Our Diagnosis Story

I took an at home pregnancy test on Halloween in 2016. Positive! I made an appointment at my gynecologist’s office for the following day. Also, positive! Ben and I enjoyed our little secret for quite a while. We were fortunate to be able to start a family with very little stress. We decided to try, and voila, a baby was on the way! I know this is not always the case, and my heart goes out to the parents who go through infertility, months of hormone treatments, and other scenarios.

For me, the realization of carrying a human being around with me day in and day out was surreal. We announced our pregnancy to our family and friends right around Christmas. We placed copies of one of our early ultrasound photos in picture frames and let our mothers open the gifts like they were any other gift. My mom instantly started crying. Ben’s mom made a loud squeal and jumped up and down. Joy all around – Ben and Katie are having a baby!

Part I – Nuchal Fold

My husband and I went to our 20-week ultrasound full of excitement to see the person growing inside me. The person who has a bit of him and a bit of me.

We sat next to one another in the waiting room and made small talk. “Katelyn,” the clipboard-carrying nurse said as she opened the office door. Ben and I stood and followed.

Weight check first. Ben kindly looked the other way. I took off my coat and boots before stepping on the scale. “This way please,” the nurse said as she gestured. We walked to a private room full of monitors and machines, a few uncomfortable looking chairs, and the paper-sheet-covered OBGYN electric lounger.

Blood pressure check. “Any concerns?” asked the nurse.

“Nope,” I said with a smile toward Ben. I was one of the lucky ones. No morning sickness. An occasional bout of fatigue, sure, but my pregnancy was nothing like those I’d heard of from friends or watched characters experience in the movies. There was a little something growing inside me, but it was by no means a parasite, more like a companion. An “it” because gender reveal was to be a surprise on birth day.

“Lift your shirt please,” said the nurse as she warmed a bottle of a clear jelly substance. She tucked a small towel above my bump to protect my shirt, and another below my bump to protect my pants from excess jelly goop. At 20 weeks, my bump wasn’t much, but I was showing a bit. The ultrasound wand was cold, so thank goodness for the thoughtful jelly warm up!

Ben and I were glued to the screen. Blobs of black and white, some gray, a little movement, a little pressure. “Gender?” the nurse asked.

“No thanks!” Ben and I said in unison.

“I’ll just turn the monitor for a bit then,” replied the nurse.

When the womb photoshoot was over, the nurse handed me a few pieces of scratchy paper towel to wipe off any extra jelly from my belly. “Here are a few photos for you.” I pulled my coat back on and stepped into my boots, and Ben and I left, hand in hand, our faces frozen in wide grins.

A few days later, my doctor called. “Katelyn, we’d like to have you in for another ultrasound.”

“Oh,” I said. “Is something wrong?” He explained that he wanted to have another look, and the images from my first ultrasound weren’t as clear as he likes in order to check on things. “I’ll get that scheduled right away,” I said.

The drive to the doctor’s office wasn’t as exciting the second time around. Ben came along with me, as he did to most appointments since we found out we were pregnant. We were looking forward to seeing Baby again, but we also felt unsure about what my doctor might have seen or be looking for. The whole process was the same for the most part. Except, it was a tad quieter.

At one point, the nurse’s face changed a bit as the wand moved over my belly. She was looking intently at the screen and click, click, clicking away. We could see from the screen that she was spending a lot of time measuring near the neck area. She kept going over it and over it from different angles and with different measurements – a line, a circle, an oval, left to right, top to bottom, diagonal.

This part gets a bit fuzzy for me, but this is my recollection. The nurse didn’t say anything to us about what she was measuring or why. Looking back, I assume it’s because she’s not legally authorized to give us any information or discuss what she discovers; that’s the doctor’s job.

Not long after, my doctor called. “Katelyn, I’d like to schedule an appointment for you at maternal fetal medicine just to get some clarity on a measurement we found in your ultrasound.”

Wait, what? Maternal who? Instantly, the nerves hit, and I couldn’t quite catch my breath. “Is something wrong with the baby?”

