It has taken me two years to share this story because putting it into words brings me back to the emotions I felt throughout my pregnancy. While we were dealing with a scary diagnosis, I searched the internet for days, weeks, and months, hoping I’d find just one person who had been through a similar experience. I needed to hear that it was going to be ok. I reached out to a woman from Canada who had posted about her situation 11 years ago. I never heard back. I posted on baby blogs and websites seeking advice. I never received a response. I read research article after research article, decoding the medical terminology, and taking notes. I wanted to know everything there was to know about this condition to make educated decisions that weren’t solely based on emotion. So even if this reaches just one person going through a like-experience, it is 100% worth it because it will be ok.
From the moment I was born, I wanted to be a mom. If you asked me what I wanted to be at 5 years old, I would have told you a teacher and a mom. Both have come true. But like all women, we have fears. What if I can’t get pregnant? What if it takes years? What if I miscarry? Baz Luhrmann put it best when he said, “Don’t worry about the future. Or worry, but know that worrying is as effective as trying to solve an algebra equation by chewing bubblegum. The real troubles in your life are apt to be things that never crossed your worried mind. The kind that blindsides you on some idle Tuesday.”
There I was, on an idle Tuesday, blindsided by things that never crossed my worried mind.
Rewind about 10 weeks. I woke up the morning after my best friend’s wedding, and I knew something wasn’t right. I left the hotel and went home to take a pregnancy test. Sure enough, positive! My reaction was unexpected. I didn’t cry. I didn’t jump up and down. I held my breath and walked away.
This was everything I had ever wanted, but I knew how fragile it was.
I had friends that had lost babies, and I was terrified of getting my hopes up. I didn’t even tell my husband I was pregnant for four more days! Once we saw that tiny little heartbeat for the first time, I breathed a sigh of relief, and all the emotions I had been waiting for came pouring out.
At our first appointment, the doctor asked if we wanted to do a blood test to determine the gender. Of course, we did! He also explained that the blood test would also indicate any genetic issues such as Downs Syndrome. He told me with our age and health. It wasn’t something we should worry about. We agreed to the blood test and set up the appointment.
Two weeks later, at 8 weeks pregnant, a woman came to my door and drew my blood in my kitchen. I remember thinking the situation was weird. Why wasn’t I at Quest Diagnostics? I was very uncomfortable and thought, “I hope my blood doesn’t get mixed up.”
Two more weeks went by, and here is where the blind side occurs. It was a rainy Monday in November, and I was standing in line at Target. I held a teddy bear that I was buying for a needy student at my school for Christmas. My phone rang, and the conversation went like this:
Dr.: Hi Caitlin, this is Dr. XXX. How are you? I have some news to share with you. We got the blood test results.
(Weird…usually the nurse calls. Why is my doctor calling?)
Me: Ok?
Dr.: Unfortunately, I am so sorry to tell you that you tested positive for Trisomy 13 (Patua Syndrome).
Me: Um. Ok? What is that?
Dr.: Well. It’s not like Trisomy 21, which is Downs Syndrome.
(Ok, well, I have no problems with having a baby with Downs Syndrome, so if it’s not like that, well then, it’ll be ok.)
Me: Ok. What is it like?
Dr.: Typically, women who have a baby with T13 miscarry. If you do carry full term, the baby will not survive.
(What? Here I am thinking it’s not as bad as DS. It’s exponentially worse. These babies have one eye, half of a brain and heart, extra fingers/toes, club feet, cleft palates, etc.).
Me: Are you sure about this? What are the chances that this is correct?
Dr.: It’s a 40% chance. I must tell you, we rarely ever see this. It’s about 1 in 20,000.
Me: Did I do something to cause this? Both of our genetic screenings came back clear for everything.
Dr.: No. This is a fluke. I am so sorry. In the meantime, I need to set you up with a Doctor at Yale to have a Chorionic Villus Sampling (CVS) to confirm.
I hung up the phone and immediately called my husband. I was screaming and crying on the phone, and he could barely understand me. He drove right to the Target parking lot and picked me up. When we got home, my mom, aunt, and cousin were sitting in my living room. We cried, asked lots of questions, and tried to sort through our confusion and anger.
