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Here’s the True story of My High-Risk Pregnancy Journey

my high risk pregnancy blog cystic fibrosis genetic disease

I have to admit that it took me a long time to write this pregnancy blog. I abandoned writing this post many times. My pregnancy was very difficult emotionally, filled with a lot of fear as well as faith. I found out I was pregnant in July of 2020. In December of 2020, my Dad received his lung cancer diagnosis. We ended up losing my father a few weeks after my son’s birth. I won’t focus on discussing my Dad’s journey in this post so as to avoid confusion between the two timelines. I mention this because it caused additional stress and emotional pain during my pregnancy.

Pregnancy Blog Part 1:The 12 Week Ultrasound

Going into my 12-week ultrasound and check-up, I was most concerned about taking the test to find out the gender of my baby. The last thing I was expecting was to find out that there might have been something wrong with my baby. 

My OBGYN office sends their patients to a maternal-fetal medicine clinic for ultrasounds. My boyfriend, Justin, was not allowed to come with me to my appointment due to the office’s COVID restrictions.

The ultrasound technician came in and took what seemed like a ton of photos of our baby. At some point, as she slid the camera around on my belly, I asked her if everything looked ok. She seemed a little flustered. She told me she was unable to go over any of the results with me. I would have to wait for the doctor.

Upon hearing this, I thought it was kind of strange. I started over-analyzing why she would say that, and my heart and thoughts began racing rapidly. The ultrasound technician began to get more chatty and upbeat. I thought to myself, “oh no, I’m for sure getting bad news.”

As I waited for the maternal-fetal medicine doctor to come in, the minutes seemed to pass by in slow motion.

pregnancy blog baby bump high risk pregnancy cystic fibrosis
pregnancy blog baby bump high risk pregnancy cystic fibrosis third trimester

And so the worry begins…

When the doctor began to speak to me, I couldn’t help but notice she had an un-even, nervous-sounding voice. She told me that they found something concerning.

The doctor explained that at a certain point in pregnancy, a process occurs (one that I was completely unaware of). First, the baby’s intestines go outside of the abdominal wall. Then they twist around and go back inside the baby. Then the abdominal wall closes.

She then explained that sometimes the abdominal wall closes when the baby’s intestines are still outside of the abdominal wall.  She said when this happens, there are 2 different ways that it can occur.

One instance is called “gastroschesis” which is where the abdominal contents (intestines) are not contained. The baby would have to have surgery once he was born or at some point very soon after.

The other instance is called an “omphalocele,” which is where the abdominal wall contents are contained in a protective sack. The doctor said the concern with an omphalocele is that they’re associated with the possibility of having one of 2 commonly associated genetic conditions; trisomy 13 or 18.

 She went on to tell me that the concern with a baby with trisomy 13 or 18  was that the baby’s life expectancy wouldn’t be more than a year. The baby was still very small. They wanted to monitor me and perform ultrasounds every 3 weeks to keep a close eye on what was going on.

This was the first time they told us that we had the option to terminate the pregnancy if we wanted to. We were actually told this on 3 separate occasions during my pregnancy. I understand that they have to tell you all of your options, and I believe women deserve the right to decide these things for themselves. However, when I was told this, it was really upsetting. I felt so happy to be pregnant with my second child. Hearing this multiple times made me question my own instincts. 

 My heart dropped to my stomach. Even though this baby was so tiny, I was already in love with it. I had just seen it on the ultrasound screen, looking like it was jumping up and down on a trampoline in my belly.

Before I left the appointment, they took my blood to conduct the NIPT test, which would test for trisomy 13, 18, and 21, and could also tell us the gender of the baby. At that appointment, I mentioned that I am a carrier of cystic fibrosis. I asked if Justin could get genetic carrier status testing done. We set Justin’s genetic testing to be done at my next ultrasound. The doctor told us that they usually didn’t let significant others in because of covid but that he could be present based on our circumstances. 

The NIPT Results

The wait for the NIPT results felt so long; in truth, it was about 2 weeks. 

Justin got a full panel done where they tested him to see whether he was a carrier of various genetic conditions. A couple of weeks later, when we got the results, we found out he is a carrier of cystic fibrosis too.  My maternal-fetal medicine doctor told me that if we wanted to, we could do an amniocentesis to find out in-depth information about his genetics.

