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Interviewer: Dr. Stephen Jay Fenton is a pediatric surgeon and also an expert in congenital diaphragmatic hernia. So, most of the time, it's diagnosed before the woman has given birth. So, this diagnosis comes in, what are some considerations that the woman, the mother, the family are going to have to do at this point?

Dr. Fenton: Once this woman has diagnosis they need to be referred to a maternal fetal medicine physician, so someone who deals with high risk pregnancies. And one of the things associated with that is that they need to be followed closely during their pregnancy. One is to ensure the safe delivery of the child and then also in preparation as far as what will happen once the child is born.

I think it's important for the mother to know that this is something that will require treatment for a long time after the child is born. So I typically would say three, four, to six months afterwards, that child will need to be in hospital that takes care of these types of kids. And so sometimes it might require relocation or making sure they have a support system away from their house. For example, if they live quite a bit away from the children's hospital that deals with this specialty, they may need to start thinking about the Ronald McDonald House or finding some other place that they can live.

Interviewer: Wow, so this diagnosis is a serious thing.

Dr. Fenton: Yeah, I mean over the past 10 to 20 years the survival rate has improved, but it still is one of those diseases that takes a lot as far as to treat the child once they're born and then afterwards to help the child continue to grow.

Interviewer: What's the conversation that you have with these families? Take me through that conversation, some of their concerns, their questions, the things that you tell them that are important to consider.

Dr. Fenton: So, after getting past the basic questions of what is a diaphragmatic hernia and how is it treated, the things that I really focus on are we need to find out a little bit more about the child. So, one of the things that we'll get when they come to our office is what we call predictive or prognostic predictors.

So, a lot of times they will have already undergone ultrasounds, several ultrasounds, to look further at the child. One of which is of the heart, so a fetal echocardiogram. We want to know whether the child has a congenital heart disease as well because that does complicate things when the child has not only a diaphragmatic hernia, but has congenital heart disease as well. They are at a much higher risk of not surviving.

And it also limits some of the things we can do, especially as far as the ECMO or the heart lung bypass, if the child has a structural heart defect we can't put them on ECMO. So, the families need to know that.

Additionally we want to know what their chances of going on ECMO are and what their survival ability is. So, we look at these different things. One is the lung to head ratio, which is obtained by the ultrasound. Then the other is the total lung volume which can be obtained by the MRI. And those, depending on what the lungs look like, so the ratio of the lungs to the heads and/or the observe to expect of total lung volumes.

We can give parents the percentage of whether their child is going to require ECMO support and/or what their survivability is. And so the parents, when I talk to them, I almost talk to them much more about the support that the child will receive before and after repair, than the repair itself. Because the repair is really a step and only one of many steps in the care of the kid once he's born.

Interviewer: Wow. So, how do you help parents take all this information that you just talked about, head-lung ratios, and how do you make them make sense of what they should do at that point?

Dr. Fenton: Well, I think it's hard, especially for the initial visit, because a lot of information is given and so we will talk to them upfront and then we'll see them once they come into the hospital again to give birth. And talk to them once the child is born as well, and we can gauge. Obviously all of these are predictive.

They're not definitive and so it's after the child is born that we see how they're doing, that we kind of give them a little bit more of a definitive plan as to whether we feel like the child's going to need ECMO or whether we feel like when the child can be repaired. And some of the consequences as far as neurologic cardiac long-term pulmonary support. A lot of times we can't necessarily give them that until we are in the midst of taking care of the child.

Interviewer: What options do parents have at this point?

Dr. Fenton: I honestly refer my patients out to websites as well. "I feel like I've given you a lot of information. We want you to know more." There are support groups, CHERUBS is one, as far as the parents can Google. I also had them look at WebMD. I've actually found most parents to be very well informed when they come in even to the prenatal interview. So the very first kind of clinic visit that we have, I found that most parents who come in have already read up quite a bit about it.

Interviewer: Yeah, because they were told about the diagnosis and they're very curious and want to know.

Dr. Fenton: Exactly. And I think that helps. I mean having the parents be informed already about what it is and having specific questions as far as okay, so, tell me about ECMO. Tell me about reflux, and tell me about when you're going to do the repair and what the repair options are. It helps with the conversation already.

Interviewer Do some parents at this point after they get this information choose not to continue the pregnancy if they think... if you think I should say, it's going to be really bad?

Dr. Fenton: Some do. Yeah. I mean some will discuss options of whether to be able to continue the pregnancy or not. Obviously depending on the gestational age of the child, that might not be an option anymore. More often what is talked about is palliative care. So, meaning how aggressive to treat the child afterwards and how much should be pursued.

