A Diagnosis Story: Mosaic Down Syndrome

*A precursor to this story is our twin birth story, and before that, of course, our twin pregnancy story.*

I’ve thought about this post for months. I’ve prayed about it and pray that it will encourage, acknowledge truth, and most of all, that if my daughters read this someday, they will know how much I love them, how much Jesus loves them, and that while this is part of them, probably sometimes big and sometimes small, it doesn’t define who they are in the eyes of Christ, and THAT definition is what matters.

***

Psalm 139: 14-16 (ESV)

¹⁴ I praise you, for I am fearfully and wonderfully made.^[a]
Wonderful are your works;
    my soul knows it very well.
¹⁵ My frame was not hidden from you,
when I was being made in secret,
    intricately woven in the depths of the earth.
¹⁶ Your eyes saw my unformed substance;
in your book were written, every one of them,
    the days that were formed for me,
    when as yet there was none of them.

***

During my pregnancy, Baby A always had some health concerns with her heart, overall size, and development. Doctors were not quite sure what to make of it, and, though we had a blood test, we did not do any invasive genetic testing. We would take it all in fully after our twins were born.

Because our girls essentially switched places inside me the week they were born, “Baby A” was born as “Baby B,” if you follow, since she technically came out second. It was confusing, but, though they were mostly referred to by their names in the hospital, their ID bands specified them as Baby A, who was my 5 1/2 pound girl, and Baby B, my 3 1/2 pound girl.

The day of our girls’ birth was amazing. After a crazy, fast birth in the morning, the rest of the day at the hospital was long and exhausting. Once my twins were taken to the NICU, I experienced double than normal blood loss, leading to a rather horrible procedure I won’t describe here, and quite a few hours in a recovery room. Then, around lunch time, we were led to the hospital room where I would stay the next two nights for my own recovery. After that, we headed to the NICU to see our girls.

We went through the handwashing and signing in procedures, me in a wheelchair, and headed to the girls’ private room (this NICU was brand new and had separate rooms for the babies, or double rooms for multiples). We entered the quiet, dim-lit room to look at and touch our little ones through the windows in their warm, cozy isolettes. They were both sleeping soundly, their limbs relaxed outward, as is normal for preemies whose muscles don’t get a chance to get strong enough to pull their limbs inward before they are born. They looked tinier than ever inside the isolettes.

A sweet nurse gave us updates on how each were doing. Our littler twin, Baby B, was still hooked up to a couple things so that they could do a few procedures, so we wouldn’t be able to hold her quite yet. But Baby A was just on room air and free to be held, so we each took turns holding our 5 pound girl, looking at her perfect features, talking to her quietly, and practicing side-lying feeding her (both girls did remarkably well taking the tiny bottles right away!).

Then we talked to our other girl, Baby B, and touched her tiny, tiny hands. At a little over 16 inches long, if you have children you might have a doll the same size. Her features were perfect; her beautifully created tiny, tiny feet, hands, eyes, nose, ears…it was so amazing to see such a tiny baby then, and in the days that followed, eat and sleep and cry just like any baby, but be only 3 and a half pounds!

There was something else that I noticed about my tiny Baby B too. I had noticed it moments after I held her in the delivery room, and I held it in my heart. It was sitting there silently in the back of my mind in the hours following her birth, waiting there, still unreal. I may have said something to Brian when we were alone getting settled into the hospital recovery room, but otherwise God just stilled my heart and prepared for the words to be said aloud that I knew would soon be said.

My perfect, beautiful baby girl had Down syndrome.

The doctor came in. He gave us an update on each of the girls. He was kind, professional in a warm-hearted way, complimenting us on the girls names and saying how beautiful they were. He said it looked like they had some placental blood sharing, causing Baby B to “donate” blood to Baby A, possibly the beginning of Twin-to-Twin Transfusion Syndrome (TTTS) or Twin Anemia-Polycythemia Syndrome (TAPS), he said. That’s why my Baby A was dark red and puffy, with extra blood pumping through her, while Baby B was tiny, pale, and anemic, as she had lost a lot of her blood while inside me. Thankfully, it wasn’t too severe, and in the days to follow would take care of itself.

The doctor hesitated, then looked at us directly. He said, “I want to be honest with you about something. I wouldn’t say it unless I was absolutely certain that there should be testing. Baby B (don’t worry, he used her real name!) has a lot of physical characteristics of Down syndrome, and I’d like to have her tested for it.”