“Nothing wrong, no, we just found some discrepancies in the nuchal fold measurement that I’d like to have a specialist look at. There’s no need to worry, your baby looks healthy.” I didn’t think to ask him what a nuchal fold was.

“Okay, sure. We can set up an appointment with them. Thank you.” What is a nuchal fold? I called and told Ben about what the doctor said, and like anyone who doesn’t know what something is these days, we Googled it. Here’s what we read:

The nuchal fold is a normal fold of skin seen at the back of the fetal neck during the second trimester of pregnancy. Increased thickness of the nuchal fold is a soft marker associated with multiple fetal anomalies and is measured on a routine second trimester ultrasound.

Multiple fetal anomalies? More reading …

Most babies with an increased nuchal fold have no other problems. It can increase the risk of chromosome problems such as Down syndrome.

BAM! Ultrasound. Increased nuchal fold. Down syndrome. Does our baby have Down syndrome? What exactly is Down syndrome?

Shock is the only word to describe the feeling. A little blankness of the brain rhythms sprinkled with disbelief and uncertainty. But there was a chance the measurement meant nothing. The reason my doctor called was to send us to a specialist to check to see if the measurement was a marker for something more. He said it himself, “Your baby looks healthy.”

Part II – MFM (Maternal Fetal Medicine)

The drive from Holland to Grand Rapids is only about 40 minutes, but the time in the car on the morning of our first MFM appointment felt like watching fresh paint dry. With a little music playing softly, neither Ben nor I spoke much. Each of us just running through scenarios and what ifs in our own heads.

We parked in a large parking garage. Walked to the outdoor elevator system. Took the elevator to the main level. Crossed the hall. Took another elevator up to the proper floor. Glass doors. Sterile smell. Windowed cubicles. Quick bathroom break. Some paperwork and copies of my I.D. and insurance card. Sit and wait.

“Katelyn,” a male nurse called after about 15 minutes. Ben and I followed. “This way please,” the nurse said as he stepped aside and let us lead him into a hallway. “Second door on the left.”

We ventured in and removed our coats. Ben sat next to the special chair with the paper sheet, and I hoisted myself up. Machine. Jelly. Wand. This time, though, we got to see some 3-D images of the person growing inside me. We were viewing pinks and tans against a black background, rather than grainy white and black images. Absolutely incredible! And, quiet.

The stress of it all rushed in. The unknown. The eagerness to know. The fear of what could be. I lay there crying silently. Ben smiled and held my hand. The ultrasound tech looked a bit surprised at my tears but didn’t say anything. Instead, he handed me a few tissues. The tears continued for most of the appointment.

“I think we have what we need,” said the nurse. “If you’ll come with me, we’ll just have you wait in a different room while the doctor reviews the images.” A shuffling of coats and shoes. Open door. Hallway. Open door. Sit. Door closed.

“I’m sorry,” I said to Ben.

“Don’t be, it’s OK,” he said handing me another tissue. Where Ben was solid as a rock, I was emotional soup.

In time, the tears stopped and a plump male doctor with a beard knocked and entered our waiting room. After a short introduction, “You do have a few options,” he said.

Again, this isn’t word for word, but it’s what I remember given my emotional state. Where my primary gynecologist was supportive — regardless of the nuchal fold, he told me my baby was healthy — the MFM doctor took a blunt and somewhat hurtful approach.

“Babies with Down syndrome can have a host of issues and problems…You have time right now if you’d like to terminate. We could also do a few other tests to confirm the diagnosis of your baby. A blood test panorama or an amniocentesis. An amniocentesis is an invasive procedure and could lead to a miscarriage… A child with Down syndrome lacks in a lot of ways and they often don’t fit into regular society. Your child may never talk or do things on their own,” he said in a sort of droning monologue that seemed to last forever.

Eyes wide. My hands clasped together. More silent tears. The doctor wheeled his chair loudly to the cabinet on the other side of the room and rolled back to hand me a whole box of tissues. He looked from me to Ben and back again.

“I don’t want to do an amnio,” I said. Ben nodded. “Maybe we’ll do the blood panorama thing. How accurate is that?”

