Search for tag: "congenital"

Interviewer: We're with Dr. Stephen Fenton. He is the founder and director of the Utah Fetal Center at Primary Children's Hospital. And it is for women who have high-risk pregnancies due to a congenital anomaly with the child. There is kind of a way things used to be done. And now there's a way things are done at the Utah Fetal Center, Primary Children's Hospital, which is a much better way. Dr. Fenton, first of all, you're the founder and the director. You came in and you said, "I want to start this center."Why did you say that?

Dr. Fenton: I don't want anyone to ever think or believe that what was happening before wasn't being done to the best of its ability because it certainly was. All of these conditions were being cared for before. But the reality is it was kind of done in what I would term a physician-centered approach. So oftentimes that would require multiple clinic visits because they were separate clinics in each of the physician's clinics. And you can imagine how frustrating and how hard that must have been for that mom to kind of shoulder that burden all on her own.

Interviewer: It was a very stressful time.

Dr. Fenton: Very stressful time.

Interviewer: Just to coordinate her care kind of.

Dr. Fenton: I mean, and during all that time, of course, worried about her unborn child. And so what we've done is we've kind of shifted it from this physician-centered care to what I term patient-centered care with a multidisciplinary approach. So we, over the last five years, have put together a multidisciplinary team of all of these specialists that care for the child and for the anomaly. In addition, we've added adult specialists, so maternal fetal medicine or high-risk OBs that care for the mom, all in one place. We didn't have adult providers at the Children's Hospital. Now we have these adult MFM providers who help care for these moms. We also added a coordinator. We've added nurse coordinators that actually help the mom wade through all of this, and ancillary staff, such as a social worker, who can also help with the non-clinical aspects. We are now all in the same place. Instead of being in our individual silos, if you will, we're all located together where we can look at the images together, where we can talk about it, and where we can come up with a care plan not only for the mom until baby is delivered, but also for the child after delivery.

Interviewer: What is the objective of the center?

Dr. Fenton: We want to make sure mom and baby first have the right diagnosis. It's much easier to help the parent learn what the condition is and start understanding what the treatment, if any, will entail before the child is born. Now that's one aspect. The other aspect is some of these kids need intervention before they're born. And in order to do that, it's very specialized. It requires a team and it requires being able to take the mom to proper diagnosis and from diagnosis to intervention, and then from intervention to delivery safely. And you can't do that without proper infrastructure, and the Utah Fetal Center is that infrastructure.

Interviewer: Can you give me an example of a couple of the common conditions that you would require that would require this multidisciplinary team?

Dr. Fenton: Congenital diaphragmatic hernia is one that comes to mind, myelomeningocele, that's another word for spinal bifida, CPAM or congenital pulmonary airway malformation also known as congenital lung lesion, atresias, intestinal atresias, omphalocele, gastroschisis. These are all things that are surgical too. We oftentimes see kids that don't necessarily require surgery. So some of the genetic disorders like trisomy 21. We also see kids that have neurologic issues, so brain malformations that won't necessarily require intervention, but will require a coordinated care with multiple providers.

Interviewer: What does that initial consultation entail when they come to you? What does that look like?

Dr. Fenton: In the morning, they oftentimes will undergo an ultrasound and consultation with one of the maternal-fetal medicine physicians that work at the Utah Fetal Center. Dependent on what the original diagnosis is, and oftentimes we have already received outside imaging from the referring providers and reviewed it, they might also undergo a fetal MRI, and that fetal MRI will give us even more detail, especially when we can compare it to the ultrasound that happens on that same day. It's read by the fetal radiologists that work in the center. And then usually we give them a little bit of a break. They go to lunch, etc., and then come back in the afternoon or early afternoon, and there, they will see the specialist, the sub-specialist that will ultimately care for their child.

Interviewer: If a patient wasn't referred and they believe that the Utah Fetal Center is the place that they would like to go, are they able to call?

Dr. Fenton: Absolutely. They can go to our website, utahfetalcenter.org and self-refer. We really want to help these parents get through this very, very difficult time. We understand that there are a lot of providers out there that are doing a portion of this, and we certainly appreciate all that they are doing. We are not looking to just assume all care of these moms because we know that a lot of their care can be delivered close to home, but we do feel like it's very, very beneficial to start that coordination of care early so that we can help the parents understand what is happening, obtain expectations on the treatment plan, as well as understand the treatments involved and then initiate that plan early, and in the long run we know that doing so with the help of the many providers, not only here at the University of Utah and Primary Children's Hospital, but across the state will allow us to do that.