I would tell you that most parents say, "I want everything done. We'll go forward and certainly want to help the child, after they're born in whatever way is possible." But there are some times where we can't do that. And so I think it's important to have that discussion before, of what are the limits and the possibility of needing to do either palliation immediately after the child is born. And/or when have we exhausted all medical means to help this child.

Interviewer: So, after a diagnosis of CDH, can a child live a normal life after you've done what you needed to do to rehabilitate?

Dr. Fenton: Yes, I think that's the key. We've done what we needed to do rehabilitate or to treat the child, and obviously there is a pretty high mortality associated with CDH now. It has improved greatly over the past two decades. But it's still a serious disorder. There are some kids that have lungs that are so small and so underdeveloped that we're not able to treat those.

Now, the children that we are able to treat, they can go on and live a very productive lives. Some of them may have some challenges secondary to the treatment themselves. They might need oxygen support. They might not be able to exert themselves as much as a consequence of treating their underdeveloped lungs. But most of them can go on and live great lives even if they require some support.

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Interviewer: Josh Hensley was told not once but twice in his life that his newborn child has a birth defect called congenital diaphragmatic hernia, also referred as CDH. And, sadly, it also claimed both their lives. Since then, he's brought awareness to this defect to help other parents with children with the same disease understand more a little bit about it. Josh, thank you for telling your story today.

Josh: You're welcome. My pleasure to be here.

Interviewer: You had a lot of frustration, from what I understand, during this process. Tell me a little bit about that. Just lack of support, lack of information, lack of knowledge.

Josh: Yeah. So if you're not dealing with pediatric surgeons or specialists, neonatologists, people who deal in more severe cases, nobody knows. Our pediatrician did a really good job of informing himself so he could provide us good care, but there were multiple times we went to the doctor's office and he wasn't there. We saw another doctor and I knew volumes more about our daughter's condition and the side effects of her condition than the doctor did. And it's not uncommon. I've heard from a lot of parents. I had one parent tell me, "Oh, the doctor went back and he grabbed his medical book and opened it and read to us out of his medical journal the description of the disease.î

Interviewer: So, we talk about cystic fibrosis, every doctor knows about that.

Josh: So does Joe Everybody.

Interviewer: But this is just as common, one in 3000 children, but yet there's so little knowledge about it. Why is that?

Josh: I think part of the reason, for the most part, once our kids go home from the hospital and are considered what you would say is stable, you can look at a kid who has CDH and never know that there was anything wrong with them because the long-lasting effects are on the inside. There's no real external manifestation that they had CDH. If you didn't see their scars, you wouldn't know.

Interviewer: How do you bring awareness to the issue given the fact that it is not an externally manifesting condition?

Josh: One of the campaigns that we do is called Save the Cherubs. And so we have kids who are survivors. We buy wings and have them wear wings. Children who are non-survivors are just the wings and we have pictures at all kinds of landmarks throughout United States and throughout the world, really. Just saying, ìHere is a set of wings at the Eiffel Tower. Be aware.î It's a way to give an outward manifestation to an inward . . .

Interviewer: Gotcha. Yeah.

Josh: We do all kinds of events. We do a lot of social media campaigns. We do a lot of fundraisers. We go to Washington D.C and lobby with Congress to get awareness and funding. But it's really a mom and pop grassroots organization of just family members that volunteer their own time and their own travel expenses just because we understand each other better than anyone else could ever understand us.

Interviewer: How will that translate into money, do you think, the awareness? What's the strategy there?

Josh: So in meeting with congressional aids, they said the reason that cystic fibrosis gets $79 million a year from NIH is because 20 years ago cystic fibrosis parents were sitting in this chair in this office, talking to somebody just like me. And they kept coming back and they kept coming back and they kept coming back. And so that's what it takes is to continually make enough noise until you can't be ignored and everybody realizes, "Hey, this is a pretty serious event. I may not have known about I, but I do know about it now. And, yeah, this is probably something we should look into because that type of mortality rate, in my opinion, in this day and age, is unacceptable.î

Interviewer: What do you hope to get out of all your work? I know you've dedicated, like you said, a lot of your own personal time. This has become your mission, a lot of your own money. At the end of the day, what do you hope happens? What's the payoff?

Josh: The payoff is to let parents who get this diagnosis know that they're not alone, that they don't have to face it by themselves. They don't get a lot of support from the medical community; they don't get a lot of support from family members. Especially in my situation, if your child dies, even your parents, who are the most loving and caring people in the world, get to a point where they don't want to hear about it anymore.

