In January 2011, at our 20-week ultrasound, we learned that our baby due May 21st was a much-awaited girl! As we basked in this happy news, the doctors spent an unusually long time on the ultrasound, then asked us to return for a followup because they could not find her stomach. We laughed about it at first and made witty jokes, and then as time went on and two, three, four ultrasounds later, there was still no stomach, we still had no answers for what that meant. Doctors began to look very grave when they would talk to us, and were speaking with long-distance colleagues about our unusual case. The worry was killing me. When I could not learn what I needed at the doctor's office after several visits, I began to search for answers on my own. I looked up the medical term for "missing stomach" (gastric atresia) and started researching, but to my surprise all of my searches led to information not about a literal missing stomach, but about a problem in the esophagus (food tube) that caused the stomach to become invisible on the ultrasound. Not one of the doctors we went to had explained to us the likelihood of Esophageal Atresia. I think perhaps they meant to mention it in a group of possible scenarios--in fact the doctor told us later that she never thought that the baby's stomach was actually physically missing-- but the fact was, our baby really did have a stomach, but her esophagus was closed off, ending in a pouch at the back of her throat. When a fetus is in its earliest weeks of development inside the mother, the food and air tubes start out as a single tube, and are supposed to separate into two distinct tubes, the trachea--for air, and the esophagus--for swallowing food. In one of about every 4500 babies, that doesn't happen quite right, and the esophagus is separated from the stomach during development. There is no known cause for the birth defect, and it happens to every demographic, to healthy moms who did "everything right" in pregnancy to take care of their unborn child. During development, the broken ends of the esophagus close off and form a pouch at the back of the throat and the top of the stomach.
The vast majority of babies can be repaired easily soon after birth with a surgery to connect the two ends of the esophagus, while a very few have a more difficult repair because the gap between the two ends is too wide to fix right away-- a condition called Long Gap. Some children struggle with scarring that requires frequent dilations throughout childhood, and many require a G-tube (a surgically inserted tube directly into the stomach from outside the abdomen) in order to eat for the early part of their lives, but most are eventually able to eat by mouth. There are other defects that frequently accompany EA, but the most common is called TEF, or TOF, where a tiny tube (fistula) has grown connecting the lungs and the digestive system. TEFs (the full name is tracheoesophageal fistula) are easily repaired, but like the surgery for EA it requires an open chest surgery called a thoracotomy. But I'm getting ahead of myself. As of March 7, 2011, what you read below is all we knew, and what we finally shared with our family and friends after two months of keeping this worry mostly private. The following paragraphs are assembled from bits and pieces of numerous emails and questions sent to me over that time of first discovering the issue with our unborn child. If you survive this rambling cut-and-pasted post and decide to jump into reading the more fluid story about Audrey's adventure, welcome and thank you for joining us on our journey. If you think you might be facing an EA diagnosis, please keep in mind that every EA child is different. They don't all fit perfectly into the textbook example categories, and no two journeys are exactly the same. Audrey is part of a tiny fraction of the hardest-to-correct type of this birth defect, whereas the majority of EA families deal with fewer long term issues than she. I encourage you to seek out the online parent support group, Bridging the Gap of EA/TEF, where I have found a lot of support and encouragement as we've traveled our path.
March 7, 2011:
Here is a general summary of what we know so far, assembled from emails to family over the past month:
- Baby looks super healthy in every possible way, except that they can't find her stomach. I know it sounds strange, even seemed a bit comical at first, but as ultrasound after ultrasound has continued to confound doctor after doctor, we've been slowly educated on how serious the situation can be. We've now seen three out of the four ultrasound specialists at the hospital. The MDs have spent a long time on the ultrasound, looking deep at a lot of things, and they even took the films to a medical conference to consult a national expert in GI fetal medicine. The good news is that there is absolutely nothing else they can find wrong with her, in any of her systems, meaning that it appears not to be part of another set of serious problems they sometimes see, although they are still watching her heart very closely because it is typical to have a heart defect alongside with this particular anomaly, but so far even that appears perfect. At first they thought her stomach might just be hiding somewhere, like on the other side of her abdomen, but the bigger she gets the less likely that appears.