I started thinking back on the blood draw. Something didn’t seem right. It couldn’t have been my blood. She messed up, I thought. It was too early in my pregnancy to have that test. I should have waited another 2 weeks. It cannot be accurate.
I went to Yale two days later to meet with a genetic counselor. She asked me a ton of questions. How old are you? What is your health history? What are your mothers, fathers, maternal grandparents, paternal grandparents, aunts, uncles, and cousins’ health history? Any genetic diseases or conditions in your family? She asked the same questions to my husband. Then, she took our information and put it into an algorithm. She turned the computer screen around and showed us. She pointed to a number and said, “This is your chance of the baby having Trisomy 13.” The number was 3. We had a 3% chance that this was actually an issue. So, it could have been a false positive. Actually, it is 97% likely that it was a false positive.
What a difference a day makes. We suddenly felt alive again. We started breathing, smiling, talking. If I could have jumped over the desk to hug that lady, I would have.
She explained the procedure and led us into the exam room. A long needle would go through my stomach and into my placenta. It would collect DNA from the placenta to determine if the cells were actually abnormal. She explained that it would be slightly uncomfortable, if not painful, but the pain wouldn’t last long. I would have to rest or at least 24 hours afterward. I’ll be honest; I am weak when it comes to pain. I cry when I stub my toe. I was scared.
When the doctor came in, he explained that he could not do the procedure because I have a retroverted uterus. He said my uterus would tip forward once the baby got big enough. He asked me to come back in a week. I felt disappointed, knowing another week of worry was ahead of me until we could get some results.
A week passed. I took another day off work and headed to Yale. Guess what? Still retroverted. Another week passed, another day off from work. At this point, I was almost 15 weeks pregnant. I finally had the procedure done. They weren’t kidding about the size of the needle. YIKES. The worst part was that when the needle was inserted, they had to shake it to collect the DNA. They told me it would take another week until the results came in.
Throughout the waiting period, I spent every day researching false-positive blood tests. Everything seemed to be in my favor.
With this typical genetic disorder, it is tough to read the chromosomes properly, and out of all the Trisomys, 13 has the highest case of false positives. The reason is that the chromosomes are extra-long, and determining the length can be extra tricky. At that point, I had convinced myself that this was certainly a false positive.
Three days after the CVS, it was Christmas. We had the results of the baby’s gender in an envelope, and my husband and I thought long and hard about whether we wanted to move forward with the reveal without the results of the CVS. Ultimately, we decided to move forward as planned because 1. Regardless of the results, this was our baby. He/she deserved to be celebrated. We loved him/her regardless. 2. We had faith that he/she was healthy. 3. We are big believers in the law of attraction and positivity. If we all had positive mindsets, positive things would happen.
Because I’ve always dreamed of being a mom, I used to think a lot about whether I would have sons, daughters, or both. I found it fascinating that we would never know until it happened. I always wanted at least one of each, but if I could only have one, I’ll be 100% honest, I wanted a girl. My mom is my best friend, and I love our relationship. I wanted to have that same relationship with a daughter. Girls also love their Daddy’s, and being a Daddy’s girl myself; I hoped my husband would get to experience that. So, our best friends put together a box filled with balloons, and we all counted down from 10. GIRL! We were overwhelmed with excitement and love.
Now that everyone knew she was a little Miss, everyone could pray for HER and send positive vibes and thoughts to HER while we waited.
Three days after Christmas, the call came in around 9 a.m. My husband and I were both sitting on our bed. I remember the geneticist’s voice so clearly.
Geneticist: We got the results, and I am so sorry to tell you that it did come back positive for Trisomy 13. I am so sorry. I am just as shocked as you are.
Caitlin: Is it definite?
Geneticist: This test indicates a 99% chance that the baby has Trisomy 13. I am so sorry.
Caitlin: Is there anything else we can do to make sure?
Geneticist: You can get an amniocentesis, and I recommend you do, but remember, the CVS results are 99% accurate.
I remember a cloud coming over my eyes. My vision got blurry, and I laid back on my bed. I looked at my husband and repeated the words, “No. I don’t believe it. It’s not true. How could we be that 3%?” We were in shock. We were destroyed. We were beaten down.