Interviewer: It's tough.

Josh: And it's human nature, and I understand and it's not their fault, but there is a large group of us out there that get it. We understand. We'll never tell you to be quiet. We'll encourage you to talk about it. So the main thing, I just want people to know when they get this diagnosis that there is a large support network. That there is help, there is hope. There are people who will talk to you about it; there are people who will get out of their way to do what they can to support you. And, ultimately, I'd like to find some way to prevent this from happening because nobody should have to bury their child. And, ultimately, I'd like to have a 0% mortality rate with CDH.

Interviewer: What are some of the resources you'd recommend to those families?

Josh: I work for a charity called Cherubs. We've been around; we just celebrated our 20th anniversary. It was started by a mom whose son passed away at six and a half years of age due to complications of CDH. And we do conferences every year. We have fundraisers. That's the group I go into Washington D.C with to lobby. And we have 5000 families worldwide in our membership, and that's a small fraction of the actual CDH community. But it is the largest charity that does the most awareness activities, the most research funding and where you'll find the largest group of people who get what you're going through.

Jose: For that social support.

Josh: Yes.

Interviewer: Gotcha. Any final thoughts, anything I forgot to ask you or anything you feel compelled to say?

Josh: I've been dealing with the aftermath of CDH for eight years and a lot of people say, "Oh, eight years? Aren't you going to move on?" No, I won't move on because I will not give up. I will not stop. This is my life calling and I will do whatever I can because I feel not only do I owe it to my daughters, who both passed away, I owe it to every child

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Interviewer: Research that gives us a new understanding of common yet relatively unknown birth defect, congenital diaphragmatic hernia.
Examining the latest research and telling you about the latest breakthroughs, The Science and Research show is on The Scope.
I'm talking with Dr. Gabrielle Kardon, Associate Professor in Human Genetics at the University of Utah. She's just published research in the journal Nature Genetics that gives us a new perspective into the causes of congenital diaphragmatic hernia or CDH. Dr. Kardon, I had not heard of CDH before can explain what that is?

Dr. Kardon: Most people are familiar with hernias as inguinal hernias and so in an inguinal hernia, you have a weakness in your abdominal wall and your guts basically protrude through your abdomen. And what you can think of CDH as an inguinal hernia in reverse. So instead of your guts going downwards they go upwards through to weakened diaphragm and up into the thoracic cavity and the big problem is if you have your liver and your guts into thoracic cavity, they will basically interfere with the growth of the lungs.

Interviewer: Before your research what did we know about how this birth defect happens?

Dr. Kardon: So I would say the majority of the information about CDH actually comes from human geneticist. They take blood samples from CDH patients and they look at the genetics and they look and see whether there are mutations in their genes or the regions of their chromosomes that are deleted. And so basically what we know is a whole lot of genes and quite a few chromosomal regions that are strongly correlated with the incidents of CDH. And the real problem has been that we have no idea how these mutations lead to CDH. And I think that's the problem that we were interested in addressing. How do we go from a mutation to developing a weakness in the diaphragm?

Interviewer: And that's part of why your research is so insightful because you came at it from a totally different approach than what's been done before?

Dr. Kardon: Right. So we just started by looking at how the diaphragm normally form and basically we looked at a lot of different kinds of mice where we could genetically label different components of the developing embryo to track where did the muscle cells come from, where does the connective tissue come from, where does the tendon come from and how they get linked up.

Interviewer: And that's part of your research too is understanding what happens normally and then understanding what happens in the context of CDH.

Dr. Kardon: Right.

Interviewer: So what do we know now about what happens normally and then what goes wrong?

Dr. Kardon: Basically the diaphragm you can think of as a ring of muscle cells and that inside the center of that ring the muscle cells are hooked up to tendons and surrounding each one of those muscle cells is a bunch of connective tissues or collagen. And that collagen is linking the muscle to the tendon and also the muscle to the bone.
And so normally we think of the connective tissue as basically providing structural support and holding the thing together, but basically playing a pretty passive role. And then the surprising thing that we found in development is that the connective tissue was the driving force for diaphragm development. It basically told all the other cells what to do.
And so we basically took our cue from the human genetics studies and we looked at basically one of the most prominent genes that has been identified as playing a role in CDH and this was a gene that's called GATA4. And what we used was some fancy tricks so we could knock out GATA4 and its function in particular cells.
And what we found that was really surprising is that GATA4 was essential in the connective tissue. Now when you got rid of GATA4 in the connective tissue you always got hernias and the hernias looked just like the patient hernias. And so we had weaknesses in the diaphragm. We had the liver herniating through the diaphragm and the mice had small lungs and just like the human patients most of those mice died at birth.