- They said if it absolutely is not there, and if she has a sufficiently long esophagus, they can build her one surgically out of her own intestinal tissue after she is born.... I was excited to learn that she wouldn't be dependent on a donor baby; that would be so sad!
- We had another ultrasound on Monday afternoon February 28th, and the news was both good and bad. Her growth is perfect, her fluid levels are perfect, she's SUPER active, she is even practicing breathing with her little diaphragm which is a sure sign of a very healthy baby. The bad news is, her stomach is definitely not appearing in any of the scans. The doctors leveled with us finally on this, and said it means a number of things: first, that we are almost certainly needing to deliver in Salt Lake at the University hospital, it would be a scheduled induction with the possibility of emergency C-sec, and she is very probably headed for surgery. What makes this case so unique, in fact the only one the doctor has ever seen like this, is that every other possible thing they can inspect via ultrasound looks absolutely perfect. Symptoms like this usually accompany fairly predictable sets of physical issues, and the baby has none of them, no visible heart defect in particular, and no brain or nervous system problems they can perceive after copious inspection. Soft tissues that have no liquid in them are invisible to the machine, however, so they are only able to guess as to how she is getting fluid through her body, which is both a mysterious miracle-- and where the worst news comes in. We're in a waiting game, waiting until she gets bigger before they can see more, but because they don't know how she is getting liquids through her system, it could mean that there is something weird with her breathing system which would make her unable to survive outside the womb. Lungs are normally invisible, as are the trachea etc, so we are all literally in the dark. The MD said essentially, that at this point we just need to be prepared for anything, and particularly she stressed that she did not want to give us false hope, frankly that our baby might only be able to live for a couple of minutes after birth. Further, they don't know whether she would have enough of an esophagus to build off of surgically, and won't know pretty much until she is born. We've been processing this news, and working to have faith and trust in God's plan, whatever that is for her. We've felt your prayers and want to thank you with all of our hearts! Courage and strength are coming into us in waves, and we got a beautiful 3D photo from the ultrasound that shows her beautiful little face, her tiny fist rubbing her eyes, and cute unmistakably (our family) nose. :)
- They also clarified that none of this has anything to do with the babies being so close together, nor my age, nor this being our fifth baby. Also, because of extra fluid around the baby it is not my imagination that my belly really is stretching way bigger than normal-- I'm four weeks ahead on measurements, but it's all related to the stuff going on with her. LOL nice to know since I outgrew most of my cute maternity clothes and was feeling like I'm much closer than 12wks to delivery. Although, that's another thing they did warn me of, that this lovely large jacuzzi tub she's having such fun with can mean early contractions or water break too, so we'll have to keep that in mind when planning ahead. So, a mixed bag again of good and frustrating news, but again, thanks for all the sweet notes of support, it means a lot to me. Love you all!