There it was, out there in the open now, spoken into reality.

I nodded. My heart was already ready to hear those words, and I think Brian’s was too. God had, at least for that day, given me a peace about it and the ability to recognize that possibility.

He went on to ask us if we were sure they were mono-di twins. They looked very different, and every once in awhile two placentas for fraternal twins can fuse during pregnancy, causing similar complications to a mono-di pregnancy but resulting in non-identical twins. He said he was confused how they could be identical and one have Down syndrome and the other not. He thought that when we had Baby B tested for Down syndrome, we should also have Baby A tested. It’s not that identical twins are exactly the same, but generally they would both have the same syndrome if it is wired into their DNA. Down syndrome is not caused by environmental factors, like cerebral palsy, for example, so the pieces didn’t seem to fit. Both girls would have their blood drawn, and they would also confirm that they were indeed identical twins.

Our day went on as normally as it can on your first day of having tiny NICU twins.

Fast forward a few days, to the following Tuesday (the girls had been born on a Friday). I had already been discharged from the hospital, and me, Brian, and our 22-month old son had stayed one night, Sunday, in the Ronald McDonald House; our home was about an hour away from the hospital so we were allowed to stay there. Since we had decided Brian would keep working and take his paternity leave when the girls were home from the hospital, he had to go to work that Tuesday. Besides, he was starting a new teaching job, and had only gotten in three days of teaching before the babies were born on Labor Day weekend.

That Monday, after another long day at the hospital with our girls, I stayed alone at the Ronald McDonald House, crying hard when Brian left after supper to take our son home. That night I was pretty miserable, but slept well. More on that later, but one of the last places you want to be when you have just given birth less than four days ago is all alone in a hotel-like room, waking up to pump in the middle of the night for your babies that are both in the hospital. The small nice part that I remember is having one of the longest hot showers I’ve ever taken. Although I cried the whole time, it was a small break from the hospital walls, and time to process a little. My sweet husband had gotten me a present when the girls were born, including a card, chocolate, and a coloring book. So that night, before bed, I sat in the silence, coloring and thinking about how strange and different my life felt now, and wondering what the future might hold.

The next day, I was up early. After getting up early and having some breakfast and coffee, a shuttle service through the Ronald McDonald House came to pick me up to go to the hospital (we only have one vehicle so Brian had that at home). Almost as soon as I arrived, the NICU doctor explained that since, relatively speaking, my girls were doing pretty well compared to most babies in the NICU, they would be moved to the pediatrics unit to a new room. This was due to a huge amount of babies being born at the hospital on Labor Day overnight (which I find kind of hilarious). They needed the NICU space, so within an hour they were unplugging everything so the girls’ isolettes could be moved upstairs before their next feeding.

The arrangement was amazing; I would have my own bed in their room, meaning I wouldn’t need to stay at the Ronald McDonald House anymore, and I was given three meals a day “free” through the hospital, since the babies were getting all of my milk by then. They had a hospital grade pump there, tons of bottles, a TV in the room, and I was given full access to the snack cupboards in the patient kitchen. The best part was that the pediatrics floor had a big play room we were allowed to use, so it would be easy for my mom to bring my son to visit for the day, or for my nieces and nephews to visit. They also had a lot less restrictions on visitors than the NICU, so it was much easier for people to visit. I was grateful for it all. I knew this was much nicer and more home-like than most people’s NICU experience.

The nurse for the day was named Lisa. I will never forget her. I hope sometime soon I can go back and visit her, to properly thank her for what she did for me, but in the meantime I’ll just share with the world about how great she is.

Lisa was assigned to the girls, and me, for the day. I wasn’t a patient anymore, but she made sure that I had my meals, that I was taking time to rest, and that I felt involved with what was happening with the girls. She loved my son and played with him and had only nice things to say about every person that came to visit. She spent time talking to me, and as I talked with her, I found myself letting down and saying out loud a few of the unspoken emotions to her. She listened and was understanding, caring, and empathetic.

After a long day of caring for the girls, I stayed there that night. I barely slept; they had the girls on a schedule an hour apart, and since I was there I felt sort of guilty not helping with every feeding and diaper change. The night nurse turned on a big light near my bed anyway, and I felt a little uncomfortable sleeping when there were people in and out of the room.