Interviewer: One thing that was amazing to me is that you got these hernias every time you did that experiment, which doesn't happen very often in science.

Dr. Kardon: Right. We have now looked at hundreds of these mice and every single time we knock out the gene in the connective tissue and I should point out not in the muscle. So in the connective tissue we have these hernias.

Interviewer: The way these hernias develop is actually little bit counterintuitive.

Dr. Kardon: Right, so there's just decades of data on hernias in patients and from that data, doctors had always suggested that hernias were holes in the diaphragm and that through these holes, the liver and the guts can herniate through. And what we found is that in the mice, where we can observe the formation of hernias from the very beginning, what we found is that there hernias are not initially holes in fact what they are, are regions of connective tissue but that have no muscle in them. And so they are not actually holes.
So the holes may form later as the liver keeps protruding through this region which is really weak and has no muscle but initially it doesn't start out as a hole. So that's completely counter with the dogma that is from the physicians and pediatric surgeons.

Interviewer: Now that you have all this basic information what can you do with that?

Dr. Kardon: So we know that the connective tissue is the problem and the other thing that was really surprisingly learned is that the defect is really early. So typically in humans a mother learns that her baby has CDH by an ultrasound at roughly 20 weeks. And this is quite late and in the mice, where they have a much shorter gestation time, we see herniation about two thirds of the way through gestation but when we look earlier we see that the defect is much, much, much earlier. In fact the defect would correspond to roughly between 40 and 60 days in utero in a human so it's much earlier.
But the idea is that we could actually go and test some potential therapies in our mouse embryos and see if we could rescue these mice, that we know will get hernias if we allow them to develop. And can we somehow intervene? So obviously clinical trials is a big deal and especially when you're talking about doing something potentially in utero. So you need to be able to try to test things in something other than a human. And the trick has been that we've never had basically a very good mouse model of CDH and so I think it's an excellent starting point that we haven't had before.

Interviewer: Interesting, informative, and all in the name of better health. This is The Scope Health Sciences Radio.

Interviewer: Congenital diaphragmatic hernia, what is it? What causes it and what can you do about it? We'll cover the basics of this terrible birth defect next on The Scope.

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Interviewer: Congenital diaphragmatic hernia, also known as CDH. You might not have ever heard of it but it's likely more common than you thought. It's estimated about 1 in 3,000 children are born with it, which puts it with diseases you've heard about like spina bifida, which is one in 1,000 or even cystic fibrosis, which is about the same, one in every 3,000. Dr. Stephen Jay Fenton, the pediatric surgeon is also an expert in congenital diaphragmatic hernia. Thanks for taking time to talk about this somewhat unknown disease. Is that a fair assessment?

Dr. Fenton: It's obviously well known to us. We take care of it often but I think maybe some of it is secondary to the survivability. I mean it isn't something where kids will live as long as some of the kids with cystic fibrosis. So there are not as many families out there that are dealing with these types of kids. There is about 40 percent to 50 percent mortality rate associated right off the bat with congenital diaphragmatic hernia.

So now the children that survive, most of them will go on and live normal lives as a kid but it's something that's dealt with in the neonatal period primarily and not later on in life and so that might bring a little less notoriety to it.

As far as cystic fibrosis there's a lot more kids although it's one in 3,000. There are a lot more kids with cystic fibrosis kind of walking around out there. Some of it may be who is the champion for it, whether there's celebrities that are champions for cystic fibrosis or whatnot. I mean I think that might play a part as well.

Interviewer: Yeah. So a pregnant woman is told her baby as CDH. What does that mean for the child?

Dr. Fenton: First of all, we should just kind of talk about what it is which is basically a hole in the diaphragm. And the diaphragm is the muscle between the abdomen and the chest. And what happens is this hole develops early in the development of the child and causes bowel or solid organs to herniate up into the chest.

When it does this it arrests the lung in an earlier stage of development. And so what ultimately happens is not a matter of the intestines or liver, let's say, being up into the chest but it's actually result of very hypoplastic or underdeveloped lungs as well as thickened pulmonary arteries. And that's really the big consequence of a CDH.

Interviewer: I see. It's not a physical hole you see though in the stomach. It's all internal, right?

Dr. Fenton: It's all internal. Yeah, you would never see it on the child. The only thing you really see on the child is that their belly looks really, really flat and it looks much flatter than normal because some of their abdominal contents were up in the chest.