Interviewer: Pectus carinatum is a condition where the chest and the ribcage press outward. It has received over the years the nickname "pigeon chest" because of the way that it presses out, and wanted to find out more information about that today.

And we're with Dr. Stephen Fenton. And I wanted to find out about the condition and about some of the treatments of this condition. So, first of all, what causes it?

Dr. Fenton: That's a great question. It's really unknown. It's a congenital pectus deformity. There are two of them, excavatum and carinatum. And, like you said, carinatum goes outward like a pigeon's chest. It must be some interaction between the costal cartilage, or where the ribs come together with the sternum, and with development of the chest. Those cells push the sternum outward.

It can be symmetric, it can be asymmetric, so it can be to one side versus the other. It can encompass all of the sternum. Sometimes it just encompasses a portion of the sternum. And there's a large range of mild to severe as well. People don't often also recognize something called costal flaring, and that's where the bottom of the ribcage, or what we call the costal margin actually flares out or pushes out as part of this defect.

Interviewer: And is this defect possibly dangerous to a child's health? Because normally you notice it in adolescents.

Dr. Fenton: Correct. I said congenital, meaning the child is born with this defect. But, especially with carinatum, it's usually not noticed until adolescence when the child has gone through puberty and started having growth spurts. And that's when, because the chest is developing one side or the other, starts to push out more. Is it dangerous? That's usually the first question parents want to know. It's not. The chest will be every bit as strong as their peers. And so we don't give any limitations on the child's activities. We want them to play sports, we want them to be active, and certainly don't tell them otherwise.

Interviewer: But I would imagine that that kind of chest deformity can cause some self-esteem issues for a lot of people, especially adolescents where, boy, it's a tough time of life, anyway, right?

Dr. Fenton: That is definitely one of the aspects of these pectus deformities that children often experience. And sometimes it takes the parent by surprise, especially carinatum, which usually isn't seen in the small child. Excavatum can be seen because there's a dip, and so parents oftentimes notice that, especially when the child is young and they're the primary caregiver.

When the child gets older and starts to develop, they often take over their own body. Sometimes they hide their body, if you will, from their parents, they're not taking baths with their parents anymore. And they might be someone who just wants to wear a shirt when they're in the swimming pool, and, lo and behold, oftentimes it's because they don't want others to see what their chest looks like. Obviously, the more mild form of this is much less recognizable than a more severe form and/or kind of an asymmetric form which is going to be the most obvious.

Interviewer: If it's not physically threatening, I guess the treatment would be for cosmetic reasons?

Dr. Fenton: For carinatum, that is usually the case. Now, again, we're talking about the routine kind of run-of-the-mill. In some kids where it's very asymptomatic, deforms the chest quite a bit, that's another story. Even with carinatum, I would say, they should be evaluated and we should determine whether treatment is right for them or not. For most carinatum, though, oftentimes the kids are not symptomatic in another way. So the treatment really is along cosmetic lines.

And it used to be that we would offer this surgically. It required oftentimes a big surgery with a prolonged hospitalization and recovery time. And you can think about the cost and expense of that, and so it wasn't oftentimes pursued. Nowadays, much like correction of teeth with braces, there is bracing that can occur to help correct the chest. We like to do it in kids that have a fairly young body type because their chest is still very malleable, and initiation of bracing usually at that age will allow the chest to correct, and then we, kind of, help them maintain that correction through continued bracing until they've, kind of, finished growing.

Interviewer: What's the earliest point you might consider treatment for a child, and what's the point where you're like, "Well, it might be a little late at this juncture?"

Dr. Fenton: We would like to see the kids, first of all, whenever the diagnosis is suspected. Even if they're young children, we'll see them in clinic, talk to Mom and Dad, and the child about what this is, and then come up with, kind of, a timeline on treatment.

Oftentimes we'll gauge when we should repair based on severity, and based on what the body type is. But, obviously we want to do it not necessarily as soon as it's recognized, but once it's recognized and the child is starting to initiate puberty and growth, because, again, the chest is much more malleable, kids tolerate this a lot better. The older the body type, the older the person, the treatment itself can be much more difficult and not as successful.