The doctor explained the panorama and how it works. I honestly don’t remember the description at all. Terms like karyotype and chromosomes were used.

Ben and I were asked to make our way to a lab, a place conveniently located in a different part of the same building. Check-in. Sit and wait. A while later a technician called my name, “Katelyn,” and I followed the nurse to a small private room. Gloves. Needle. Poke. The flow of blood through the needle into the plastic tubing, filling the blood vile crimson. All there was left to do was wait.

I got home from MFM that day emotionally drained. Fear crept into every part of my being. What if our baby has Down syndrome? Why us? Why me?

Part III – Results, Announcement, and Perceived Acceptance   

Our blood panorama results came back with a 99.98% chance of Down syndrome. And with the results, a bill for just shy of $8K! In the confusion and uncertainty of the moment, we never once asked about the cost for a procedure or test. With a little back and forth with insurance and the panorama lab, we didn’t end up paying nearly the original bill, but with those results, topped by the cost, I just about lost it.

99.98% is pretty much a slam dunk, on target, homerun blood test result. Our baby has Down syndrome. Ben and I kept the news to ourselves for a few days. We let the term wash over us and eventually settle into our bones.

I did a lot of Googling. What is Down syndrome? What causes Down syndrome? What’s the life expectancy of Down syndrome? Will this baby live with us forever? Will this baby be able to learn to talk, to dance, to play games, to read books, to live on their own? So many questions. So many worries. So much fear.

In my searches, I found resources and support. I bought the book The Parent’s Guide to Down Syndrome. I read. I cried. I read more. I cried more.

We weren’t sure how to tell family and friends about what we knew to be true. I took the easy way out. I sent my siblings a group text. I received “I love you” and “you can do this” in response. My sister called me and let me know she was there for me if I needed anything. My parents were supportive and loving. Ben’s parents as well.

Most friends and other relatives were supportive, but also a little unsure how to react to our news. A few friends and family gave us the “I’m sorry” and “special people get special kids” comments when we told them the news. We also a heard “we’re praying for the .02 percent,” meaning praying for us that our child wouldn’t be born with Down syndrome. I know everyone meant well, but even in those early days, each negative comment, sad glance, or arch of the eyebrows in surprise felt amplified to me. With each negative response, I questioned myself and our unborn baby. Ben was quiet about the diagnosis. I could tell it was on his mind, but he was keeping his fears from me.

At that time, we seemed to always think about Baby in comparison to “typical” babies.. The biggest fears about our baby were always based on what our life experience lacked; Ben and I both had very little familiarity with people of differing abilities. How would we be able to take care of someone “different”? Can we do this?

At some point during all the reading and research, I began to settle into my new reality. My baby would be born with Down syndrome; I couldn’t change that. (At the time, I probably would have if I could, but now, I’m so grateful that changing wasn’t an option.) I could do my best to be prepared. I began to feel pride in knowing something about my baby before we ever met face to face. I learned about the different types of Down syndrome, the accepted vernacular to talk about Down syndrome, and just how much people who have Down syndrome are doing in the world today.

We got to see Baby’s face at MFM four more times prior to birth; never meeting with the same male doctor, and I was just fine with that. I got to hear Baby’s heartbeat often as I started weekly NSTs. My mom accompanied me to a fluid check ultrasound at my regular doctor’s office for one appointment Ben couldn’t make. Overall, the checks on Baby’s heart and other vital organs came back negative. Down syndrome was the diagnosis, but no other complications were present. Because of this, I had the choice to continue with our original birth plan of a Holland Hospital delivery, rather than a delivery near the specialists in downtown Grand Rapids. A 10-minute drive to the hospital versus 45 minutes, I was happy about that!

Part IV – Hello, Jameson

I woke June 25, 2017 feeling normal. Big belly, big boobs, stretch pants. Ben and I leashed up our Cocker Spaniel, Nola, and headed out for a morning walk. I did a lot of walking once the snow and ice melted. I love to be outside and walking helped me clear my head during those final pregnant months.

