Copyright 2010 Bridging the Gap of EA/TEF: A Family to Family Support & Resource Network. All rights reserved
When first told of the diagnosis of EA/TEF, almost all families have those two BIG questions: 1. What is EA/TEF and 2. What does this mean! Under our sister site Bridging the Gap of EA/TEF, we were very honored to have Dr. Foker submit a write up for us to share with families. This write-up contains the aspects of what EA/TEF is and some of the important questions to ask that lay ahead.
Initial Diagnosis of EA/TEF
Written by: John E. Foker, MD.
PhD
The figures in the picture below coincide with the article below.
You have just been told your child has esophageal atresia (EA).
This startling news may come during a fetal ultrasound or shortly after the birth of your baby.
Your immediate questions are what is esophageal atresia and, more importantly, what does it mean for my baby?
The answers are important and a good beginning but there is more you should discuss with the surgeon.
What is esophageal atresia?
The definition of EA is relatively simple; it means an absence of a portion of the esophagus, the muscular tube which connects the back of the mouth to the stomach and allows the swallowing of everything from saliva to food.
The answer to the second question is more difficult because EA is not a single uniform birth defect of the esophagus but, rather, includes a wide spectrum of severity. Babies with EA may range from having only a very short portion missing to being born with almost no esophagus in the chest. The upper pouch typically ends in the neck or upper chest and the lower end arises off the
stomach and is of variable length. The diagrams in Figure 1 show the spectrum of abnormalities found in EA.
As can be seen, the missing portion is located in the middle of the esophagus and the gap may be short with the upper or lower esophageal ends close together (Fig. 1 C). Or, a great deal may be missing leaving the ends far apart (Fig. 1
A1, A2, B). In addition, there may be a communication with the airway (usually the trachea) from either the upper or lower pouches (Fig. 1 B, C, D) which is called a tracheoesophageal fistula (TEF).
What does it mean for your baby?
What EA means for your child has a great deal to do with how much esophagus is missing. What makes EA more difficult to repair surgically largely depends on the distance or gap between the upper and lower parts of the esophagus. For the majority of infants with EA, the gap is short principally because the lower portion of the esophagus enters the back of the trachea forming a TEF. Having a lower esophageal TEF insures it will be lying relatively close to the upper pouch (Figure 1C and 1D). When the ends are close together, the gap is short, and the surgical repair is straightforward.
If the connection to the back of the trachea is missing, however, the lower esophagus is often very short and may barely extend above the diaphragm which forms the lower boundary of the chest (Fig. 1 A2, B). For some unlucky infants, the lower esophagus may not even reach up to the diaphragm and can be found only with difficulty in the studies done to evaluate the situation (Fig 1 A1). The repair of these defects will be more difficult and take more time. Consequently, the gap between the two esophageal segments will be the most important factor in determining the ease of a primary (upper esophagus to lower esophagus) repair.
What do the studies show? What are the plans?
With the above as background and after the initial shock of the news that your baby has esophageal atresia has passed, you should ask the surgeon for the important details. First, ask what has been determined about the two esophageal ends? Does the lower segment enter the back of the trachea (TEF), making a primary repair likely? If the first x-rays do not indicate that a TEF is present
because no air is seen in the stomach and small bowel, it is more likely the ends lie fairly far apart and the desirable primary repair will be difficult at best.
If your baby appears to have a favorable type C defect with a lower esophageal segment fistula into the trachea and is otherwise in good shape, an operative repair within a day or two will likely be recommended. This is certainly appropriate if the surgeon has experience and success in treating similar cases. Most times, a successful repair will be carried out and the problem of EA will be well on its way to being cured.
You should raise the question of the surgeon’s experience and success rate. Be sure to ask if your baby’s EA will likely be straightforward to repair. If there is the slightest doubt expressed by the surgeon before the operation, however, it is very desirable, I believe, for you to ask what will be done if the repair is judged not possible in the operating room. My recommendation is
that you should request that nothing be done except to divide the fistula and suture the lower esophageal segment as high as reasonable within the chest cavity. If you don’t make this request, the surgeon may go ahead and bring the
upper pouch out to the skin creating a cervical esophagostomy (spit fistula). With a spit fistula, it will be more difficult to eventually achieve a true primary esophageal repair. Dividing the fistula removes a significant source of difficulties for the baby and should be done. With the fistula gone, a reasonable discussion can then be carried out over the next few days about what
the course of treatment should be.
For the EA defects that do not seem to have a TEF, the first recommendation will be to place a tube into the stomach (G-tube) which will allow your baby to be fed while more detailed x-ray studies of the lower esophageal end can be done and the next steps decided upon.
The lower esophagus can be studied through the G-tube. Perhaps the surgeon will say the lower esophagus can be seen only with great difficulty on the x-ray study or by placing a scope through the G-tube and into the stomach. The lower esophagus may even appear to be barely a nubbin on the upper surface of the stomach (Fig. A1). In these cases, a primary repair is clearly impossible at the first operation because this is a (very) long-gap EA (LG-EA). If the preoperative studies show the baby has almost no lower esophagus and the gap is too long for a primary repair, then it is very appropriate to discuss how this problem will be solved. For these patients, the parents can have a significant role as their advocate and in making the right choices for their baby.
