"Gastroschisis is an easy fix”

“If you had to pick a birth defect, gastroschisis would be the one.”

“Once we close the baby up and you go home, you have nothing else to worry about.”

These were the responses from practitioners seven years ago when at 12 weeks we found out our son, Avery would be born with gastroschisis. Now, seven years later, our foundation gets 1-2 families a week getting this same input from their physician. And it does not end up being true.

Gastroschisis is one of the more visceral birth defects in the world. The defect is a hole in the abdominal wall that can range in size that causes the intestines, and sometimes other organs to protrude out of the body. The medical community does not know what causes the abdominal wall to not close down completely around the umbilical cord as it should in normal development. The survival rate is 80-90%, with about 40% experiencing long-term complications across a spectrum.

The trends are on the upswing too- state side 1990 it was 1 in 10,000. Then in 2011 it was 1 in 2229. Earlier this year the CDC reported that in 14 states, there was a 30% increase in the disease across all demographics. However, gastroschisis is a rare disease. A rare disease is defined as a disease that affects less than 200,000 people at one time. The CDC reports that 1,871 babies are affected by gastroschisis a year. Which frustrates research- trends are up, but the sample sizes to study are very small.

This might sound like a lot of numbers to you, but they really mean everything to our population. When you are one of 7,000 rare diseases it means that the knowledge (much less correct pronunciation) on gastroschisis is not going to be pervasive. Initially, it means our expecting parents will have to travel cities away, some even states away for their child’s initial treatment at birth. That stay could be 3 weeks (on average about 6-8) or 740+ days. Being a rare disease also means our parents cannot walk into their local Urgent Care with a child who has a compacted bowel, fever or vomiting, and find a practitioner that has had experience treating a gastroschisis affected gut (and believe me, that does matter.)  For any other child, vomiting and fever would normally mean a bug, for our children it could mean intussusception, volvulus, or obstruction. Things most doctors rarely see. 

Simply put, gastroschisis means there are no road maps.

To test this "easy fix" idea, Avery’s Angels recently asked some of it’s 12,000 social media followers to submit a simple sample: 1) Baby’s Name 2) Date of birth 3) Date until first hold 3) Days in the NICU 4) Number of Surgeries 5) Any long term complications. We have had over 200 responses and no 2 are alike. Some families went 2-3 weeks before first holding their child, while others were in the unit and discharged in that time. Some babies had little complications after discharge, some have spent upwards of 15 years in and out of the hospital. Out of the 200 submissions, no 2 were the same. 

And, as one parent put it, none of the experiences were “easy.”

With this in mind, that I could not speak about one experience for all, I asked our families to weigh into this piece. What would you want the world to know? What would you want an expecting family to know?

The overwhelming consensus was this:
Expect anything. Outcomes cannot be promised. This defect is not an "easy fix" no matter what you get handed. You never get to “leave it behind,” you’ll watch every poop, fever and vomit with caution, and with good reason. Don’t consult Dr. Facebook, know where your knowledgeable physician is, find that person and build that relationship. Ask questions. If you have to, ask the same question over and over.

You’ll be terrified at some points, and that is OK. You find out that you have a strength in you that you never knew you were capable of, and sometimes your child will lead you through that as they endure their trial. When you need to, seek support from the gastroschisis community. Even though every journey is different, there is commonality in the journey still, and it helps to know you’re not alone.  

The “easy” part of gastroschisis is the love that comes, unconditionally, for a tiny baby born inside out, that teaches you how to love from the inside out. There is an amazing and fiercely loyal tribe of gastroschisis families and survivors that have come together over the years, to support one another, to help others get to the right people who can help. These are the parts where good starts to shine through. When you cannot have a road map as to where you are going, it helps to have a tribe to walk with you along the way.

We have a lot to accomplish, and an uphill climb. Gastroschisis is a rare disease, meaning the science behind understanding the disease is going to take a lot of time and effort. It means that the skill set to treat this is going to be rare too. I am not worried about it though, because the families I get to serve, the patients I get to work with- survivors and angels, are relentless. The push to make up the gaps in understanding comes with a tenacity that cannot be paralleled. Some of our moms and dads even start up a new career in medicine as nurses, CNA’s, doctors and paramedics. Even more of them take up the charge to promote awareness and research. Nearly all of them turn around to give a helping hand to others struggling through. No, no one would chose this defect. But anyone would chose this tribe.

Written by:
Meghan Hall
CEO/Founder Avery's Angels ® Gastroschisis Foundation 
​www.averysangels.org

Jennifer Labriola used to envy those whose life was a neat little package. Effortlessly their life was textbook, fairytale normal. How it’s supposed to be or what they thought it should be.