About a half mile from the house, I started to feel some cramping. “Slow down a bit,” I said to Ben. We walked on and the cramping came and went. Home from the walk, we decided to take a quick trip to the grocery store. In the cereal aisle, the cramping hit again. It felt a little more painful, and the thought crossed my mind – Is this labor? I hadn’t had any “false alarms” like you see in the movies. I was scheduled to be induced the following Thursday. And as luck would have it, I had to be to the hospital at 1pm later in the day for an ultrasound to check my fluid levels.

“Maybe we should pack a bag, just in case,” I said to Ben when we got home from the grocery store. I threw in a nightgown, change of clothes, and my toiletries. Ben did the same.

Ring, ring, ring. “Your sister and I are in town. Do you want to grab lunch before your appointment?” my mom asked me over the phone.

Ben and I met up with my mom and sister at The Curragh, an Irish Pub in downtown Holland just a few minutes from the Hospital. When we arrived, they had already ordered my favorite, cheese sticks! I sat and then began rubbing at my belly with a slightly pained expression.

“Are you okay, Katie?” my mom asked.

“Yeah, just some cramping a bit.”

Her eyebrows shot up. “You could be in labor!” We chatted and ate food for a while longer, but I wasn’t feeling very hungry. Just before we left to go to my scheduled ultrasound appointment, I asked my sister if she wanted to join.

She hasn’t had kids of her own yet, so this was an opportunity for her to see a baby in the womb. “I’d love to!” she said.

All four of us – Ben, Mom, Sister, and I (five if you count Baby!) – checked in at the hospital for the ultrasound. The room was large, so they allowed everyone in. The ultrasound tech was an older woman with short hair and glasses. My sister sat close to me, so she had the best view of the screen. Ben and my mom stood against a back wall with a view of the screen as well.

“It’s unusual to need an ultrasound this late in your pregnancy,” the tech said to me.

“It’s just a checkup – my fluid levels were lower than they wanted to see at my last appointment. I’m scheduled to be induced Thursday. Baby has Down syndrome, so we’ve had a lot of different appointments and such.”

“I see,” she said. “Well, good for you.” This response bugged me then and it still bugs me a little now. Good for me for what? For going through with having a baby with Down syndrome?

To triage I was sent while the ultrasound results were reviewed. They set me up on an NST, wrapping my big belly with a tight band to monitor baby’s heartbeat. Mom and Sister stepped out; to where I’m not sure. Ben stayed with me in the room and we flipped through a few channels on the TV.

About 30 minutes later, a Doctor came in and told me my fluid levels were extremely low. And, I was in pre-labor. Alas, those cramps were labor pains! The Doctor wanted to admit me and get me on Pitocin; a hormone infused in the IV to strengthen labor contractions during birth.

“Have you eaten?” a nurse asked.

“Not much,” I replied. She brought me some cheese and crackers and a turkey sandwich. “Once we get you in your room, you won’t be able to eat anything!”

Mom and Sister came back and Ben told them we were moving to a room. “I had a feeling!” Mom said with a smile.

New room. Gown. Hospital bed. IV. Medicine ball. Friendly nurse. Pitocin. Light cramping. Heavier cramping. Pain! For a blink I thought I’d go with a natural birth… More pain. Epidural.

Ben called his parents somewhere in there, and they arrived at the hospital in the evening. My mom and sister were in and out. Ben and I watched TV. At some point my mom put my hair in a ponytail; I couldn’t do it with the wires and IVs all over my arms.

About 10:00pm the pressure down there started to feel stronger and stronger. My mom and sister were in the room and I began to cry. Ben walked over to me, held my hand, and pushed hair out of my face. My mom said, “I love you,” and she and my sister left the room. Later, mom would say she could tell it was almost time for baby to arrive because of my sudden emotional state.

We waited a little while longer and I finally asked if I could start pushing around 10:40pm. Breathe. Push – 1, 2, 3, 4, 5, 6, 7, 8, 9, 10. Breathe. Push. “You can do this,” the female doctor said. “You’ve got this, push push push.” In just a few minutes, I could feel Baby’s head crowning, and it stayed there in between pushes.