Traditionally, at most hospitals, a severe absence of the esophagus like this would be treated first by bringing the upper pouch out to the surface of the neck (a spit fistula) which allows the saliva to be swallowed and drains into a bag on the neck. After a few months or even a year, a piece of colon or the entire stomach will be pulled up to connect with the upper esophagus and allow
the baby to swallow and eat food by mouth. These organs, when pulled up into the chest, often have long-term consequences. A lot of information is available on the early and late problems with using either colon or stomach to replace the missing esophagus. These consequences should be part of the discussion and you should ask about the early and later problems of these pull-ups.
More recently, the esophageal growth procedure (Foker procedure) has been developed so even patients with these severe EA defects can have the long-term benefits of an esophagus to esophagus repair. This procedure will be discussed later in this article.
Variations in treatment plans among the doctors
Even when your baby has a “favorable” type C EA, it is important to realize that there are considerable differences among surgeons on their willingness to repair these defects. The surgeon may find that the gap found is too long for a primary repair at the first operation. The final decision will be made by the surgeon in the operating room and a wide range of gaps may be judged “too long.”
Even babies with the common type C with a lower esophageal fistula into the trachea and an upper pouch relatively nearby, may be considered too long. Unfortunately, this variability in deciding how long is too long is just the first in a series of variations that will be encountered in the treatment of some of the most important issues relating to EA.
Surgeons and pediatricians also do not all agree on other issues such as how much reflux from the stomach into the esophagus is too much and what to do about the narrowings (strictures) that may occur after the esophagus is put together. It is important for parents to realize this considerable variation exists and that recommendations may vary from hospital to hospital , pediatrician to
pediatrician, and among surgeons. Consequently, parents should become as informed as possible about these issues and be advocates for their child as decisions are being made. If you don’t agree with the plans recommended, don’t hesitate to ask for a second opinion. Second opinions are now a fact of life.
All of this variability may be discouraging initially to parents which is understandable. The concepts surrounding EA are not difficult, however, and as you ask the doctors to explain the situation, the issues will become clearer and it will become easier to participate in the decisions.
The growth procedure and long-term goal of normalcy
Although everyone wants to get the immediate problem of EA behind them, the goal for the child should really be for 70 or more good years. The chances of a colon interposition, and especially a gastric pull-up procedure, providing 70 good years is small. When all the facts and the likely consequences are discussed, read about and understood it will seem very reasonable to consider
strongly a center where a primary esophageal repair can be carried out even for LG-EA.
Our experience with the growth procedure now extends over the past 15 years and indicates that all these long gap EA infants will likely have a small or even tiny lower esophageal segment. These segments can be reliably grown, however, and an outwardly normal lower esophagus will result. When the esophageal ends are adequately grown a true primary repair can eventually be
carried out with all of its long-term benefits. These children can be expected to eat normally and it seems very unlikely this favorable result will change over the years. Our recommendation for infants with LG-EA, therefore, has been to grow up the two esophageal ends so a true primary repair can be done.
The growth procedure does require as least two operations, however, one to stimulate growth and the other to put the ends together. The length of time required for the growth to take place depends greatly on how much esophagus is present. If it is only a tiny nubbin, several weeks may be required for adequate growth to take place. For most of the type A and type B patients, however,
adequate growth can be achieved in one to two weeks, to make a true primary repair possible.
It should be realized that the growth procedure (Foker procedure) is more difficult the smaller the lower esophageal segment. Consequently, it should be undertaken only by those with adequate experience at a center that has a team in place to take care of these patients. Only if a significant lower segment is already present, would it be reasonable to proceed with a growth procedure at a place with little experience. The final decision should be arrived at between the family and the surgeon.
John E. Foker, MD. PhD
Visiting Professor
Dept. of Surgery
Children’s Hospital of Boston
Kaster Professor of Surgery
Division of Cardiothoracic Surgery
University of Minnesota Medical School
My son was born on 15-02-2010 with Pure Esophageal Atresia (long gap). He is presently on g-tube feeding. his weight is now 11+ kgs. Repair operation as suggested by doctor is to be carried out at 13 kgs. I stay at Calcutta,India so it will not be possible for me to attend Boston. Here the surgeon is opting for gastric transposition. When the baby will be around 13kgs , stomach will be used to create esophagus. Will my baby be able to survive a normal life in future. Will there be many negative consequences in gastric transposition? Pls suggest me
Hi Saikat and welcome. I, myself, do not know alot about the gastric transposition, but I do know that if you call or email the EAT Program they are amazing and can get back to you quickly. Here is the website for the EAT program:
http://www.childrenshospital.org/clinicalservices/Site2807/mainpageS2807P0.html
On the main Ch Boston site there should be an international phone number you can call and then ask to be connected to Michelle at Dr. Russell Jenning’s office. Michelle is Dr. J’s assistant and is amazing in finding answers to your questions quickly.
Hi Saikat, how is your baby now?
My daughter was also born without ea, gap was not that long,
Just wanted to check if there is any effect post surgery
Hi bridgeofhopeea! My Son will have a gastric pullup / colon interposition, I tried checking the link however it the International Center (on the link you posted above) is not available. I would also like to seek advice regarding these type of surgeries and would love to send xrays of my son if possible to get feedback. However the email option there would allow me to attach any files. Any advice is greatly appreciated. Thank you 🙂