Interviewer: And I love the analogy about teeth because we would not hesitate to take our child into the dentist and have their teeth straightened because that's just such a self-esteem thing, and it's so important. This could be very much the same self-esteem thing. It might not necessarily be causing any pain or any other sort of conditions, you know, since it is just a brace. How long would somebody have to wear that brace to make that correction then? And is it like braces that, you know, other people are going to see it?

Dr. Fenton: Most of the braces can be form-fitting. So what I tell parents . . . and we have a list of providers that we've used in the past and parents have been satisfied with what they've had. I tell parents, "First of all, you want the child to wear it." Now, it is a brace. It's not perfect. But, certainly, if it looks like a coat of arms or armor, they're not going to want to wear it. But if, you know, it fits well, it's fairly comfortable, they're going to be more apt to wear it.

Second, you really want the place where you get the brace from to be somewhat convenient. If they're driving from Logan to St. George for fine-tuning of the brace, that's not convenient and probably won't happen. And some kids will have to go in and get adjustments every few months, especially while they're growing in order to make sure that the brace continues to fit. So convenience is the second thing.

And then, thirdly, I tell the kids the amount of time required for correction really depends on how often they wear it. And if it sits in their closet under a pile of clothes, their chest is not going to correct. If they wear it 24 hours a day, sometimes we've seen kids correct in as little as 6 months, that's hard mainly, and it depends on the timing.

So, for example, in the winter, it might be easier for someone to wear a brace to school because they're wearing a hoodie, they're wearing baggy clothing, they might not have gym, etc., whereas in the summer it might be more difficult because they're wearing a T-shirt and shorts. And so I kind of tell the parents and teenager, you know, "You need to gauge it so that you're optimizing your time with the brace. And so, if it's every day after school and all day during the weekend, then great. If during the winter months it's every day, all day long, awesome. You know, if you have to miss the days that you have gym because you don't want to take off your shirt and have a brace on in front of your buddies, that's understandable. You have to do what will actually work." And the more frequent they wear it, the faster it'll correct.

Now, the other caveat with that is, let's say they're very diligent and they wear it every day for six months, and it totally corrects in six months, but they still have a year and a half of growth, there's going to have to be some sort of maintenance. And so, you know, then I usually discuss decreasing the frequency when it's worn, usually wearing it maybe on the weekends, making sure that they're, kind of, self-assessing the chest and seeing if it's starting to come out a little bit more, if it's staying corrected.

And we actually like to see the kids back about six months after they start bracing, and then about every year after that, or when needed to, kind of, help, again, make sure that that bracing is working.

Interviewer: And after the growth period is done, then that's when it, kind of, settles in and it's not going to change anymore, it sounds like?

Dr. Fenton: Correct. I mean, once the cells have stopped really, you know, causing growth to the adult-size chest, it doesn't become more prominent.

Interviewer: Is it an expert such as yourself that parents and the children should go to? Could a general practitioner provide the brace? What would be the process if a parent recognized their children had pectus carinatum?

Dr. Fenton: If it's recognized, we would ask that, you know, you can go and verify it with a general practitioner, or pediatrician, family practice doctor, etc. Most of them will then refer these children to us because the correction does require thoracic surgical expertise, which is what we do. And when we see the child, we can discuss with them and the parents the different options, and decide whether bracing is the right way to go.

Dr. Gellner: When a child tells their parents they have chest pain, parents automatically think it's a heart problem or pneumonia. While those can be the cause, it's much more likely to be something more benign, like costochondritis or precordial catch syndrome.

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Dr. Gellner: Chest pain is one of those things that strikes fear in the parents. They want x-rays and EKGs and echocardiograms to make sure their child's heart is okay. The good news is if your child is going to have a worrisome heart problem, there's a good chance the OB will pick it up before the baby is even born. The heart is one of those organs that OBs scan during prenatal ultrasounds.

Something missed on that, well, the next heart test is actually done on babies 24 hours after birth. In most nurseries, this is the screen for the critical congenital heart defects. We call it the CCHD screen because it's easier. This checks the oxygen level in one arm and one leg on a baby after 24 hours old when the circulation has transitioned from fetal circulation, where the blood mostly bypasses the lungs before a baby is born, to newborn circulation. The change starts as soon as the baby takes the first breath after birth.

If the baby fails this CCHD test, they are transferred to the newborn intensive care unit, where a cardiologist gets involved to do an echocardiogram, which is an ultrasound of the heart. And they'll do an EKG to check the electrical rhythm in the baby's heart.