Interviewer: So if I'm understanding correctly what happens is because of this membrane is not there, the organs move up and is that what stunts the growth of the lungs?

Dr. Fenton: Exactly.

Interviewer: There's just no space for them to grow.

Dr. Fenton: That's exactly right.

Interviewer: Is this something that can be detected before the woman gives birth?

Dr. Fenton: Oh, yes. Yeah. The great majority of these are detected prenatally, during the screening ultrasound let's say. So ultrasound is very good at detecting the herniation.

Interviewer: So give me an idea of the degrees then. How many children are born and it's not super serious. It's something that can be... or is it always super serious?

Dr. Fenton: Yeah. Very, very rarely. Every now and then I would say we get a child maybe one or two, every couple of years that come in and are great. Most kids though come in with a pretty big defect and because of the size of the defect they have very underdeveloped lungs and have something called pulmonary hypertension which is also a consequence of the underdevelopment of the lungs and they're sick.

They require ventilatory support so they need to be on a ventilator. They require medications sometimes to help with their blood pressure and how well their heart is working. And they also require medications to try and help open up the pulmonary arteries in order to reduce what we call pulmonary hypertension which is really something that we did as challenge immediately after birth.

Interviewer: As a surgeon then, what do you do to try to solve this problem?

Dr. Fenton: Well, the surgery is a major step but it's not the first step as far as these are concerned. Once the kids are born, the key is really to stabilize them from a medical standpoint. So we want to try and help them breath, but we want to do it in a way that won't cause long term damage to the lungs. So we want to kind of do this gentle ventilation if possible and sometimes that can be very difficult because they require quite a bit of support.

We also want to make sure that we're supporting them from a cardiac standpoint. So we need to make sure that their heart is working well, that their blood pressure is normal. And then we need to work them up for any further anomalies. And then once they've stabilized their pulmonary hypertension is under control, we feel like they've been stable for at least 24 hours then we repair them. And this does require surgery, so we do make an incision in the abdomen and we go in and we go find the hole and there's really kind of three options that we can do to fix it.

So one is the hole really isn't that big and we're able to bring the two edges together without tension. When we can do that, then we just close it what we say primarily. But most of the time the holes are bigger than that and we can't close it without tension. So in that case we can either put a synthetic patch in, something that has called it a dual mesh. It has cortex on it so it protects the lung on one side and kind of allows tissue to grow into it on the other side. And that will allow us to close the hole without tension.

One of the things that we do here at Primary's is what we call a muscle flap. The abdominal is made of three muscles to the side and we actually take the internal-most muscle and rotate it inward and sew it in. So it's what we call a biologic fix, meaning that it's actually part of the baby that is helping repair the hole. And we like that because we found that it reduces the risk of it coming back. So reduces the risk of recurrence and then it also grows with the child.

Interviewer: Okay. So after the repair is done, the organs are back where they belong. What's the recovery process at that point?

Dr. Fenton: So it's still quite a bit. Now I usually tell parents they should plan on their child being in the hospital for three to four months.

Interviewer: Will the lungs ever fully develop properly?

Dr. Fenton: Yeah. Well the lungs actually continue to grow until the child is around eight years of age. So with support, and if we've been able to use gentle techniques to the point where the lungs aren't damaged, then they should be able to grow to the point where the child can live a pretty normal life. Now some of them are so severe that they will have some pulmonary consequences later on in life. They might still require some oxygen. They might not be able to exert themselves as much without being tired.

Now I think something that is important is that these kids are kids that should be followed for a long period of time. So they will still have some consequences of pulmonary hypertension. So it's not a child that after their repair and after they leave the hospital, we don't see. They're actually children that are still followed by specialists.

Interviewer: Do you have any thoughts for parents or families that found out that this is a birth defect that's in their family?

Dr. Fenton: I guess the biggest thing to say is that they can be well supported. Even though it's not known commonly throughout the community, it is something that we treat very often at Primary Children's Hospital. There are a lot of specialists that deal with this not just from the surgical standpoint but from the lung standpoint, from the neonatal standpoint, etcetera. And they can come and see these specialists and get the support, that information that they need that will help them not only through the difficult time prenatally but also through the time immediately after birth and then throughout the child.

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Dr. Jones: Gastroschisis, that's a big long word that's scary and maybe you've never heard of it, but it's a condition that is a birth defect that's becoming increasingly common. One in 400 women under the age of 20 will have a baby with gastroschisis. So what is it? When do you find out about it? What can you expect in the first days of your baby's life and where do you go for help?
This is Kirtly Jones from the Department of Obstetrics and Gynecology at University of Utah Health Care and this is The Scope.