There was nothing else to say. Nothing would make us feel better. This was our baby girl that we couldn’t wait to hug, kiss, and celebrate all the firsts…words, steps, birthdays, soccer games, dance lessons, days of school, holidays, siblings, prom, boyfriends, college, weddings, babies of her own… I wanted to celebrate all of it. We felt like our dreams were being shattered.
As we all sat around, we received a phone call from my OBGYN. Little did we know, this was the phone call that would talk us off the ledge. I remember his words clearly. “I know the CVS came back positive, but I just don’t believe it. Your ultrasounds show a perfectly normal baby. Now, it’s still early, so it could be too early to see, but I don’t want you to give up hope just yet.”
Wait. What? Hope once again?
All-day, we tried to focus on the OB’s words, but we knew the statistics were not in our favor. We had to be realistic but hopeful. But, something deep in my soul, in the back of my brain, kept telling me…she’s ok. Call it mother’s intuition.
The doctor explained that the CVS results are extremely accurate; however, there is a 1% chance that when the baby was developing, it recognized something was wrong with the placenta, separated, and created its own DNA. It was a Hail Mary. A miracle, to say the least. That’s ok. We believe in miracles.
He recommended I get an amniocentesis, which differs from a CVS because it collects DNA from the amniotic fluid rather than the placenta. If just 1 cell out of the 100 collected showed signs of Trisomy 13, all hope would be gone.
My husband had bought me a Himalayan salt lamp for Christmas, so we turned that on in our bedroom. It’s supposed to expel negative ions and create a peaceful and tranquil environment. I laid in bed, tossing and turning, thinking of every possible outcome. Around 2 a.m., we were both up, sobbing. We sat in bed, talked, and cried until around 5 a.m. We both had hope. We knew she was meant to be with us. How could anyone tell me that this perfect baby wasn’t meant to be with us? I will never forget that night for the rest of my life.
In one of our darkest hours, we were praying, hoping, clinging to the smallest little glimmer of hope.
The following week we headed to Yale for the amniocentesis. Before doing so, we sat down with the genetic counselor, who discussed the CVS results. I asked her what was going to happen if the amnio results came back positive for T13. She explained that since I would be too far along for a D&C, I would have to deliver my baby around 24 or 25 weeks. I recall my husband asking if we would be able to start trying to get pregnant soon after. She reminded him that this would be a traumatic experience that would probably require some therapy and counseling sessions before we even think about trying again.
The doctor once again went over the risks of having a procedure like this, and I had to sign a bunch of papers stating that I understood the risks. The needle for the amnio could be inserted vaginally or through the stomach, depending on the baby’s position. There was a giant screen above the bed, so you could watch the needle be inserted into the amniotic sac. The doctor who performed both the CVS and the Amniocentesis was uplifting and optimistic. Before beginning, he carefully chose his words as he explained his findings on ultrasound and in DNA. He agreed that the two weren’t correlating. The ultrasounds looked good. In fact, she looked great. The DNA was stating the exact opposite.
The amniocentesis was painful but not as bad as the CVS. It felt like a sharp, cramping sensation. When it was over, they told us we would receive the results in 14 days. 14 days? We must wait another 14 days to know whether or not our baby is going to survive? That felt like a lifetime.
After the procedure, they brought us to another geneticist’s office to discuss further information. At that point, I was sobbing. I recall this particular geneticist being cold and unfriendly. She stared blankly as I held my face in my hands. She slowly pushed the tissues towards me as we all sat in silence. I remember thinking, “How could anyone be that cold while explaining to hopeful parents that there is a 99% chance their baby is going to die?” I despised her. She explained that in two weeks, at exactly 5:00 on a Thursday afternoon, she would call with the results.
That dreaded Thursday, we turned on the salt lamp and did not speak to each other. Instead, I sat on the couch and tried to breathe, on the verge of a complete meltdown. My husband paced. I stared at my phone. 5:00…no phone call. 5:10…no phone call. We were starting to lose our minds. Our entire future plans, hopes, dreams, and goals were coming down to this one phone call. We were waiting for someone else to tell us if our baby was going to live or die. If that isn’t stress, I don’t know what is.
5:15 the call came in.
