When a Prenatal “Diagnosis” is Wrong – Our Journey With a High Risk Pregnancy

A little background information:

In October of  2006, I gave birth to a beautiful healthy baby boy here at home with the help of Andrew and my midwife.  Six months later he was diagnosed with Down syndrome.  I was only 35 at the time, and the chances of me having a baby born with Down syndrome were only 1 in 350.  

Fast forward to late 2007.  When we joyfully discovered I was pregnant again, Andrew and I decided to get prenatal testing.  We knew that, yes, “it” could happen to us, so if it was determined our baby had special medical needs, we would opt out of going the midwife route and instead have a hospital birth so our baby would be given the best medical care available.  Of course, we were expecting the tests to come back negative for any problems.   

The test we had was called a nuchal translucency screening with  blood work (a simple blood draw from my arm).  The nuchal translucency screening was originally read as normal, and they had given us that result the day of the test.  It was the blood work we were waiting on.   The genetic counselor called on a Monday, and she very cooly and calmly read me the results over the phone.  Based on the blood work, our chances for having a baby with Trisomy 21 (Down syndrome) was knocked down to somewhere around 1 in 750.  Such a relief I thought. 

In her next breath, she told me that something else the blood work could tell us was what our chances were for our baby to have another kind of trisomy, a duplication of the genetic material on another chromosome which would result in a condition called Trisomy 13 or Trisomy 18, depending on the chromosome affected.  Based on the blood work our baby’s chance for Trisomy 13 or 18 was now 1 in 5, whereas a typical result would indicate a 1 in approximately 10,000 chance.  The counselor then went on to explain that those trisomies are considered a lethal diagnosis with the babies either dying during the pregnancy or during delivery.  I remember pressing her with the question, “Do all of them die,” desperate for a way out of the death sentence for my baby, and she hesitantly admitted that some live a few days, but they were very, very sick.

If you do the math, 1 in 5 is not really that bad of  a chance.  That means you have an 80% chance of the baby not having the illness.  Nothing to worry about. 

Yeah, right. 

For me, having given birth to a child a year earlier who had a 1 in 350 chance of having Trisomy 21 (Down’s), meant that without a doubt if my child had a 1 in 5 chance of having a trisomy, she was going to have it.  That “1” was her.  The counselor had no other information to give me, but she told me I might be able to find out some details on the internet about the trisomy.  She offered us an amniocentesis which could offer a clearer diagnosis, which Andrew and I quickly refused because of  the risk to the baby and the fact that because we were pro-life, the results of the amnio would not change anything.  The plan was I would come back to the perinatologist’s office (where the genetic counselor worked and I had gotten the original test) in eight weeks for a detailed ultrasound which could give us more information about the health of the baby.   I so clearly remember after getting off the phone with the counselor, and laying my hands on my stomach and telling the baby inside me to hold on, praying for health, willing my hands to transcend my skin to stroke this child who was probably so very sick. 

A little tangent here – I have always considered myself to be pro-life, but I never knew so clearly, so deeply, so assuredly that life begins at conception until that moment.  It was not cells fighting for life inside my womb, not a possibility of a child, not a pre-child – “it” was a baby, she was a baby.

When Andrew came home from work and I met him in the driveway to tell him the news, I for a minute wavered our committment to life, wavered in the belief of our unity,  and in a desperate need for reassurance asked him  something along the lines, “I mean, we are going to do this, aren’t we?”

Without a milisecond hesitation he looked me in the eye and answered, “Yes.”

In just an hour’s time of searching the web, I found countless testimonials of parents of children who were living with trisomy 13 and 18. 