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Dr. Jones: We're talking in The Scope studio today with Marcia Feldkamp. Dr. Feldkamp is a PhD researcher in the area of birth defects with a very special interest in gastroschisis. So Marcia, gastroschisis is a term that most people aren't very aware of. They think it's very rare. So let's talk about, again, what gastroschisis is and then we're going to talk about what the numbers used to be, what they are now, and what they are in young women, which is brand new information to me.

Dr. Feldkamp: Gastroschisis is an abnormality of the abdominal wall, so the belly. What happens, and we don't know exactly when it happens in the embryo, but it happens sometime during the first trimester, where the intestines are actually on the outside of the abdominal wall. Sometimes other organs are involved. The babies are born and it's a pretty . . .

Dr. Jones: Dramatic.

Dr. Feldkamp: . . . dramatic looking defect when the baby is born.

Dr. Jones: It's dramatic.

Dr. Feldkamp: If the mother is not prenatally diagnosed with this condition, it can be shocking to them because that bowel is sitting on the abdomen when it should be on the inside.
So in terms of the prevalence, we know that gastroschisis has increased over the last several decades. It used to be around 1 in 10,000 births. What we see nationally, it's around 1 in 2,200, 1 in 2,400 depending on the area of the United States. Some countries are not seeing an increase. Other countries are seeing the increase. The increase is primarily among young women.
So the largest number or greatest prevalence is in women who are under 20 years of age. The next age group is 20 to 24. Women who are over 25 years of age, the risk drops to a very low, low risk.

Dr. Jones: So in the under 20 year old, how common is it?

Dr. Feldkamp: In Utah, it's about 1 in 480 births.

Dr. Jones: Now, that makes it very common.

Dr. Feldkamp: Very common. Yes.

Dr. Jones: There are pictures on the web of babies with gastroschisis if you can Google that. When you first see it, is pretty shocking. Although, we usually have these babies transferred with this diagnosed to a center where we can get them delivered into the right hands. Can you talk a little bit about where people should be delivered in delivering these children who could get quite sick into the right hands?

Dr. Feldkamp: Yeah. So what you want if you're prenatally diagnosed is to be delivered in a center where you can quickly be transferred to a neonatal intensive care unit so that they can either do a procedure called the silo, which is where they allow the intestines to actually drop back into the abdominal cavity as necessary. What you don't want to do is close that abdominal wall defect quickly because they run into problems with breathing. It compresses the lungs.
So you want to get them into a NICU very quickly. That's where we've seen a very great improvement in terms of mortality. Mortality used to be 90 percent in the 1960s and 1970s. It's now under 10%. That's because of NICUs and the ability to do parenteral feedings.

Dr. Jones: Parenteral feeding, not parental. Parenteral.

Dr. Feldkamp: Parenteral feeding. So the two . . .

Dr. Jones: Let's talk about parenteral feeding, which is feeding through a tube, not through the breast.

Dr. Feldkamp: Thank you. So that has really improved the mortality. So babies don't die from this condition or the actual secondary effects of this condition.

Dr. Jones: Right. So the first thing is if it's diagnosed early and in fact, most women do get a 20-weeks scan, be prepared if you're the mom or somebody who knows the mom to be transported at a time so that the baby can be at or near a pediatric intensive care unit. The second thing is the baby is going to have to stay in the hospital for a while, sometimes a long while.

Dr. Feldkamp: Sometimes a long while. It depends on the complications related to the gastroschisis. So if they're born with intestinal atresias . . .

Dr. Jones: Meaning in the process of maybe closing a little bit, the bowel that gets cut off its blood supply, so it just doesn't develop.

Dr. Feldkamp: Right. And so you can't pass the meconium. You can't pass stool when the baby is born. So that actually has issues and can have long-term issues if surgeons have to actually remove part of the bowel that has become dead. So that becomes an issue with feedings.

Dr. Jones: Feeding is first. Nutrition, how are gut actually handles our nutrition and passes things through our body, and then eventually don't they try to close the abdominal wall? These kids aren't born with open tummy for the rest of their life.

Dr. Feldkamp: Right. They do try and close the abdominal wall. They have to do that very slowly.

Dr. Jones: In stages.

Dr. Feldkamp: Yes.

Dr. Jones: So now we've done a lot of good work. We've gone from mortalities at 90% to 10%. We have got great surgical techniques and great feeding techniques. Now we understand what little tiny babies need. But the next step is trying to understand a little bit about the causes if we're seeing 1 in 400 young women have babies with this birth defect. That seems to be my idea of this because I see all the numbers of the sick babies that come to our university and there are quite a few.
So now our issue is how to find out about it. What do you think? What are you thinking these days? Is it we don't know yet, we need more information, we need to be able to count it?