So if the problem isn't the heart and your child's lungs are good, then the pain is most likely coming from the ribs and muscles in your child's chest. There are two very common causes of chest pain in kids -- costochondritis and precordial catch syndrome.

Costochondritis is basically inflammation of the joints that connect the ribs to the breastbone or sternum. These joints move against each other every time your child breathes. Just like any other joints, if they are overworked, they can become irritated and they can hurt, and this causes pain along the front of the chest. We see this often when kids have been coughing a lot or breathing hard. Even laughing too much can cause it. Sometimes we have no idea what triggered the inflammation. But the good news is that costochondritis eventually goes away on its own.

The other common cause of chest pain in kids is something called precordial catch syndrome or PCS. It feels like someone is stabbing you right at the base of your heart, where you can feel your heart beat best on your chest. It's brief, sharp, and can sometimes take your breath away, but it's not dangerous. Doctors aren't really sure what causes it, and it does get worse if a person breathes in deeply, but it goes away quickly.

Pediatricians normally can tell you if your child has one of these just by asking questions about your child's symptoms and doing a physical exam. No special tests are needed unless there are other concerns that raise red flags for us. And then, we may do an x-ray or an EKG.

So how do you help your child if they have one of these going on? If your child has costochondritis, rest, ibuprofen, and avoiding heavy exercise or lifting for a few days does the trick. If your child has PCS, you don't need to do anything in particular to treat it because it doesn't really interfere with normal activity.

With both of these diagnoses, kids can continue to be kids. They can go to school. They can do all the fun things they want to. Quite often, just knowing what is going on and that they don't have anything dangerous is reassurance enough for the kids and their parents.

So if your child says they have chest pain, it's always a good idea to have your child's pediatrician get a good history and do a thorough exam to help you figure out what the real cause is.

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Interviewer: A teratoma is a congenital anomaly that can affect newborns. But what is it, and how can it be treated? I'm here with Dr. Fenton. He's an Assistant Professor of Pediatric Surgery at the University of Utah. And he's also the Director of the Utah Fetal Center. So Dr. Fenton, what is a teratoma?

Dr. Fenton: A teratoma is a collection of tissues that develop with the developing child, and it's oftentimes a remnant. So we don't exactly know why they form, but we know that they form as a result of extra developing tissue, if you will. So it can contain all types of tissue. muscle, skin, hair, teeth, has a very characteristic finding on ultrasound and on a CT or MRI because of the different types of tissue within it.

Interviewer: So you can actually see it while the fetus is developing?

Dr. Fenton: Yes. So they can be found on the screening ultrasound. Typically, it's noted to be an abnormal mass either in the chest or let's say at the end of the tailbone, more commonly at the end of the tailbone than in the chest. And because of that mass, they're usually referred to a high-risk OB or a maternal fetal medicine physician and/or a fetal center like the Utah Fetal Center, where the mom will undergo a more formal, specific ultrasound and sometimes an MRI to further characterize this mass.

Interviewer: So when you find this teratoma, what is the course of action from there on? When do you get in there to try to help treat it?

Dr. Fenton: First of all, we want to confirm what the findings are. And so again, typically they will go to, say, the Utah Fetal Center, and they'll be seen by a maternal fetal medicine physician, who will have them undergo a specialized ultrasound, which will look at the mass further. Obviously, other masses can develop. These have characteristic findings because of the multiple different tissues that are within it, which will help us kind of determine whether we feel like it's a teratoma or something else.

In that case, when we feel like it is a teratoma, we will follow the mom very carefully because we know that the teratoma will grow. And it can cause a couple of problems with growth. So let's say it's hanging off of the tailbone. The growth is not really restricted because it's not in a contained space.

But what can happen is because of excessive growth, it can actually have an increased blood flow through it, which could lead to strain on the heart and could actually cause the child to go into heart failure. We call it hydrops. So you start seeing swelling of the child's tissue fluid within the chest, fluid within the abdomen. And hydrops is obviously very dangerous for an unborn child. And so we would want to try and intervene on that before really hydrops is discovered.

And so, in the case of a sacrococcygeal teratoma, we can look at other things that tell us that the child is starting to have strain. And if that's the case, if the child is very young, let's say less than 28 weeks gestation, then we would advocate for a fetal surgery, where that portion of the child is actually delivered outside of the womb, and the tumor debulbed, or the majority of it is removed, not completely but removed to the point where it should decrease the chance or eliminate the chance of further cardiac compromise on the kid.