Here are the sites that told me the things the doctors would not:  

 livingwithtrisomy.org

http://trisomy18journey.org/family.html 

http://www.hopefortrisomy13and18.org/index.php?option=com_content&task=view&id=14&Itemid=1

http://prenatalpartnersforlife.org/index.htm

http://www.trisomy.org/about-us-trisomy/board-of-directors/

Yes, the parents will tell you there were a lot of medical needs; yes, their child was profoundly affected by the condition; but every single one of them were blessed by the life of their child with the trisomy.  The only stories of regret were by the parents who had aborted these children and were living with the consequences.  Some of the children who were carried to term (or delivered prematurely) not only survived the first days of life, they survived the first years of life, and a few of them were even in their teens.  Trisomy 13 and Trisomy 18 are absolutely compatible with life.  A life hard fought for?  Yes.  A life shorter than most?  Yes.  But a life all the same.

After that initial phone call with the genetic counselor, our next visit was to an OB/GYN who we knew was a Christian and we assumed was pro-life.  Although it was out of the ordinary at 15 weeks to do an ultrasound, he agreed to go ahead and we saw our precious baby on ultrasound.  We could all see as he passed the wand over my stomach that the baby’s brain was more developed on one side than on the other.  He said usually he would not even mention that because it often is due to fluid pockets or other temporary conditions on the way to a healthy brain, but because of the trisomy suspicion, he did flag it as a soft marker common in trisomy 13/18 babies.

Next, we went back to the perinatologist for a 20-week anatomy ultrasound, which our baby passed with flying colors.  Her brain was now normal as were her organs and everything else checked.  The doctor said by all indications she was not the 1 in 5 who would be diagnosed with the trisomy, but he couldn’t say for sure.  Then he said something that I will never forget, as it was our first-hand introduction into the battle for the lives of born and unborn babies.  He said, “Now, if you’re thinking of having this baby in the hospital because you are concerned about her having Trisomy 13 or 18, don’t.  If it turns out this baby has that, when she is born you need to wrap her up in a blanket, and, er, well,  just let nature take its course.  You can do that at home.” 

All I could think was, if my baby would live for a few hours or a few days or even a few years but for the need of supplemental oxygen or alternative nutrition, you would deny her even that? 

He then went on to speak of all the things that some parents insist on to prolong life but only really prolong suffering and expenses.  As if he knew better.  As if he would deny the countless trisomy life stories I had read about in the prior weeks.  As if they didn’t exist.  And they wouldn’t exist if those parents hadn’t refused to follow the advice of doctors like him.

Why did we stay with that perinatologist?  Long story, but we did stay.  And we had frequent ultrasounds which were always in line with a healthy child but didn’t erase the fears of the original blood work.  At one point in reviewing the pictures from the ultrasound, I saw our baby’s foot and noticed what looked like a sixth toe.  The doctor said it was probably just a shadow, but I knew it was another marker for trisomy.  I had spent the first six months of Noah’s life praying that he would escape the diagnosis of Trisomy 21, yet for all my prayers the diagnosis came through.  I was emotionally prepared for the same thing to happen to this baby except with the much more serious condition of Trisomy 13 or 18.  Mid-pregnancy I went to Andrew and asked him as the head of our household to lay hands on my stomach and pray for the life of our child.  He did.  For the remainder of the pregnancy, I took nothing for granted.  There was no talk of life with a new baby without the preface “if we get to keep her” (referring to the possibility that if she had the trisomy she might die during the delivery).

July 16th, 2008, early in the morning we headed for the hospital for an induction.  I remember holding Andrew’s hand, walking through the dark parking garage, saying for the last time, “If we get to keep her.”  I had my first bout of gestational diabetes with this pregnancy, and the doctors and Andrew and I didn’t want to leave anything to chance.  Certainly we were not going to have this baby at home.   A normal hospital delivery.  (By the way, doing natural childbirth is WAYYYYY easier at home where you can move around without any IVs than in a hospital.)    The baby was born with a room-full of hospital staff it seemed, ready for anything.  The image of those six toes on ultrasound haunted me still, and the first words I uttered to Andrew after they pronounced a healthy baby girl and I asked if she was okay were, “Count her toes!!!!” 

“Ten toes,” was the reply.

Ten toes.  A healthy baby girl.  No sign of trisomy.

