“Mosaic 67%. Adored 100%.”
Colton Simpson, Mosaic Trisomy 13, 4/30/2013 Spotsylvania, VA
Our journey began when my OB referred me to a perinatologist due to being 36. I didn’t think much of it because this was my fourth child and I knew that typically women over 35 go because of increased risk of ds. So mid January my husband and I went for our first ultrasound together I was 24 weeks at this point. Keep in mind I had one at 20 weeks my Dr wanted to see if we could tell the baby’s sex yet. He looked fine and they said they thought he was a boy but he was small so it was hard to be sure. So anyway the sonogram at the perinatologist confirmed a boy! My husband and I were so thrilled because our other three were girls. The sonographer was pleasant after that but not as conversational. She told us a Dr would be in to talk to us.
My heart sank – something’s wrong I could feel the tears welling up and flowing down my face. The Dr came in and stated his kidneys were enlarged and it was q soft marker for ds. So I had the harmony test done that day. I got a call a few days later from their genetic counselor who asked me if I could come in now. I was terrified I cried the whole way. Looking back sure would have been nice if he had asked me to have my husband present. Real big hard pill to swallow on your own. So he told me bloodwork was positive for t13. I had no clue. Never heard of it. Then sat there blankly in a panic stare I’m sure as I heard the whole spiel of incompatible yata yata…meanwhile having one of those this can’t be happening moments.
Couple days later had amnio. Never wanted one before this. And yes it hurts. The genetic counselor called me a couple of days later and told me over the phone the news full trisomy 13. Guess he figured it wasn’t worth the gas or time to do it face to face or maybe he couldn’t.
So then we went weekly along the way. We monitored his kidneys, found 4 holes in his heart, though he had extra fingers and toes, and had a lot of hair, was smaller but looked like any other baby. Turns out he did have an extra pinky but they didn’t have bone so were removed in the nicu. He was born 15 days early when I went into labor after my water broke at the typical 4 am for me. He was in the nicu for a week. Had jaundice which all my kids did. He was on oxygen for a couple of days through his nose while there and then a feeding tube up until the day he came home. He kept falling asleep while eating, that’s why they put the tube in his nose. My husband called me on day 7 while I was on my way to one of my many treks to the hospital. Told me to turn around and and get the car seat. I started crying hysterically I felt like I just won the lottery. He finished his bottles all in a 24 hr period, passed his carseat stress test, we got infant and toddler CPR and choking certified and we took our little man home at about 11pm no monitors no tubes nothing. It was the most amazing thing. So hard; no pregnancy, no baby, the multiple trips to the hospital daily takes a toll on a person. All his tests and everything came back normal except still had one kidney a little enlarged, 3 of the 4 holes, and oh yea almost forgot trisomy 13 confirmed. Mosaic 67%. Adored 100%.