“I don’t like it! I don’t like it!” I remember saying to Ben. One more big push, and out slid Baby. Born at 10:50pm. An unlocking of our hands, Ben stretched away. I couldn’t see him. Then all the sudden he was back, his nose nearly touching mine. “It’s a boy! It’s our Jameson!” he smiled.

The doctor placed Jameson on my chest. He squirmed and wiggled, but there wasn’t much crying. He made sounds, but they were relaxed, almost like whispers. I took in his soft skin. His smell. His wispy clump of dark hair. His small eyes, like little almonds. His puffy cheeks. I counted each set of fingers and each set of toes. I cried. Ben cried. “Jameson, you’re here!” I breathed.

A tiny part of me wondered if Jameson, after all we went through, all the tests and worry and fear, if he would be born typical. But I could tell. Jameson has Down syndrome. My heart broke a bit at the time, banking on all of the signs and tests getting it wrong. And yet, there I was holding this living being, created with love, who needs my love now more than ever.

About 15 minutes into skin-to-skin, Jameson was whisked away to the bassinet near my bed for a few checks. They were looking at his coloring, slight jaundice perhaps, and checking his heart and his lungs. Ben stepped out of the room at this time to tell our waiting family the big news. A baby boy – a healthy baby boy.

After a few hours as a new family unit, we opened the door for family to meet Jameson. Smiles. Tears. Hugs. “Congratulations!” The excitement died down, and Ben and I were left alone with our new baby once again. We kept Jameson in the room with us throughout our stay at the hospital. Ben changed several brand-new baby diapers – that meconium, black tar like stuff. We spent minute after minute just looking at him, savoring him like a piece of decadent chocolate cake you just can’t get enough of.

The morning following Jameson’s welcome into the world, a hospital liaison came in with a book for us. It was about Down syndrome. He asked if we knew about Jameson’s diagnosis, and we said we did, that we knew early on in my pregnancy. He mentioned the Down Syndrome Association of West Michigan and gave us their information. “If you want to talk to other parents at all,” he said as I left the room.

Ben and I each had moments of total and complete uncertainty, anger, sadness, and fear while staying in that hospital room. There were tears of joy and happiness, but also tears of sorrow and fear, uncertainty and guilt, tears for the loss of what we thought our lives would be, and tears as we wondered what our lives would be like from here on out. What does Down syndrome mean for Jameson? How will he be? Who will he be? How will we do this?

On the third day, we packed up our belongings and buckled a 7-pound 1-ounce baby into a car seat that looked way too big for him.

We made it. We made it through all the what ifs since our 20-week ultrasound appointment. Jameson was here. A living, breathing, sleeping, eating human being. Down syndrome or not, he just needed us to love and care for him.

Three months later, I wrote the first draft of the book I Am Me. After a year of trying to find a traditional publisher, I was connected through a writer friend to a third-party publisher. I started a GoFundMe to help cover costs. I hired an illustrator to turn my words into visual inspiration. And, I made the commitment to donate $3.21, for Trisomy 21 Down syndrome, of every book sold.

Jameson spent a few days at the children’s hospital for an emergency surgery to fix pyloric stenosis when he was 8 weeks. Other than that, he is every bit the “typical” baby you think of. And that’s just it, Down syndrome or not, he’s who he is meant to be. And we were meant to be his parents.

To answer the big question that plagued us throughout my pregnancy, how will we do this? We just do. We take every day as it comes. We love fully. We allow Jameson to be Jameson.

“We are all different, our shapes and our sizes, our color of skin and care. But still we’re the same, and we need one another to love and listen and care. You are you and I am me, just exactly how life is meant to be,” as quoted from my book I Am Me.

*Special thanks to Betsy Peterson for helping me refine and edit this piece.

2 Comments on “Our Diagnosis Story

  1. Katie, it is amazing how you put your feelings into words. I am so proud of you💗

  2. Pingback: A Mother’s Day Reflection – KatelynShae

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