- March 8, 2011----- I spent most of the past 36 hours combing through everything I could find online about her condition. As often happens, the search lead to many more questions, but I also learned a lot and felt encouraged by what I learned. If anyone feels adventurous or curious enough to peruse the same articles we found, here is a list of the best ones:
HELPFUL LINKS FOR FIRST LEARNING ABOUT EA/TEF
http://www1.umn.edu/eatef/whatis.html
http://en.wikipedia.org/wiki/Esophageal_atresia
http://www.chw.health.nsw.gov.au/parents/factsheets/tracheo_oesophageal_fistula.htm
http://www.chw.org/display/PPF/DocID/35572/Nav/1/router.asp
Also, here is a BASIC GLOSSARY of the most frequently seen relevant medical terms:
Atresia= missing or gap
Esophageal Atresia, aka "EA"= a gap in the food pipe, with opposing ends being closed off
Fistula=hole in, or tube between
TEF=Tracheo-Esophogeal Fistula, or tube connecting the windpipe and food pipe
Polyhydramnios= higher than normal levels of amniotic fluid
Gastric=pertaining to the stomach
Stricture=tightening or narrowing
blind pouch= the throat should be continuous but instead simply hits a dead end
Ok, so to sum up some of the cool things that I learned-
First, a big question popped into our minds very quickly, as we read more and more about these cases of atresia and found that there were virtually no cases in which there was actually no stomach present at all. A search for Gastric Atresia lead to almost
nothing online, certainly nothing that would lead us to believe that a healthy fetus could have literally no stomach and yet thrive the way she is doing. In fact virtually all of those searches led to articles on EA/TEF, so I read a lot about that. I was excited to find an article that has a list of the five primary types of TEF with simple diagrams-- in fact, my ten-year-old took one look at those diagrams and instantly explained to me with excitement what the doctors would do to fix each one.
 |
Diagram of the main types of EA with or without a tracheoesophageal
fistula (TEF). Type a is EA without a TEF and is often called pure
EA. Shown are the blind upper and lower esophageal pouches next
to the ringed windpipe (trachea) and the branches (bronchi) which
lead to each lung. Type b has a connection (fistula) between the
upper pouch and the trachea (a TEF). Type c is by far the most common
form of EA and has a fistula between the lower esophagus and the
trachea (one form of TEF) with a blind upper pouch. A rare form
(1%) is type d with two TEFs, one between both the upper and lower
esophageal segments and the trachea. Type e has only a TEF and no
EA. This is usually referred to as an H or N shaped fistula and
may be 2-4% of this group. The H-fistulas are divided surgically
and nothing further needs to be done to the esophagus which is intact
and reaches normally to the stomach.
|
It's pretty interesting actually, at least on paper. But again, the question about the stomach truly not being there, remained a mystery. Remembering how they had explained that all of the soft tissues were virtually invisible without fluid running through them, we wondered, could it be possible that the stomach is there after all, just invisible because it has no fluid inside? Something to ask our doctor at the next appointment.
We found so many statistical numbers pertaining to this. EA is found in one out of about 4500 live births. A diagnosis of EA in the absence of other anomalies (which is our current status) means the likelihood of the child being born with Down Syndrome is up to 10%, instead of the norm of about 2%. Survival rate of quickly treated common EA is above 90%, especially in babies who are beyond the 3 3/4 pound weight mark-- and we are nearly at 3 pounds already, with about 10 weeks to go. Wow. Great news. It is possible that she has the very rare forms found in the last couple of examples in the diagram, which could contribute to the healthy fluid levels in her system, but that would mean that her system had somehow either bypassed the stomach or truly does not have one, which is looking extremely, extremely unlikely.
I noticed that a lot of the information online about EA/TEF had been posted by the University of Minnesota Medical School and their associated hospital, with what seemed like a lot of inference to innovation and research on these particular types of problems, and I began to wonder if we might be better off traveling there for the surgery. Although we've heard many times that our Salt Lake hospital (Primary Children's Medical Center) devoted exclusively to children is one of the very best in the nation for rare and life-threatening disorders, the list of pediatric surgeons at the Primary Children's Hospital is long and non-specific in specialty, and though we don't know for certain yet we have been told that they simply work on rotation, not for specific cases, which worried me a bit. I started researching the surgeons, and then paused to look up our doctor we've been seeing for the ultrasounds. I discovered to my amazement that our "ultrasound doctor" as I've been calling her, is in fact a five-star rated OB in Maternal Fetal Medicine, specializing in high-risk cases, and lo and behold, she worked at three hospitals in Minnesota, and at OHSU, before transferring to our local hospital. All that and five star ratings from her patients? Ok. We're in pretty good hands. :) We had an appointment with a geneticist for today, that I had been seriously considering canceling for a number of good reasons, but we decided to go anyway and give it a chance, mostly because Dr Feltovich had recommended it so highly, and had promised to try to stop in and see us during the visit. She has taken a special interest in our case and has really invested herself into researching it, making us feel like we are much more than a file. So we went to the geneticist.
