My Pregnancy TS Roller Coaster by Alyssa Kozura
Hi everyone! I’m a proud mama of an (almost) 1 year old beautiful Ring X TS butterfly! My main point in sharing our story is to help others. All of our stories are so unique and beautiful. No two will be the same, just like our butterflies. But I know there’s another TS mama to be out there scared out of their mind, on a genetic abnormality rollercoaster that our story might just bring comfort to.
So, I guess you’re wondering how we got here? Our journey started with the NIPT test. I was familiar with genetic testing. It was the same as I had with my son, and mostly, I was just excited to confirm the gender of our new bundle. It’s a simple blood test. I raced through the video and literature that counseled me about what the test was going to tell us. I wasn’t worried at all. At 11 weeks, I heard the words “Turner syndrome”, and thought what’s that?
You know those big moments in your life? Defining moments, that you remember what you were doing, who you were with and who you were before a moment? This day was one of those days. I was working, helping my manager with an extra project that was time sensitive. I received a call from a distressed MFM (maternal fetal medicine) doctor while I was driving. “Um, I have some bad news. Are you sitting down?” “I’m driving. What’s the matter?” I fully prepared myself for her to tell me we tested high risk for Down syndrome, or another abnormality I’ve heard of. “I’m sorry to tell you, but your NIPT results came back high risk for something called Turner syndrome.” “Turner syndrome? What’s that?” “I’m not really sure. You’ll need to meet with a genetic counselor to tell you more.” “When can I meet with them? I need to meet with them today.”
I did the worst thing you could do- GOOGLE TURNER SYNDROME. A 99% chance she wasn’t going to make it earth-side? What are the chances we were the 1%? I hysterically cried until my appointment with the counselor. How could the perfect tiny human growing inside of me be ripped away? Needless to say, this call was at 11am - I was in the counselor’s office at 1pm. The counselor explained the basics. My husband attended the meeting (he typically doesn’t due to scheduling issues) and made sure to pay attention to the important details. I was completely blacked out. I was there but couldn’t hear what she was saying.
From this moment on, not only was I a mama - but a fierce advocate for the tiny human growing inside of me. I was forever changed. At 12 weeks I had a repeat NT Scan and it was clear. No signs of TS. My MFM doctor thought it might be a false positive. We scheduled and amniocentesis for 16 weeks. How was I supposed to wait 4 weeks to know her diagnosis? I spent the next 4 weeks with Google and having elective ultrasounds. At 16 weeks I had the amniocentesis, and it was clear. The doctors were still telling me it might the first test might have been a false positive and that there were no signs of TS. Then, the FISH test came back 3 days later and was positive for Mosaic TS. XX and X (?). At 19 weeks got the final amnio results – ring positive. What’s a ring chromosome? It came back as XO, X(r) with xist gene present.
Doctors informed us she would present with various symptoms of classic TS, and that intellectual disabilities were not expected for our baby due to the xist gene being present in the ring. At 22 weeks, I had an anatomy scan and fetal echocardiogram, which showed no signs of TS or genetic abnormalities. The fetal echo looked perfect. I was told by the MFM doctor that she had every chance of making it into the world. My baby measured as in the 60th percentile for size., which was a BIG sigh of relief – the first one I’d had in weeks. I stepped off the roller coaster. No, I didn’t step, I RAN off the roller coaster. I was able to enjoy and celebrate my baby girl. Next came a sprinkle (a small baby shower) with our family and friends. Our miracle baby was going to make it earthside.
Remember those moments I mentioned earlier that change you? The ones you remember forever? I was at my first anatomy scan at a new hospital. We had moved (great decision with a high risk pregnancy and a toddler, I know) and the new hospital insisted on doing their own anatomy scan. I thought “fine, we will get a second look at our sweet girl.” The tech began to scan. She got quiet. “Did you have a fetal MRI?” “On the baby? In my belly?” I asked like a scared child. “Yes. There’s a brain abnormality they missed at the 22-week anatomy scan.” Immediate tears. She explained she couldn’t tell me anymore until the doctor called.” “Can’t the doctor call now?” I said through tears. “No, I need to finish my scan.” I cried and cried through the scan. How could she say something like that? How did the other health system miss something as big as this?
Again, I blacked out. The doctor explained things over the phone, but I couldn’t hear anything he said. I recorded the conversation so I could listen later (my office allows this with permission.) This ventricle, abnormal. That ventricle, abnormal. The vermis- completely missing. What’s a vermis? Google searches of Dandy-Walker and terrifying outcomes danced on my screen. HOW DID THEY MISS THIS? The next step was a fetal MRI, but I couldn’t get in for 2 weeks. Two weeks of another Google nightmare! Not for this mama. No way. I called and begged scheduling to move me up. They weren’t interested in doing so- so I went elsewhere. CHOP (Children’s Hospital of Philadelphia) had me in a day later.
So, at 28 weeks I had a fetal MRI at CHOP. It was painless, but nerve wracking. I just wanted the results to tell me everything was okay. And they did. She was diagnosed with inferior vermis mild hypoplasia - a fun term for a vermis that is 3mm too short. We were told by the chief pediatric neurologist that these findings were “unimpressive” and there’s nothing to look for after birth. Her brain was well formed, and her ventricles looked completely normal. The vermis was well formed and was just a little short.
What a relief! We received this news right before the Christmas holiday. What a miracle. She was also diagnosed as FGR in the 4th percentile at 27 weeks 5 days, which resulted in 10 weeks of 2 NST (nonstress tests) and 2 ultrasounds a week until her birth (scheduled c-section) at 38 weeks.
Now, let’s skip to the good part . . . Meet Jayne Elizabeth! She loves to cuddle her babies, watch Ms. Rachel, bounce in her bouncer, is a good eater and sleeper, and is an all around happy baby. She continues to amaze us every day with her constant smiles and beauty inside and out. She also happens to be a beautiful TS Ring X butterfly. This does not define her. But it means she’s extra special and helps us look for challenges that she may have in life due to her diagnosis. She was truly meant to be here. She’s my sweet baby girl. Handsome Jack’s sister. Dada’s angel baby. A granddaughter to four proud grandparents. A great granddaughter to three over- the-moon great grandparents. She has a life full of all the possibilities you could ever imagine. Her journey has just begun.
