January is Tracheoesophageal Fistula/Esophageal Atresia (TEF/EA) Awareness Month
The esophagus is the tube that connects the throat to the stomach. The trachea is the tube that connects the throat to the windpipe and the lungs. In early development, they begin as a single tube that normally divides into two tubes (at about four to eight weeks after conception) that run parallel in the neck. If this does not occur correctly, TEF/EA is the result.
So, what exactly is tracheoesophageal fistula/esophageal atresia?
Tracheoesophageal fistula (TEF) is when there is a connection between the esophagus and the trachea. TEF frequently occurs along with esophageal atresia (EA) which basically means that the esophagus doesn’t form correctly during pregnancy. TEF/EA occurs in 1 in 3,000 to 5,000 births. It occurs alone in about 40% of the affected, and in the rest of cases it occurs with other birth defects or as a part of a genetic syndrome. TEF/EA is life-threatening and requires surgery to correct the malformation.
Until November 2019, I had never heard of TEF/EA and up until that point in my pregnancy, 32 weeks, I was under the impression that I was having another healthy pregnancy (my son Henry was born 11/2015). At my routine 32-week scan, my OB-GYN officially diagnosed me with polyhydramnios, which is an excess amount of amniotic fluid in the womb (they had been monitoring my fluid levels more closely since my 30-week appointment), and I was quickly referred to a specialist. In addition to the increased fluid, my daughter’s stomach bubble appeared smaller than normal on the scan. TEF/EA cannot be officially diagnosed prenatally but given my increased amniotic fluid and the small stomach bubble, there was enough evidence to suggest that this might be the case. In the midst of specialist appointments, transferring my care from my trusted OB-GYN to a team of doctors at a new hospital, discussing best and worst case scenarios with a confirmed TEF/EA diagnosis and meeting with the world-renowned surgeon that had invented the life-saving surgery my daughter might need, I was equal parts mourning the idea of bringing home a healthy baby (her expected due date was January 2, 2020) and trying to remain positive – because the diagnosis was not confirmed and she could still be perfectly healthy.
To ease my anxiety, we planned a scheduled induction at 38 weeks to avoid the Christmas and New Years holidays to ensure that the surgeon I wanted to perform her TEF/EA repair was on call and not away on vacation. What is that saying about best laid plans? Anyway, Romy Louise Ottrix made her entrance into the world five weeks early on November 29, 2019 – the day after Thanksgiving – another holiday, meaning our handpicked surgeon who we had grown to trust would not be available to perform her surgery. After a few short moments of skin to skin, the doctors whisked Romy away to put a scope down her throat – her TEF/EA was confirmed right there in the delivery room – her esophagus was a small pouch, only a few centimeters deep. Later, a chest X-ray confirmed that she had a connection from her trachea to her stomach.
Her procedure was scheduled for the following morning, a three-hour surgery that ended up lasting over six hours. After surgery, we got to see her in the neonatal intensive care unit (NICU) where she was sedated for the next seven days, and we could not move her or hold her. It was the longest seven days of my life. From there, we had quite the journey to get our sweet Romy home. The doctors discovered another fistula between her esophagus and trachea – which we were later told shared a cell wall – making fistulas more likely. This fistula made it so that it was not safe for her to be fed by mouth. To get her home sooner, the doctors placed a gastrostomy tube (g-tube) to bring her nutrition and fluids directly to her stomach. For the next 18 months, I fed Romy four to five times a day through her g-tube. As you can imagine, this was extremely time-consuming and because of that, isolating. After seven procedures to close the congenital fistula, we were given the okay to feed Romy by mouth. She has been making up for lost time, trying anything and everything that is put in front of her .
We just celebrated Romy’s two-year anniversary of coming home from the NICU, where she spent eight long weeks. Today, she is a healthy, thriving two-year-old who is in the 71st percentile for weight and the 98th percentile for height – surpassing all her doctors’ expectations who warned she might “fail to thrive” or who would likely always be petite. To date, she has had over 10 surgeries and will likely require more as she grows. It is common for TEF/EA babies to experience narrowing of their esophagus at the original repair site, requiring dilations so that food doesn’t get stuck.
So why should we raise awareness? Because many people have never heard of TEF/EA, unless you know someone who has personally experienced it; unlike many other birth defects, there isn’t a lot of support. The cause is still unknown, right now it is believed that it is caused by a combination of genetic and environmental factors. Many babies with TEF/EA experience ongoing complications long after their original surgeries, and some throughout their lifetimes. These include acid reflux, floppy esophagus, failure to thrive, barky coughs, constricted airways, silent aspiration, among many other things.
TEF/EA definitions and stats pulled from:
https://medlineplus.gov/genetics/condition/esophageal-atresia-tracheoesophageal-fistula/