Dr. Feldkamp: We definitely need to be able to count it. We don't know a lot yet. Certainly young maternal age is the strongest and most consistent risk factor. Smoking, so tobacco use has been associated with gastroschisis. But I think if you look at some of the epidemiologic characteristics, the interesting thing to be is that infection in these young women is increasing in general, in the general population.
So if you look at sexually transmitted infections and urinary tract infections in women who are making their sexual debut, they're more likely to have a urinary tract infection. So that's one area of research that I've actually been working on because the characteristics of sexually transmitted infections are similar to the characteristics of gastroschisis. Young maternal age, they're both increasing. So is there a correlation there?

Dr. Jones: I just saw a paper because I was looking as I'm interested in air pollution, that suggests that bad air quality, high PM 2.5s is associated with the doubling of the risk of gastroschisis. Have you read anything more about that? Is that an issue or is it still very preliminary?

Dr. Feldkamp: Yeah. It's very preliminary. It's very difficult to actually get very good estimates on air pollution. It certainly can make biological sense because of the inflammatory response from air particles or pollution particles in the air. So that is one area. I'm not working on that per se, but I know folks from California and elsewhere around the country have been looking at that.

Dr. Jones: There are resources out there to reach out to other parents. Avery's Angels is one site that parents and people who know someone who's going to have a child with this birth defect. Remember, we often find out about it at the 20-week scan. So we have some time to sort of be prepared. So we can reach out to other organizations that can help cushion a very devastating blow, knowing that your child is going to be sick and in the NICU, neonatal ICU. Any other suggestions for parents who are facing a birth?

Dr. Feldkamp: Avery's Angels is definitely specialized in gastroschisis. I don't know of any other parent support group in the United States other than Avery's Angels. Certainly there's the Parent to Parent organizations and Family Voices, which are both national organizations. They're not specific to gastroschisis, but they certainly provide support for parents who are going through difficult challenges after the baby is born.

Dr. Jones: Right. And some day maybe you guys will be able to have a kids group, to have a young kids group.

Dr. Feldkamp: That is an awesome idea.

Dr. Jones: Because kids are totally connected. They can be kid-to-kid. Only know what they've been going through.

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Dr. Jones: Birth defects are common. One in 33 babies are born with a birth defect. January is National Birth Defect Awareness Month and today we're talking with a mother of a child with birth defects who is a national advocate for birth defects awareness. This is Dr. Kirtly Jones from Obstetrics and Gynecology at University of Utah Health Care and this is the scope of the problem on The Scope.

Announcer: Medical news and research from University of Utah physicians and specialists you can use for a happier and healthier life. You're listening to The Scope.

Dr. Jones: Birth defects are common but we don't have much of a conversation about the issues in our health care. There is some ways that women can decrease the risk of some birth defects but some birth defects we don't understand. Gastroschisis is a condition where the abdominal wall of the baby doesn't close over the internal organs. So they're born with some of these organs outside the body.
This is a devastating condition that can be life limiting but not always. It is however always a shock to the parents. Today in the Scope Radio Studio, we're talking with Kayte Thomas who is a social worker and a co-founder of a national gastroschisis support and advocacy group and she is a mother of a child who is born with gastroschisis. Welcome, Kayte.

Kayte: Hi. Thank you for having me today.

Dr. Jones: Also in the studio is Dr. Marcia Feldkamp from the Department of Pediatrics at the University of Utah who is a researcher in the area of birth defects and gastroschisis specifically. Welcome, Marcia.

Dr. Feldkamp: Thank you very much.

Dr. Jones: So, Kayte, we previously talked on The Scope about ways we can prevent or decrease the risk of some birth defects, but not all are preventable. Tell us a little bit about what happened when you were told about your daughter's diagnosis.

Kayte: Sure. So she was diagnosed with having gastroschisis at the sonogram around 11 1/2 weeks which is about the earliest that can be detected and it was shocking and it was scary. And I was 21 years old and had never heard of this before. I thought that I had no risk of birth defects whatsoever because I was young and healthy. And it was probably the most stunning news I have ever heard, to have a doctor tell you that your child intestines were not properly inside of her body.

Dr. Jones: I think women out in the community think that birth defects happen to older women because they've been told over and over part of the discussion about child bearing in older years is the risk of birth defects. So when it happens to younger women and gastroschisis is actually more common in younger women. Marcia, tell us a little bit about that. How common is it and is it increasing?

