The Diagnosis.. She Has Mosaic Down Syndrome

I was at work when I got the phone call.  The genetic specialist from Women’s Hospital in Vancouver called and told me my daughter, who was not even born yet, has Mosaic Down Syndrome.  As soon as I found out, I cried.  I was hysterical, and told my boss I had to go home.  

I drove all the way home balling my eyes out.  It was a miracle I made it home that day without crashing the car.  When I got home, I cried some more.  My husband and I were living with my parents at the time and I remember them saying a prayer for me and trying to comfort me.  But that was the last thing I wanted, I was angry at God and was in complete shock.  I didn’t understand why this was happening to me.  I didn’t even hear the word mosaic when the genetic specialist told me over the phone, all I heard was down syndrome, and I knew what that meant. In my mind, that meant my child was going to be disabled, and so I cried.  I cried for the loss of having a normal baby.  This was my first baby, my first pregnancy.  All my other friends were getting pregnant and were happy and having normal, healthy babies.  I just kept thinking that this was so unfair.  Why did I have to be the one that had something go wrong.

After awhile, my thought process moved to, this is all my fault.  I did this to my baby.  I didn’t eat healthy enough, I didn’t take the prenatal vitamins everyday like I was supposed to.  I still get emotional even typing this story up because it brings me back to, what was, a really really hard time in my life.  I blamed myself and didn’t want to talk to anybody.  I just wanted to lie in bed and cry.  My parents, husband and best friend tried to comfort me, but nothing helped.

I googled Mosaic Down Syndrome, and there was hardly anything out there on the subject.  But the things that I did find, were pictures and stories of babies and kids who were sick or struggling, which made it even worse for me.  I didn’t want to have a baby who was sick.  My heart broke for the baby that was growing inside of me.

Me and my husband went to the hospital a few days later so that the specialist could explain a little bit more about what MDS was and what our choices were.  One of the options was to terminate the pregnancy.  They said I had two weeks to decide wether or not I was going to keep my baby.  Leaving the hospital that day with my husband, I just felt sad.  We didn’t talk to whole way home because, what do you say at that point?

Even though I grew up going to church and knew that God is against abortions, I still wasn’t sure what to do.  What if my baby was really sick and suffered?  What if she was severely disabled?  What kind of life would that be and how could I be strong enough to raise her? I prayed and prayed, but I came up with nothing.  I just could’t make this decision.  My husband struggled just as much.  He didn’t know what to do and he felt helpless that he couldn’t comfort me.

It wasn’t until two significant things happened that we were able to make a decision.

One: My husband went and talked to his dad one day, trying to get some advice.  His dad said something to him that stood out in his mind and was very profound.  It was exactly what he needed to hear at the time.  He said, “Mark, it is not your choice to make.  It’s God’s.”  After he talked to his dad, he knew exactly what he needed to do.

Mark came home that day and came straight into our bedroom where I was still lying in bed and crying. He said, “Andrea, we are keeping this baby.” But, me being the worrier and thinking about the thousands of things that could go wrong said, “but what if..” but he stopped me and said “no, we are keeping this baby.”  He explained to me what his dad had told him, that it wasn’t our decision to make, and in that moment I knew.  I knew we were going to keep our baby no matter what.

Don’t get me wrong, I was still sad and scared.  But that day, after we had made our decision, I had this peace wash through me and I felt comforted that whatever happened, I wasn’t in charge or responsible for it, God was.   I realized that I didn’t have to make this life changing choice. The burden of making such a choice was not mine, it was God’s.

Two:   A few days later, after we had made the decision to keep our baby, I went for a run.  This is where I tend to do most of my deep thinking and where I talk to God.  I remember having doubts and thinking, “God, I can’t do this.  What if my baby is sick?  I can’t do this.”  That’s when I felt God saying, “Andrea, you can do this.  Everything is going to be OK”.  I felt like he wanted to reassure and confirm to me that we were making the right choice and that he was going to hold my hand and get me through it.

So from there on out, I went through the rest of the pregnancy, praying that she was going to be born happy and healthy.  The specialists and doctors took every precaution along the way.  I had to go in for fetal monitoring once a week, I did extra ultrasounds to ensure the baby was still growing and of course went to all of the normal doctor visits.

Six months later, I gave birth to a beautiful baby girl named Thea.  When the doctors first took a look at her, they thought she had been misdiagnosed because she did not look like she had down syndrome. This gave me hope.  I thought to myself, maybe when God told me everything was going to be ok, he meant that Thea would not actually have MDS.  So the doctors had her re-tested.  I was so excited at the thought of my baby being normal.  But, a few hours later, the doctors came back and told me that the test results confirmed she had MDS.

Laying in that hospital bed, I cried all over again, for the loss of having a normal baby.  Thankfully my parents were there to support me and tell me that it was going to be ok.  They reinforced what I already knew and what God had told me all those weeks ago, Thea was going to be ok.

Over the next few days, Thea was poked and prodded by the doctors at the hospital.  They tested her for all sorts of things that went along with a baby who was diagnosed with MDS.  They checked for possible heart problems, spine problems and many more.  What felt like eternity, but was only a few days, the test results finally came in.  The doctor came into our room and declared Thea healthy and able to go home.

I knew right away that God had answered my prayer. Although she still had MDS, Thea was healthy and she was happy.  We were the proud, happy parents of a brand new baby girl.

The funny thing with Mosaic Down Syndrome is that the doctors can’t tell you how it will effect your child.  The only thing they know is that some of the cells have an extra chromosome, but where they land or how it will show up in your child is unknown.  It could show up in their looks, with Thea it didn’t, or it could show up in terms of having heart problems, again with Thea it didn’t.  With some disabilities they can tell you exactly how and what will be affected, but with MDS it is a mystery.  The doctors told me to treat her like a normal child until something comes up in which I thought she may need help with.  And so, that is exactly what I have done.

For a control freak like me, going into the unknown, was and still is hard.  But, I believe that this is the ultimate test of faith for me.  I believe God has used this situation to help strengthen my faith in him.  It forces me to rely on him, instead of trying to control the situation myself and try to fix it.

I wanted to share my story and create this blog, so that if you, like myself, found out that you are having or have a baby with MDS, you will have a place to come to feel uplifted, and encouraged, and hopefully even a bit excited about your babies future.  I wanted you to be able to google, and find evidence of, a child with MDS that is healthy, happy and thriving.

I pray that this story and blog will give you what you need in that time of confusion and sadness that I once found myself in.  Don’t worry, it get’s better. It really does.

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2 thoughts on “The Diagnosis.. She Has Mosaic Down Syndrome

  1. Thank you for the inspiration, although my grandson does not have this condition, he is laying in the NICU and has had 2 surgeries. I’m encouraged by your words. I truly needed to hear this. Thank you so much again. God bless you and your family!

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