Geneticist: I have GREAT news! We tested 100 cells, and all 100 came back perfect and free of Trisomy 13! Congratulations! I am so happy for you!
When we hung up the phone, we cried, we hugged and cried some more. We have truly never felt that type of relief in our life. We were the 1%.
The next step was to talk to the doctor about my new diagnosis, Confined Placental Mosaicism (CPM). It’s a condition where the placenta is made up of Trisomy 13 cells, but the baby has it’s own separate and healthy DNA.
I began to read a ton on CPM. I learned that there’s a small chance that I could have been carrying twins, one with Trisomy 13, and it got absorbed into the placenta. This is called the “vanishing twin.” There were risks associated with CPM. Intrauterine Growth Restriction (IUGR) was a common problem for CPM patients. It means that the placenta begins to give out at some point, and the baby stops growing. In that case, I would have to be induced early.
I went for weekly ultrasounds and stress tests to monitor the growth of the baby. If at any point they saw that the baby had stopped growing or the amniotic fluid was low, they would induce me. This could likely happen anywhere from 32 weeks on.
Week after week, this little 1% miracle baby was strong, growing, and continuing to defy odds. When we reached 39 weeks, we felt like we had run a marathon. We were thrilled, anxious, and ready to meet our little fighter.
There was no need to make my placenta work any harder at full term, so they decided to induce me at 39+4. My placenta had been calcified for quite some time anyway and would probably be giving out very soon. We didn’t want to take any more chances. At the hospital, I plugged in the trusty Himalayan salt lamp to prepare for labor. Our little warrior princess arrived after a brutal and excruciating 40 hours of back labor with a failed epidural. When the doctor put her on my chest, I remember my very first thought was that she was truly perfect.
I thought about all the women that received that heartbreaking phone call about blood work results coming back bad. All those little perfect babies that weren’t given the chance because moms were too scared, uninformed, uneducated… If they had just waited it out, held on one more day, went for one more test, maybe they would have gotten to experience the miracle that I did.
In the days and weeks to follow, my CPM diagnosis quickly left my mind. I was enthralled with my newborn baby. It was almost as if I had completely forgotten that someone was once trying to tell me my baby was not going to survive.
Now, more than ever, I believe in the power of positive thinking and prayer. I knew my baby was ok. I knew that even though DNA cannot be argued, something told me never to give up hope.
Even after my daughter was born, I was warned about “residual DNA.” The doctors said things to me like, “We will see what her mental capacity is” or “the Trisomy 13 can be in her hair or nails.” I don’t even know what that means, but it was enough to frighten me. At 17 months old, my little fighter is as developmentally appropriate and very much advanced as they come. She walked at 10 months and is now talking up a storm. I never doubted her and knew she’d show off her undeniable strength and fight. She’s destined to be someone special.
Three months after my daughter was born, I started writing this blog post. The day I completed it, I found out I was pregnant again. Talk about a turn of events. Knowing that I’d have to make some serious decisions about genetic testing again very soon, I ignored the blog post and put it on the back burner. I didn’t want to be reading, worrying, and thinking back on that experience. This pregnancy was different, and I wouldn’t allow fears to control my thinking.
Many people asked if I would do the testing again since the results were “inaccurate.” But the truth is, the results weren’t inaccurate. Because of the advances in modern technology and medicine, I knew that I had a faulty placenta that would require special attention and care. Had I not gone for that test, I wouldn’t have been induced, and therefore my placenta could have given out, ending in a terrifying and tragic situation. Yes, I would have saved myself lots of stress and worry during the pregnancy, but it was 100% worth it.
If you’re considering genetic testing, I highly recommend it. The more educated you are about your own body and your baby’s body, the more educated your decisions will be. Because I trusted my doctors and testing, I have the perfect little girl who makes me laugh every day.
I went ahead and did the testing during the second pregnancy, and thankfully, everything turned out perfect. It was a very different pregnancy. Quick, stress-free, easy. In July, we welcomed another sweet little girl who reminds us every day how the most shocking surprises tend to be the best surprises.
If you’re in a similar situation and need advice, answers, or just someone to talk to, email me at [email protected].
Don’t give up hope. Trust your mother’s intuition. Think positively. Pray.