Dr. Feldkamp: So gastroschisis, we know the most common and strongest risk factor is young maternal age. So women who are under 20 have the highest risk. Women between 20 and 24 have the next highest risk and then it just really is decreased among women who are 25 years and older and we don't understand why.

Dr. Jones: So Kayte, there you are sitting with the perinatologist, a very young mom and so you started at ground zero in your understanding and your awareness, tell us about your path starting from that visit to where you are now as a national advocate.

Kayte: It's something wonderful that I never planned to do. I never set out to be a birth defects advocate. When I left that first hospital visit I thought that perhaps I was the only person that this would happen to because I have never heard of it. And the doctors had said you probably never meet another person who has a child with this, very rare. It was 1 in 10,000 at the time birth defects and now it has [inaudible 00:03:53] in the last decade. And the first thing I did was go online and try to [inaudible 00:03:57] some information and there was nothing.
There were no support groups, I couldn't find anybody else who'd have the condition. I found a few medical sites that were kind of scarce in their information. I did find one website about a little girl who was 3 years old that have this and I tried to reach out to the mother and found out years later that there was a glitch in her website where she wasn't getting emails. So we did connect years later and now we're very good friends.
But through that website I learned about NORD, the National Organization for Rare Diseases. And I started fundraising because they had a gastroschisis fund. And I promise that if I had ever met just one other mother who would go and do this I would support her because I felt alone. I started talking about this online and to my surprise I didn't meet just one person, I met dozens of people and then hundreds of people. And the next thing I knew other people were saying, "Oh, there is this woman, Kayte Thomas, who knows about this. Let me connect you."

Dr. Jones: And here you are Kayte Thomas. Well, that's me, that's me. Well, so I understand that you are the co-founder of Avery's Angels. Tell us a little bit about Avery's Angels and what does Avery's Angels do for moms who are newly diagnosed?

Kayte: I'm one of the founding members of Avery's Angels. The founder is Meghan Hall and she and I met together towards the end of 2009 and her son had just passed away that July from complications with [inaudible 00:05:34] and so she turned online and was reaching out to others as well. And as either luck or fate would have, we lived in the same town and the same country. And so we met up and we said, "Well, what are we going to do?"
There were five of us initially who started working towards building this non-profit. We now have over 200 volunteers, not only in the United States but in other countries as well. We provide support to families across the life span. It's all peer-to-peer support and we are all volunteer which means that we don't pay ourselves for anything that we do.

Dr. Jones: So, Kayte, you advocate and you support other parents, but you're doing some things nationally. If you were going to tell congress, if you were going to tell doctors what do you want, what would you say?

Kayte: Well, one of the things that I think is very important for the general public to know that it's really not common knowledge. It's that congress has the power to fund all of these monitoring and surveillance programs through these agencies, through the Center for Disease Control. And they're often some of the funds that get cut.
We're not having conversations about this and people aren't aware that they can call their local legislators, or their state legislators and say, "Please [inaudible 00:06:56] birth defects monitoring and surveillance funding because this is important." One of the fact is 1 in 33 members of our next generation. This is a conversation that everybody should be involved in and that everybody should feel is of be of most important.

Dr. Jones: Absolutely. And particularly with gastroschisis, we can't study what we can't measure. In other words, if it's increasing, we need to have the power and the finances to support our outreach to actually monitor from state to state. Tell us a little bit about your daughter. She's 9 now. What does she like to do?

Kayte: Oh, my goodness. She is one of the most fantastic children, not just because I'm biased as a mother. Like most 9 year olds, she enjoys playing with dolls and being with her friends. She dances and she reads every book she can get her hands on. As the moment she wants to be a scientist.

Dr. Jones: Good for her and I understand she has some hearing difficulties but she plays the piano?

Kayte: She does, yeah. She's hearing impaired from another birth defect which affect her ears called microtia atresia but she has been playing piano for six years now. And her piano teacher is also hearing impaired so that's a really good support and role model for her.

Dr. Jones: So, Kayte, I asked you what you wanted as to all our listeners to know about advocacy but you know children with this condition, what would they want us to know?

Kayte: Understand me and support me.

Dr. Jones: Thank you. Thank you. Well, birth defects are common and we need to know more. We need to know more on the causes so we can work toward more on prevention. We need to be able to ask our congress to monitor, give us the resources so that we could actually count the problem and we need more on support. Today, we've opened a little conversation with two national leaders in the field, Kayte and Marcia. And thank you for joining us and thank you all for joining us on The Scope.

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