brain abnormalities commonly associated with T-18. The physicians are baffled and are thinking we may end up as a false positive. Amnio (FISH) results are due back Monday and this will likely be the longest weekend of my life. I spoke with someone from Sequenom today who told me that the false positive rate for the MaterniT21 is .28% for T-18 but agreed that I am more likely than not in that .28%. I am cautiously hopeful but your story gave me a bit more hope. Thank you again for sharing.

    • admin /

      Dearest Mama,

      My heart goes out to you, your husband and your sweet baby. We’re still haunted by the wait for our FISH results, as those days were so riddled with hopelessness and optimism. It is truly excruciating and I wish you all strength and comfort during the long days ahead. I found it helpful to cling to what I knew to be true, that my baby was picture perfect in her ultrasounds, strong in her movements and the absolute love of my life. I sincerely hope that you are part of the .28% of false positives, that your worried mind is eased on Monday morning with beautiful news and that your precious little one is healthy and strong. You’ll be on my mind all weekend…

      xoxo
      -Candice

      • Anonymous /

        Candice,

        Thank you so much for your response. This has been the worst four days of my life. However, this evening we received the news we had been hoping to hear. Consider me among the .28% – we are one of the false positives. Our baby girl is healthy and has no trace of Trisomy 18. We are meeting with the genetic specialist again tomorrow as he believes I may have mosaicism in the placenta (probably not stating this correctly). In any event, we are thrilled but the experience has left me quite anxious and I hope that some of it will subside so that I can actually enjoy the rest of the pregnancy. Thanks again for your quick response. It helped to ease my mind a bit over the last few days.

        • admin /

          I could not be more excited!!!!!!!!!!!!!!!!!!! I was also diagnosed with Confined Placental Mosaicism (CPM) and have a healthy and plump little lady awaiting delivery day. May the remainder of your pregnancy be filled with nothing but health and blissful happiness. I am grinning ear-to-ear for you and your family!

          xo
          -Candice

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  2. Let's Talk About: Confined Placental Mosaicism | Gluteeny - [...] turns out that the positive result on our MaterniT21 test (and subsequent normal results on the amniocentesis) indicate that ...

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