Following my night of no sleep, the doctor was in fairly early that next Wednesday morning for his rounds, and Lisa was there again for another 12-hour shift. We had the same NICU doctor that was there the first day the twins were born, and he would just come up to the pediatric floor to do rounds with us. My mom was going to come by later that morning with my son, but I wouldn’t see Brian until Friday.

I was sitting and feeding Baby B, my tiny girl, her bottle. I had just finished feeding Baby A and she was fast asleep. Lisa was in the room, tending to a few things, and to share with the doctor any updates on how the girls’ night had gone and to get details for the plan of the day. The doctor shared a few things about the girls’ progress that I don’t remember anymore, but I will never forget his next words.

He sat down across from me in a chair. “Well,” he said, “I wanted to come to you early because the test results came in.” My stomach flipped. The truth that I already knew was about to be spoken, definitively. “The test came in like I thought. Baby B’s test did come back positive for Down syndrome. It actually came back that she has something called mosaic Down syndrome.”

I nodded. I could conclude what that meant, as they had thought at one point that the girls might have mosaic Turner syndrome. After explaining a bit what that meant, that essentially some of her cells had trisomy 21 and some didn’t, he paused, then said the words that shouldn’t have surprised me, but made my heart hit the floor. “Well, you know that I was questioning if the girls are identical. We know now that they are by the test. Baby B has mosaic Down syndrome, and Baby A has it too.”

I felt like the room stood still while I took it in. I looked at my little Baby A lying peacefully in her cozy isolette. A million things ran through my mind, but I will admit, I was in some sort of denial, in shock. I knew they were identical twins, I knew there had only been one placenta, and I knew that naturally if one baby had DS then they both would, but my mind was stuck and I couldn’t believe it. She has it too. I just kept repeating it over and over in my head, outwardly nodding my head silently and waiting for the doctor to say more. I didn’t cry, I didn’t say anything except, “okay.”

Regardless of my shock in that moment, it truly made perfect sense now. Mosaicism works differently than complete trisomy 21, depending on where the cells with the extra chromosomes are located in their bodies. Most Down syndrome is generally caused when either a sperm or egg has three copies of the 21st chromosome, but mosaic Down syndrome is either caused by an “error” (I don’t see it as an error, but unsure how else to word it) in early cell division, causing some cells to have extra material and some not, or else during something that the geneticist later called a “trisomy rescue.” This would be where the original fertilized egg had complete trisomy 21, but in the very early cell divisions the cells get rid of some, but not all, of the extra chromosomes.

This meant that my girls could indeed be identical, but one have almond eyes, a smaller stature, low muscle tone, hypothyroidism, a smaller mouth (making the tongue appear larger), a large gap between her big toe and the smaller toes, a very large soft spot, and a (minor) heart defect, while the other was long and lean, with average muscle tone, big round eyes, no known heart or thyroid issues, and a “regular” sized soft spot. Add to that the fact that Baby B had intrauterine growth restriction (IUGR), so she was two pounds smaller, and the blood sharing of minor TAPS, so Baby A was dark red and chunkier while Baby B was pale and skinny, and I’m not sure you could have identical twins that looked more different from one another.

Lisa stood near me, listening intently while the doctor explained a few more things about the mosaicism, and Down syndrome in general. He said that the geneticist would come in awhile to give me some information and resources and answer any questions that I had. As a side note, the doctor, and all the staff that talked to me about DS throughout the hospital stay, were never, ever negative or discouraging about Down syndrome. He spoke with hope, and he was very interested in my girls, as they are quite a rare case.

When the doctor left, I was still in disbelief. Lisa came closer and put a hand on my back. “Are you okay?” She was so sincere.

“Yeah,” I said, “I think so. It’s just a lot to take in, I’m not sure how I feel. We knew there might be something like this.” I poured out just a little bit of our pregnancy story, the ups and downs, the fears, and she listened. She assured me that I was going to be an awesome mama for my girls. She told me that I was being so strong, and that I had two beautiful babies. Days before, she was a complete stranger, but now I was giving her a hug and she was listening and was there when I otherwise would have felt completely alone. And it was clear that she loved my precious babies too, and even me, with the way she cared for me that day and in the days to follow.

My mom came soon after my talk with Lisa, and before she arrived, I sent her a text telling her what I had just learned. I wasn’t ready to say it out loud yet but I knew when she arrived I would want her to know right away. So when she walked in, having read the text, she gave me a big hug, told me that she knew it was so hard but that it was going to be okay, and she and I cried.

