In October 2019 I gave birth to my baby girl Xara Nadia. She was a preemie, born at 34 weeks.
Prenatal examinations led to a diagnosis of a rare birth defect called esophageal atresia.
I’ll give my best to explain all the crucial moments during my pregnancy and after the delivery. I do this to support and encourage other parents, but above all moms to be, who find themselves in the same or similar situations.
Prenatal diagnosis of esophageal atresia can be very stressful. When we were going through all the exceptionally sad and uncertain situations with all the tests and examinations in pregnancy, I was desperate to find and read about the similar experiences of other parents on the web. Unfortunately, I couldn’t find anything. I could only find plenty of expert texts and scientific papers, so I read them.
Since it’s a long history of circumstances that led to the diagnosis of long-gap esophageal atresia in my baby and repair of the same, I had to organize two posts about it. In this first post, the emphasis is on the prenatal diagnosis, and in the second on the post-birth ongoing and the repair of my baby’s esophagus.
This is our story.
Prenatal Diagnosis Of Esophageal Atresia
My husband and I didn’t plan on having a baby. We wanted it, but we felt we weren’t ready for that kind of challenge yet.
Also, we thought that we need at least two more years to meet our goals and our needs – traveling & wandering in the first place.
Although Danijel kept saying that he can’t wait to have a child. I never took it too seriously. I was near the end of pursuing my master’s degree and wanted to finish it before any “tectonic changes” in my life.
However, as it usually happens in life – some things can’t be planned so easily. Long story short, in February 2019 we found out that I’m pregnant. Danijel was delighted, I was shocked.
Today we always say: our baby was unplanned but wanted.
My pregnancy was a rough one. I was diagnosed with hyperemesis gravidarum, polyhydramnios, and gestational diabetes. I had an amniocentesis procedure and two magnetic resonance imaging (MRI).
Sometimes at 4 weeks of pregnancy, nausea and vomiting became unbearable. I was vomiting approximately 20-25 times a day! I couldn’t drink, I couldn’t eat, I couldn’t sleep. I was weak and had frequent dizziness. After I have ended up in the ER for the second time, I was diagnosed with hyperemesis gravidarum.
That is an extreme form of sickness that causes severe nausea and vomiting during pregnancy. It occurs in about 0.5 to 2% of pregnancies (?!). It is believed that is caused by a rise in hormone levels, yet the absolute cause is still unknown.
The doctor has prescribed Zofran. For those who don’t know (as I didn’t know back then), this is a drug given to cancer patients in order to reduce nausea after radiation. I tried to avoid taking the medication, sometimes for several days. It was heavy. In my case, this condition lasted up to the 20th week of pregnancy.
Just when we were hoping the worst was over, I had the advanced ultrasound examination in the 2nd trimester which includes the assessment of the timely fetal development – precise diagnosis, organ screening, and malformation ultrasound.
After the examination, the doctor asked us to wait for the results in the hall. I remember the time passing slowly, really slowly; we became quite nervous, and then we found out about the shocking news. The examination of the fetal abdomen indicated that she was not swallowing sufficiently and that her stomach was not filling with fetal water. The doctor suspected Down syndrome (although the first screening was negative!) or esophageal atresia in the baby. I was diagnosed with polyhydramnios (increased level of amniotic a.k.a. fetal fluid). The first MRI examination, as well as the amniocentesis, were scheduled at the Vienna General Hospital. We were mute.
Esophageal atresia (EA) is a rare birth defect in which a baby is born without part of the esophagus (the tube that connects the mouth to the stomach). Instead of forming a tube between the mouth and the stomach, the esophagus grows in two separate segments that do not connect. In some children, so much of the esophagus is missing that the ends can’t be easily connected with surgery. This is known as long-gap EA.
Source: Boston’s Children Hospital
The amniocentesis procedure was scheduled pretty soon; if I remember right, in three days. I was scared. Of course. Someone will put a needle in my stomach and take some fruit water from it. My husband was also scared, but he was doing his best and in order to comfort me he kept repeating statistics, like the risk for miscarriage from amniocentesis is 1 in 200 cases. However, Down syndrome is definitely ruled out due to the findings of amniotic fluid which were negative.
Now, we had to wait two weeks for the MRI examination. First, you think that’s the worst part – waiting, but then you realize that the worst is maybe yet to come. So, you are constantly thinking to yourself – how will the MRI examination went, what will happen after, what are we going to do about it.
After the MRI examination results came we were sure that our baby definitely has esophageal atresia, yet doctors believed that there was no interruption between the esophagus and the stomach in the fetus, but that there was a so-called node. We were told that another MRI would be done in the seventh month of pregnancy, just in case, because there is a possibility (in 80% of cases) that the node recedes on its own and so there is no need for surgery after birth.
However, we were also informed that if the second MRI shows the same or similar results the baby has to be operated after the birth. Doctors pointed out that if that’s the case we don’t need to worry since the esophagus repair is a routine intervention and that we’ll go home for two weeks after the operation.
My husband and I felt somehow better, released. Our doctor’s words were quite comforting and we couldn’t even guess what was going to happen after the birth. What we now know is that they couldn’t have known back then either.
So, at 25 weeks came the second MRI and it showed no changes. My baby has esophageal atresia 100%, but now they are not sure is it a node or disruption in the esophagus. So we were informed that the repair of the esophageal must be done after birth.
Moreover, at 28 weeks after the routine control of the sugar level in my blood, we found out that I got gestational diabetes. That was real torture; gestational diabetes requires a lot of attention, especially with regard to meal preparation (five times a day), then regular walking or exercising, and my movement was hampered by the size of my stomach, plus my husband worked a lot, and since we were living alone, I had to do it all by myself.
In the meantime, the amniotic fluid level was significantly increased; I had 2.5 liters of excess! Doctors thought we would have to apply another amniocentesis procedure. I was told that it’ll be premature labor, so, the common goal was to keep the baby as long as possible in my stomach.
I was admitted to the hospital and given medication for delaying contractions and Cortisol, a drug for rapid fetal lung development. This drug has a significant role in a baby’s survival and development after birth. In addition, since I was still feeling well at the time, and the baby was active, doctors delayed amniocentesis.
After five days I was released home with the doctors’ advice that I had to constantly rest and if I notice any changes (such as, the baby is not moving like before or any kind of abdominal pain) I should be immediately “transferred to the hospital in a supine position”.
The next control check-up was scheduled for five days. [A day before, I’ve noticed that my baby is not so active as usual, and I had a really strange feeling.] So, we were there on time, and I explained doctors’ how and what I feel. The examination lasted like an eternity, and then I was told that a C-section would be done immediately. Placenta wasn’t looking good, and ‘baby wasn’t happy in my sac’, so that was the reason she was moving less. It was an emergency and everything happened really fast. In about one hour from that moment, my baby girl was born.
You can continue reading about the post-birth ongoing and the repair of my baby’s esophagus in my next post – Repair Of Long-Gap Esophageal Atresia In My Baby.
In my other post – Welcome Baby: My Preterm Birth Story At 34 Weeks I have explained how the cesarean section went for those interested in that topic.