It occurs to mer from time to time that people in our position may have been given the advice to abort and try again simply because of the results of the blood work and they may have, in fact, aborted a healthy child like Bella.  But really that is not the issue.  Whether the baby was healthy or not, an abortion would have ended her life.  Life, any life, is a gift of God, His creation.

What do I think about Bella?  I think she probably had trisomy 13 or 18, and I think she was healed before she was ever born.  I can never prove it, but combining the blood work, the ultrasound that revealed the brain issue and the sixth toe, I think the initial testing was correct.  I think that God answered my prayers about Noah “no,” and he answered our prayers about Bella “yes.”  I am forever grateful.  I know I have cited John 9 before, but I would be remiss to not cite it again:  (quoted from the NASB version of the Bible at www.biblegateway.com) As He passed by, He saw a man blind from birth. 2 And His disciples asked Him, “ Rabbi, who sinned, this man or his parents, that he would be born blind?” 3 Jesus answered, “It was neither that this man sinned, nor his parents; but it was so that the works of God might be displayed in him. 4 We must work the works of Him who sent Me as long as it is day; night is coming when no one can work. 5 While I am in the world, I am the Light of the world.” 6 When He had said this, He spat on the ground, and made clay of the spittle, and applied the clay to his eyes, 7 and said to him, “Go, wash in the pool of Siloam” (which is translated, Sent). So he went away and washed, and came back seeing.

Today Bella is a joy.  Her siblings stand in line to take care of her, whether it’s to do school with her or take her to the bathroom.  Her 17-year-old sister begged us last year to start letting Bella share a room with her.  (This was a teenager who in a house with 7 children just happened to get a room all to herself, and she wanted to give it up to room with Bella.)  Bella is starting to sight read and there is no hint that a doctor ever thought that the best thing for her might be to “wrap her in a blanket and let nature take its course.”  She walks, talks, runs, plays and loves, and she has no trace of any extra chromosomes.  There is no hint that this was the child I so often reminded myself we might not get to keep.

Happy fourth birthday Baby Girl Bella.  You are my miracle.

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6 thoughts on “When a Prenatal “Diagnosis” is Wrong – Our Journey With a High Risk Pregnancy”

  1. Praise God for Bella. What an awesome thing to believe that she was healed in the womb. A tragic thing though that so many when faced with the test results you were faced with end their babies lives. Always choose life! God bless!

    1. Thanks, Jill. It is so easy to look at her now and forget the life she came so close to living, the life we all came so close to living. But it is a pretty amazing thing to have a real live miracle in my home every single day to hug and kiss.

      Blessings,
      Alyson

  2. What a beautiful story. Thank you for opening up to share this. Many of us have imagined how we might respond in a similar situation and it is encouraging to hear how you actually did.

    1. Oh, thanks for reading. :). I know that God wants us to glorify Him with the story of Bellas life, so I appreciate each and every one of you who makes that possible.

      I totally get the wondering how you would respond to this situation. I actually read a blog once that talked about how, sure, it’s one thing to have a baby and find out he has Down syndrome. You already have held that baby and loved that baby, so of course you are going to keep it. This lady went on to say that the REAL heroes are the moms who find out their child has Down syndrome in utero and they go through with the pregnancy anyway because most people would be pro-life perhaps up until that moment and then chicken out. So I started wondering about myself – for about a half a second – before I realized, wait a minute, I did the in utero thing too – with Bella so pthht (me sticking out my tongue and blowing raspberries). Anyway, I do have to acknowledge that my experience with knowing Noah and loving Noah prepped me in a big way for Bella’s “diagnosis,” and I knew that even though that is not what I would have chosen, God had a better plan, just like He did with Noah. I’m not sure how I would have thought had I not had a “warm-up” with Noah first. I stand amazed and so very thankful that the same God who created Noah and Bella in my womb is so meticulous with his planning that He would work every little detail out to bring about His best in our lives and make sure I had all the right experiences to make the right decisions that would affect our precious children’s lives. He is so good.

      Blessings,
      Alyson

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