The Amniocentesis

On my drive to my next appointment, I had it in my head that I would not get the amniocentesis, and whatever the outcome was with Ethan’s genetics would be what it was. At the end of the ultrasound visit, the doctor came in and said it looked like Ethan might have fluid in his abdomen, which was concerning to the doctor as it might be fatal to the baby. She recommended that we do the amniocentesis. 

Going through that procedure was one of the most terrifying things I’ve gone through in my entire life. Especially since Justin wasn’t allowed at the majority of my doctor appointments due to covid. All I could do was pray that I could stay still and that the needle wouldn’t get anywhere near Ethan. She put the massive needle in. I clutched the pillow behind my head, squeezing it tight with both fists, trying to focus on keeping my breath even. The first time she put the needle in, it wasn’t in a good spot. The doctor then had to remove it and insert it again. It felt like the longest few minutes of my life.

Over the next few days, I felt so scared to move. There is a risk of possible miscarriage after the procedure so I did everything I could to stay calm and relax. I even took an extra day off of work.

The visit after the Amniocentesis

We had a lot of people praying for us, and when I went back for my next scan, the swelling wasn’t there! She said it may have just been the umbilical cord wrapping around and looking like it was part of the abdomen. 

When we finally got the amniocentesis results back at 18 weeks, we found out that our sweet baby boy has cystic fibrosis. Cystic fibrosis is a condition that causes the mucus that the boy produces to be thick and sticky. It causes lung infections and breathing issues. In Ethan’s case he has 2 copies of the most common defect that causes CF, so he will also have issues with his pancreas where he will have to take enzymes before every meal so that his body can absorb the nutrients he needs.

Following that appointment, we met with a doctor from the pediatric surgical team and the NICU staff to talk about the possible surgery Ethan would need if he had an omphalocele or gastroschisis.

My pregnancy progressed, and finally, during the 3rd trimester, we got some good news! As Ethan’s got bigger, the MFM doctor could see images of him more clearly and she said it was looking more and more like he may just have a cyst on his umbilical cord rather than having part of his intensities growing outside of his abdomen.

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pregnancy blog baby bump high risk pregnancy cystic fibrosis diagnosis
pregnancy blog baby bump high risk pregnancy cystic fibrosis diagnosis

Pregnancy Blog Part 2: The Delivery

Due to all of the concerns about Ethan’s possible abdominal issue, I had to be induced 3 weeks early. When Ethan was born a portion of his umbilical cord, closest to his abdomen, was really crazy looking and misshapen. They took him up to the NICU after about 5 minutes of me holding him. They did an ultrasound, and his belly was intact! He did have an umbilical hernia though, which is getting better and will hopefully repair itself without surgery.   

The NICU

We spent 9 days in the NICU. It was stressful because they were trying to make sure he would gain weight due to his Cystic Fibrosis. He lost weight the first week. I advocated my butt off to get the NICU doctors to start his enzymes. I called his CF nurse and she had his pulmonologist come to see him right away. He recommended starting him on enzymes right away due to his specific CF genetic mutations. Finally, the NICU doctors listened.

Once prescribed, we learned to feed him his enzymes in apple sauce, and he started gaining weight! Unfortunately, Ethan had an apnea episode, so he had to stay 5 additional days hooked up to monitors. Better safe than sorry, though!

It was a long 9 days. I was so ready to get our little guy home. On top of that, I was missing my oldest son Landon so much while we were there. I felt frustrated having to scrub in every time I went to see my baby. I felt frustrated that my baby wasn’t in the room with me when I slept. Instead, he was across the hospital. I’m so grateful for all of the NICU nurses. They taught us tricks to keep our sleepy guy alert to get through feedings and took great care of him. I’m also grateful we were able to stay at the hospital throughout Ethan’s whole stay. 

Finally, Home!

We went through a lot with our boy, but he continues to amaze us and defy all the odds. He is a true warrior. Ethan Alexander, we love you!

Thank you for reading my pregnancy blog. If you are going through a tough pregnancy or diagnosis of your child, feel free to reach out. I understand how helpless it can make you feel.

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  1. Hi love, what an amazingly detailed blog! I’m not a mom, but I can see how knowing all these details…

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