Jennifer’s journey through life has been overcoming hurdles – she is a reporter at heart and research has always been in her wheelhouse. When she couldn’t get pregnant, she researched infertility. When she found her insurance wouldn’t pay for it, she researched and questioned nurses about how she could save. Finally, after eight years, they put in two embryos in May of 2014, with the cautious, “Two? Maybe they should only do one” questioning of her husband, Carlo.

After years of negative pregnancy tests, she finally was pregnant, and not with one baby, but an overachieving two babies (both girls). Finally, she thought, she could start up the normal part of life, with a normal pregnancy, right?

At 24 weeks during an ultrasound the doctor told her they had a problem. She chuckled, thinking he was joking, but no, her “baby b” had intermittent absent blood flow. She was growing very slow, while baby A was doing fine. She struggled for weeks, praying to get to at least 28 weeks. The doctor kept a close eye on the babies and each time she arrived to her appointments he would joke if she’d “packed her bags” for the hospital. “No, not yet,” she’d say with a smile. Positivity was what she clung to during these stressful times.

Necrotizing Enterocolitis is common among ill or premature infants that occurs when bacteria invades the intestine. This bacteria causes an infection and inflammation which ultimately destroys the bowel or intestine. “NEC affects one in 2,000 to 4,000 births” which ends up being “between 1 and 5% of neonatal intensive care unit admissions” [1].

A variety of complications can arise unexpectedly during pregnancy, causing many women to have a very difficult experience.  This sometimes can be due to the personal health factors of mother, which when left unnoticed, lead to problems as the pregnancy progresses.  The severity and type of challenges can truly run the gauntlet for women, from the onset of gestational diabetes, to premature labor and miscarriage, to severe and persistent nausea and vomiting (hyperemesis gravidarum).[i]  One of the most critical and life-threatening problems that can occur is preeclampsia, and its severe variant HELLP syndrome, which are characterized by the sudden onset of high blood pressure and protein in the urine. 

Historically, preeclampsia has always affected a certain portion of pregnant women.  From the time of Hippocrates up until the 20th century, physicians were not only baffled by how these symptoms developed, but in how to treat them successfully.  The most common methods were bloodletting, elimination of toxins, rest and purging.  These treatments were prescribed for millennia, and did not change all that much until doctors started to understand the pathophysiological changes that are the symptoms of this condition; notably the increase in blood pressure and presence of protein in the urine.  Due to their research from the second half of the 20th century up until today, physicians have learned how to better treat the symptoms, but still cannot prevent the disorder’s occurrence.[ii]
Unfortunately it is still mostly unknown how and why preeclampsia develops in pregnant women, however, doctors believe it is related to the poor development of blood vessels in the placenta.  This condition affects between 5-8% of all pregnancies in the United States, and only through proper prenatal care and by watching for warning signs can it be caught early and managed.[iii] 

A more acute form of preeclampsia is HELLP syndrome, (hemolysis, elevated liver enzymes, low platelet count).  The symptoms of HELLP are similar to that of preeclampsia, high blood pressure and protein in the urine, but can also involve chest pain, pain when breathing, edema and uncomfortable indigestion.  This particular disorder is very hard to diagnose, as its symptoms can sometimes be mistaken for the flu.  If is not caught in time, it can lead to liver rupture or stroke, and put the life of the mother and child at risk.  Of the 5-8% of U.S. women who will develop preeclampsia, roughly 15% of those women will develop indications of HELLP syndrome.[iv]

Since it is still unknown how these symptoms arise, it is important for physicians to consistently run blood tests and urine samples for any woman experiencing any signs of HELLP during her third trimester.  Treatment options for HELLP are weighed against the gestation of the pregnancy, as the best solution for mom and baby is a delivery.  Since physicians do not know precisely how and why these symptoms progess during pregnancy, there can be no way to completely prevent it.  They recommend monitoring diet and exercise, and regular prenatal visits to observe blood pressure.[v]  By ensuring that women are informed and aware of any changes however slight to their blood pressure, they can seek help when severe warning signs develop such as violent pains and severe nausea.  By staying attentive to their bodies, women who may be experiencing the first signs of preeclampsia or HELLP will greatly increase their chances of survival and safe delivery of their baby.

By Elizabeth Payne
 
Leaving the NICU with your baby is exciting and nerve wracking all at the same time. Although this is a time to celebrate- your baby is healthy enough to go home with you!- many parents are scared by the fact that they are moving baby from an environment where they are constantly surrounded by doctors and nurses to one where they usually have only two people watching them. Your baby’s care team will help you make the transition from hospital to home, but the following guide will give you a good general idea of what to expect, as well as suggestions to help ease you into the transition.
 
Preparing to Go Home 
If your baby was born prematurely, there are several requirements they must meet to be eligible to go home; they must be gaining weight steadily, be able to maintain their body temperature, and no longer require tube feedings; some wards will also require a minimum weight. Most children reach these milestones around their original due date, but this is not a hard and fast rule. Each baby varies and your particular child may be discharged up to a month in advance of this date, or several weeks after.