It turned out the visit led to our best news yet. We confirmed to our delight that
A) their theory is that our baby probably has the most simple, operable type of EA, and that she likely
does in fact have a stomach that is invisible to the ultrasound. Although there is still a small chance that she could have one of the rarest forms of the defect, again, odds are greatly in our favor. An MRI will not help them to see any better, and unfortunately we will still have to wait for the baby's birth to know any of these details for certain. There are a series of frequently-accompanying defects that will be checked for carefully at birth, (the doctors often refer to this group of defects by the acronym "VACTERL") for which we are still on guard, but again, virtually all of them are fairly easily operable and would allow her to ultimately lead a normal life. With each "yes" on that checklist of accompanying defects, our likelihood of also having Down Syndrome goes way up, but at this point it is still looking like this may be an isolated problem, and that is their current belief. The news is especially wonderful because the prognosis--survival rate--and the chances of her leading a normal life, is excellent.
B) Dr Feltovich believes strongly that Primary Children's is an even better place for the surgery than U of Minn, in fact she transferred to our hospital because she felt it is better, likewise than OHSU, and that the online publication simply helps with publicity of the U of Minn program. She said that she often does transfer patients to out-of-state hospitals based on the situation, and in this case she feels that we are in the best hands here in SLC.
C) Dr F told us that my systems are taking care of the fetus' fluid levels, clearing up a misconception we had developed about the way her circulation was working. In other words, yes, the stomach could very probably be there, just invisible!
D) Bottom line, we are headed to a nearly normal delivery in most respects aside from being a planned induction in SLC at the University Hospital, with the sky bridge to Primary ready to whisk her over to surgery. We will likely even be able to have a midwife manage our care at the delivery, and the team of midwives that deliver up there are the instructors who trained the ones I see here in Orem. Following surgery, little Audrey will need to stay in the NICU at that beautiful, caring hospital (I am not exaggerating-- for compassionate, expert care, Primary Children's is unusually famous, and the place is chock full of gorgeous and whimsical art) for somewhere around a month depending on how the surgery takes, and of course depending whether she needs additional surgeries. During that time, I would be invited to stay at the Ronald McDonald house right near the hospital if that is what works best for our family. So....... hope against hope, we could be taking home a healthy baby some time in early June.
- Apr 4, 2011-- Updates from our first visits to the Primary Hospital Surgeons and high risk OB at University Hospital in Salt Lake City last week:
- They found her stomach on the ultrasound! Normal place, normal size except not stretched from use like a normal stomach at this stage, because it isn't being used to process any amniotic fluid. The small amount of fluid they saw (and that made it visible) she believed was probably simply gastric juices now being generated by her own glands. The find further strengthened their theory of EA/TEF (Esophageal Atresia/Tracheo-Esophageal Fistula). She has also nearly reached five pounds, putting her well in the range of high survival rate for surgery! If she were to keep up this growth rate and continue to full term (not likely since my last was born at 38.5 weeks) she would be a whopping 11 pounds. None of my babies have topped 9, so.... all things being normal, we would probably have had this baby by May 14. They still want to induce us so that everyone is ready and waiting for us, and apparently the excess fluid (and pressure inside my uterus) is increasing rapidly, which puts us at higher risk of pre-term rupture, hemorrhage, and other unpleasantness. I am still waiting for an induction date from the OB, but was told they are tentatively putting it at Monday, May 9, which is the day after Justin's mom's birthday and coincidentally the day after Mother's Day as well! Seeing the ascetic delivery rooms with the pass-through window for the baby to the NICU, and feeling the immense reality of it all was kind of hard for me as I reflected on it later, particularly coming to terms with the news that I would not be allowed to hold my baby-- not even in the NICU, for weeks or months after she is born. But a friend had been through it recently with her preemie twins, and it helped a lot to hear about her experience. Help and love from friends, family and strangers has been making a huge difference.