She was there with me when the geneticist came in later to talk to me about mosaic Down syndrome. He shared about some of the various health risks, but painted a very positive picture full of hope, and even shared a study that showed survey results from parents with kids with Down syndrome and those with kids without Down syndrome. It showed that parents that have a child with Down syndrome were actually found to rank their lives as happier than those without. Interesting; I wish more people knew that. There is a beautiful world to discover with your child with Down syndrome, the moment you are ready to receive it.

Lisa talked to me later that day when I was completely exhausted. My world had truly flipped upside down multiple times in the last few days, I had barely slept, and of course I was still recovering from giving birth to twins, not even a week post partum. She gave me the push I needed to go home that night. My guilt was crushing, because I knew they had a bed for me at the hospital, and my tiny babies were there, and I felt worried about leaving the girls with nurses while I went home to rest, and maybe everybody judging me for leaving. But that afternoon I kept crying, and Lisa told me I looked totally exhausted. I said I did feel I should tell my husband about the diagnosis in person, and she said the words I needed to hear, which was that I shouldn’t feel guilty because my babies would receive the best care I could ask for, I could get a good night’s sleep to help me better handle the days to come, and I could be with my husband while we let the news sink in.

So I did. I went home that night, and while our toddler was in bed, I snuggled next to Brian and told him the news. It was the first time I had said it out loud. “Brian,” I said, “the doctor gave me the test results today. Baby B (again, don’t worry, I used her real name!) has the mosaic form of Down syndrome.” My voice faltered and I felt the tears well up inside of me as I said the words that had been on replay all day. “And he said that Baby A has it too. Both of them Brian. They both have it.” After that I cried, uncontrollably, for a long, long time. He held me, and comforted me, and he did not cry. He smiled, wiped my tears, and told me with confidence, “Lauren, everything is going to be okay! God wants you to be their mommy, and you are going to be awesome at it! And we will do whatever we need to do to give our girls the best life possible. They are going to be okay. We love our girls no matter what!”

I cried some more, but I could also smile. I knew he was right. There were fears, doubts, and unknowns, but as we prayed for our sweet girls, I could feel hope already welling inside me. It was a hard day, but mainly because there was so much I didn’t know. I knew so much less than I realized about Down syndrome, and mosaic Down syndrome, and the world of doctors and specialists and therapy. I didn’t know how much joy my babies were going to bring me in the following months just by being exactly who they are, as they quickly moved out of the NICU and straight into my heart to stay. So girls, if you are reading this someday, know that I never want you to be anyone but exactly who you are, and all that crying was just a lot of fear of the unknown, rather than crying over what actually was. (Also, it’s very hard to control your emotions after you have a baby, and I cried just as much in the days following your brother’s birth too).

The days that followed were hard, but not because of Down syndrome. They were hard because it’s hard to have newborn twins in the NICU while your two year old is at home and your husband is working. It’s hard to have one twin go home while the other stays in the hospital. It’s hard to have newborn twins, period, because you don’t get to sleep for a couple months and both you and your husband are equally sleep deprived.

But the days that followed were also good, and sometimes even because of Down syndrome. God shifted my focus. Love poured in from my family, friends, the doctors, nurses, and other staff at the hospital. The girls were famous at the hospital for the 17 days that we were there, and staff members, including Lisa, started to do their own research about mosaic Down syndrome. It’s so rare, many of the hospital staff had never even heard of it. One day, Lisa sat down on the bed next to me to tell me she had researched all about mDS once she heard the diagnosis, and was so fascinated to learn about it. She made me feel so excited for the two amazing lives that were just beginning to unfold in front of me. They were rare and unique, and that was special and amazing.

The other night I had a terrible nightmare where I was pregnant with a baby boy that had Down syndrome, and two people at the doctor’s office were trying to convince me to give up my baby or abort him. I was yelling at them that I was meant to have him and that Down syndrome didn’t need to be a negative thing, that he was special and unique and mine and that I was going to do everything I could to take care of him and that I wanted my baby so bad. When I woke up I was completely tense all over and I’m pretty sure I was crying in my sleep. As I fed my sweet six month old babies early the following morning, I realized that the dream had been a nightmare, because not only do I never want to have somebody take my babies from me, but I don’t want my babies to be any different than who they are. They are just who they were created to be, and I love them with all my heart, extra chromosomes and all.

Okay, how could we not look so proud? Us holding our sweeties the first couple days in the NICU.