Prior to discharge, your medical care team will come up with a care plan for you and your child, which will detail the special needs your child may have and how to help with them. They will also help you determine your child’s nutritional needs, sleep, eating and medicine schedules and everything else you need to know. Remember, if you’re confused about something or want to know more about it, ask.
If your baby requires the use of medical devices at home, the medical team will train you in the use of them before you go home. You may also be trained in infant CPR if your baby has certain breathing problems; if this is necessary, your baby should always have someone trained in infant CPR with them. This means that all caretakers; you, you partner, aunts, uncles, grandparents, family friends, or anyone else who will be alone with the baby for any period of time, should be trained in how and when to perform infant CPR. The medical team will also tell you if you should be on the lookout for any particular behaviors and to react to the. Remember that you can call your doctor any time after discharge if you have any additional questions.

Before leaving the hospital, you should pick a pediatrician for your child and meet with them. It is good to establish a relationship with your child’s doctor early on and inform them of any special care they may require. The first appointment with the pediatrician should take place within a few days of discharge.

Before leaving, ensure that you have all the paperwork pertaining to your baby’s health in order, preferably in its own file; medication sheets, test results, personal notes, discharge summaries, and names and numbers of doctors and specialists. Keeping this all together now will save you later when you need it.

At the turn of the century, many hospitals in both America and Europe did not allow technology such as incubators to be used within their walls. Couney, however, recognized the potential of incubators for helping premature babies. Dr. Couney offered this type of treatment for premature infants free of charge; it was paid for through admissions. Dr. Couney displayed the babies in a sideshow at Coney Island starting in 1903, and charged onlookers twenty-five cents apiece to come in and view the babies and the technology keeping them alive. Similar sideshows were set up in Europe as parts of fairs and expositions, including the 1933 New York World’s Fair and the 1939 Chicago World’s Fair. Although the practice of displaying premature infants for money is certainly morally questionable, it helped pave the way for modern neonatal intensive care. Dr. Couney died in 1950, shortly after American hospitals began to use incubators to care for premature babies.
​

If you’re reading this blog, chances are your child was born prematurely. This article specifically deals with preemies that were not only born prematurely, but also continue to receive their nutrition by means of a feeding tube.
 
As a first message I would like to say that it is neither your fault that your child has a feeding tube nor has anything gone wrong in the treatment and taking care of your baby. However, the focus and attention of all the care offered has not been specifically directed at transitioning to oral feeds. We will be talking about why this would be an important step if the medical necessity for the tube has ceased to exist, how this can and should be organized, how you can help your infant catch up with it’s delayed or suppressed eating development and also how it can catch up to its current general developmental level without any medical risk.
 
When preterm babies should learn to eat without a feeding tube
Any infant born prematurely between the 23rd and 32nd gestational weeks should be discharged home from the neonatal intensive care unit (NICU) or the aftercare unit as an orally eating baby unless major ongoing medical complications require the feeding tube to stay in place for the time being. For preemies whose tube is no longer necessary to be able to successfully transition from tube to oral feeding, parents (under the guidance of their medical team) and the medical team themself will need to encourage oral function already on a non-nutritive level long before the infant is ready to accept any substantial oral feeding. If all goes well the whole transitioning process to full oral feeding should be completed at around the 34th gestational week. At this point the baby will probably weigh around 4.5-5.5 lbs. Latest, the preemie should be eating by the time of the formerly calculated term birthday. Medical studies have clearly shown that there are significant benefits to oral stimulation by finger or pacifier in preterm babies and that it is desirable to achieve oral feeding as soon as possible.
 
Which doctors are capable of releasing preterm babies without a feeding tube
As for instance in all institutions focused around the issues of self-regulation and sensitive individualized care, as is the case in most clinical centers following the guidelines and the recommendations of the NIDCAP® (neonatal individual developmental care assessment program), the ambition is explicitly to not discharge any infants - including preemies - on tube feeds. This goal is realistic and can be met by helping all preemies learn to suck and swallow in a self-regulated and coordinated manner so that they learn how the entire process works. Then, step by step and these children are guided towards being fully self sustaining by mouth and only then will the tube be removed.
 
Why releasing children without a feeding tube matters - The negative side effects of tube feeding
The work it takes by parents/doctors to help their child/little patient make this transition is well worth it, as oral fed infants suffer much less from the well known troubling negative side effects of feeding tubes.
 