- About the surgery. To our surprise, the surgeon told us that we still have a strong chance of being in that 87% or whatever, who have the EA/TEF type C, apparently because fluid doesn't pass readily from the lungs into the stomach in utero. It was his belief that we are probably looking at this Type C surgery rather than the pure EA (type A) we were told earlier, but either type is still possible. If he is correct and we have the most common type, it does mean there are tubes connecting her lungs and esophagus. (here is the link again to that diagram that explains things: http://www1.umn.edu/eatef/whatis.html) Kind of scary to look at, and it does require surgery within the first 24-48 hours plus a breathing tube and IV feedings from birth until then, however, the good news is that it is a common surgery and the unwanted connecting tubes provide ready tissue for connecting the esophagus correctly, vastly shortening recover times over the Pure EA. Of course complications and problems are still possible, but the BEST case scenario would have us bringing her home within about five weeks of birth. One local mom I've met on Facebook had this type in her baby, and he was in the NICU for about 110 days (but I just found out that he was also 11 wks early and under 2 pounds!), so it's certainly not a promise that we can have her home as early as the doctor said, but it is exciting to hope for! If we DO have the pure EA, with no connecting tubes and an esophagus that simply doesn't connect all the way down, the size of the gap will determine the date of surgery. The smaller the gap, the sooner the surgery to connect the two ends of the esophagus. The longer it is, the harder to connect and more time is needed. It will mean a GI/feeding tube will be surgically implanted directly into her stomach and we will have to wait weeks, months, or even a year or more for her esophagus to grow before they will do the surgery. I have mixed feelings about that approach based on some of the things I've read, but we will cross that bridge when we come to it. For now, we are focusing on getting prepared as best we can over the next few weeks, knowing that she could come any day but feeling in our hearts that she is on board with the plan in place. She continues to dance vigorously in her XL Jacuzzi, responds now to voices and craves Cadbury chocolate. Her sister and brothers spontaneously hug my belly and give her kisses. As my mother in law put it, each day Audrey is still inside and growing is like a little triumph.
- April 4, part 2. :)My friend Ranee asked for a simple summary, and I'm sorry if what I have written earlier is a little hard to process! We have been inundated with medical terms for so long now that I get a little ahead of myself! Here is her question and the answer I wrote:
Q: She has a stomach? Does this mean she doesn't need the surgery? Or she has some stomach, so the surgery will be less complicated?
A: Even though she has a stomach, yes, her esophagus (food tube leading from her mouth down to the stomach) is closed off. Her stomach does not receive anything that she swallows because the tube simply ends, it is called a "blind pouch". There is a gap, a completely empty space where there is no esophagus, called an "atresia", and then it starts up again, we don't know how much farther down. The lower half of the esophagus, that *does* connect to the stomach, is either connected to her lungs via an unnatural side tube called a "fistula", or ending in a similar "blind pouch" pointing upward toward the upper piece. There is no way to know which way it is, or how large the gap is separating the two sections, until after she is born, when special x-rays will be performed within minutes of birth. Surgery must be done very quickly after birth if the stomach is connected to the windpipe, because stomach acid will come up into her lungs and burn them and potentially suffocate her, plus her stomach will have no way to get food, only air. She will need a feeding tube surgically implanted into her stomach, near her belly button, for as long as it takes for the two ends of her own food pipe to grow closer together, potentially as much as two years depending on how far apart they are, because connecting the two ends is somewhat dangerous and fragile. She will always have some trouble swallowing, post-surgical scarring can cause the food pipe to close up again and require additional surgeries throughout toddlerhood, and reflux can be a lifelong problem, but considering that every child born with this condition prior to 1945 used to perish, we are counting our blessings!