In a recent study observing the largest population of tube-fed infants ever documented, the parents of 425 tube-fed infants (with both nasogastric (NG) and Percutaneous endoscopic gastrostomy (PEG) tubes) were asked to document their children’s reactions to their feeding tube. Nearly all of these children had been tube-fed since birth. The study showed that over 56% of these tube-fed children fight with gagging and retching episodes daily and 50% vomit frequently. As expected, depending on which tube the children had, their side effects varied. What’s astonishing though is that both tubes (nasogastric (NG) and percutaneous gastrostomy (PEG) tube) come with significant negative side effects and that no significant correlations could be found between age, sex, underlying medical diagnoses, type of feeding tube, feeding schedules (bolus or continuous), and parental and child’s behavior regarding the feeding situation and duration of tube feeding. This means that these side effects are endemic to the tube and unless the tube is removed, they will remain!
 
This is a serious problem, especially since f.e. frequent vomiting can lead to malnutrition. Recent statistics in this field show that more than 33% of all tube fed children aged 0-12 months are malnourished as defined by the criteria of the World Health Organization (WHO).
 
The fact of avoiding these typical tube related symptoms by early tube weaning in itself also sets lots of developmental energy free which the infant will then be able to invest into its general and motor development.
 
Now, what are some of the reasons why transitioning to oral feeds can be difficult or seem nearly impossible for your baby?
 
As a medical doctor, I’ve spent more than 30 years of my professional career working in and with NICU’s around the world. Examining and observing thousands of pre-term babies and their first attempts at eating, these are some of the most common challenges I’ve seen them struggle with:

1. The development of the intrauterine sucking-swallowing coordination process is interrupted by the premature birth
2. The lungs are immature and not yet equipped to breathe without mechanical and/or medical support
3. The ability to thermoregulate needs to be taken care of first, so there’s no space to take care of feeding
4. The dominance of stabilizing safe breathing patterns and other airway problems interfere with the emerging swallow coordination
5. The premature born infant might be too sick and fragile to manage breathing and eating challenges at the same time
6. Repeated aversive intraoral actions (intubation, repeated suctions etc.) can be traumatic for the baby
7. Increased physiological reflux due to very low muscular tone can lead to an oral aversion
8. Additional medical complications like sepsis or surgeries make tube weaning impossible
9. Lacking aftercare structures in the hospital, no tube management-maintenance team, no exit strategy

 
Guidelines for what to do with a tube-fed preemie
Given that all of these challenges exist and are present in one child or another, it is very hard to give general recommendations. However, there are some guidelines which make sense for almost any situation where a preemie baby has been born and is fed with a feeding tube.
 
Elements to follow:

• If your baby could not be discharged from the NICU as an orally drinking infant, please ask your team for the reasons and ask for clearly defined nutritional goals to be met before embarking on a tube weaning trial at home together with the medical team of your choice.
• As shown above, enteral nutrition support does not guarantee sufficient growth, so inquire with your medical team whether malnourishment is present and if the tube has been present for some months, how they plan on leading your child to a healthy state
• If your child is not malnourished, ask your medical team why the feeding tube is still in and what elements are needed for it to be removed. It is the medical teams’ responsibility to provide you with a clear exit strategy unless underlying medical conditions make the feeding tube absolutely necessary (f.e. if the child has no swallow reflex).
• If you want to tube wean your child, a developmentally adjusted and highly individualized approach is necessary for each child, please ask your nurse and medical staff how they feel about the issue of discontinuation of tube feeds and look for the most specialized place you can find. Tube weaning is not an easy operation that any hospital can do and you really want to make sure you’re getting the best support you can.
• Please don’t ever try to force feed your child before, during or after tube weaning (even when someone tells you to), the literature has clearly found that it is harmful at all times.

 
Find out if your medical team specifically wishes the tube feeding to be continued or gives your baby permission to transition to oral feeding. If you receive permission, start thinking about which medical organization you want to do the tube weaning with. Please, from the bottom of my heart, don’t try this alone on your own, it is potentially life-threatening for your child if you don’t know what you’re doing.
 
Since you’re not the first to go through this, I’ve asked a mother of a formerly tube-fed preemie to share with me how she went about choosing a medical partner for tube weaning her preemie. You can find her guide here.
 
Having helped wean hundreds of preemies from their feeding tube with my multi-disciplinary team at NoTube.com, these are some of the lessons I’ve learnt. Preemies are fighters and extremely tough. They’ve gone through so much to get to where they are and they will continue fighting! When challenged to learn how to eat orally by an experienced medical team advising parents what to do, preemies are well able to transit to oral feeding from and be fully orally sustaining by the 34th week or, in some cases, slightly earlier. During the tube weaning phase, a period of 2-4 weeks of slowed down weight development is normal and must be accepted. But it’s important to know that the task of tube weaning in prematurely born infants can only be achieved by intensive cooperation and trust between the nurses, doctors and parents!
 
I truly hope this article was helpful to you and would be glad to answer any comments here or to get in touch with me directly, just send me a message here!

Written by Sarah King, President for Project Sweet Peas