Interviewer: And what about if it forms in, say, the chest because that's the second most common, in the mediastinal area?

Dr. Fenton: That's correct, the anterior mediastinum, so it's in front of . . . it's right underneath the sternum or that middle chest bone. And the problem with that is usually later on in pregnancy, because as it grows, it starts to compress a couple of things. So first of all, it can compress the airway. Now, a child in the womb doesn't breathe because it has the maternal support from the placenta. But when the child is born, that can obviously cause some real problems, especially when the child tries to take the first breath.

But also, it can push on the vessels of the heart. And so the cardiac function is compromised in that the heart is really trying to pump hard but can't get blood out. And, again, we can start seeing signs of hydrops or heart failure on a child, and we would want to intervene sooner than later.

And if the kid gets to about 28 weeks, we want to try and get them as close to term as possible, but when they get to at least 28 weeks, we would advocate to deliver them early. And the way we would deliver them is by doing what we call an exit procedure, or it's an ex utero intrapartum therapy. So it's outside of the uterus, but still within the birthing process. And so we can actually deliver the head of the child in this case, leave the rest in the uterus so that the placenta still works, and put a tube in their throat to make sure that they can breathe properly before we deliver them completely. Or I was going to say in extreme cases, we could actually open the chest and take out the tumor while on placental support as well.

Interviewer: And for the mother whose newborn child may have a teratoma, what can her expectations be for her child?

Dr. Fenton: I think a lot of that depends on when it's found and the state of the child. So what I mean by that is if it's found very early in pregnancy, and there's no real compromise to the child, we can follow them closely to the point where something can happen and help that child get to delivery. A child that has hydrops has a very high mortality rate or death rate, and we want to try and intervene before that happens. In a newborn, so a child who has been born where a teratoma is found and the child is doing well, most of those can be removed. And when they're removed early, there's a smaller chance that there will be a malignant component to it or require further treatment and a higher chance that the surgery is all that is necessary.

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Interviewer: There's a cause for hearing loss in children that might be entirely fixable. We'll talk about that next on The Scope.

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Interviewer: I'm talking with Dr. Albert Park about cytomegalovirus. It turns out that cytomegalovirus or CMV is really pretty common and a lot of us are probably infected with it but don't even know it. But it's a different story for newborns, right? What happens there?

Dr. Park: Yes. So many of us may get the infection, maybe when we were toddlers or later in life. And so, especially in underserved areas, you could have prevalences of as high as 80% or 90%. In Utah, it's much lower, but still a significant number of the adult population here has been exposed to this virus. Fortunately, when you get it, when you're older maybe you may have a bit of a runny nose, a cough, but really no other significant symptoms.

The problem really is in the unborn child. So if a mother contracts the infection during her pregnancy, unfortunately that virus then can be passed on to the unborn child, and then that child can really develop devastating and very severe problems from this infection. It can range from unfortunately fetal demise or death to less severe but still really impactful conditions, such as brain defects, hearing loss, developmental delay issues, speech and language. And so, because I'm a pediatric ear, nose, and throat physician interested in hearing loss and because hearing loss is a really big factor in this infection, that's how I became involved in this.

Interviewer: So if this virus is so common and so easily transmissible, why have we not really heard more about it before?

Dr. Park: Oh, that's a great question. I don't know. I mean, I know that, for instance, Down syndrome, spina bifida, other conditions are actually much less common than cytomegalovirus, have a lot more press and a lot more awareness. It's interesting that Zika, which is a huge issue globally and it certainly is, but actually, cytomegalovirus, which also causes microcephaly and central nervous system abnormalities is a bigger problem in the United States and in Utah than Zika is.

Interviewer: And so is it that every unborn child that's infected with CMV has birth defects?

Dr. Park: So the numbers are that it's believed that congenital CMV can affect as high as maybe 0.5% to 1% of all live births, so it's a huge number of children who are exposed and can be infected. Fortunately, the majority of these children will develop the infection but not develop any disease. So they won't develop CNS or central nervous system problems. They won't develop severe hearing or mental, sort of, developmental problems.

But in a significant number of these children, unfortunately, that can occur. I think our task as providers and as parents is to really be aware of this condition. There are very good approaches that one can do when you're pregnant to minimize the risk to your unborn child. The sort of a classic scenario would be that a mother may have an older child, maybe two or three, who unfortunately gets the infection and that child doesn't have any problems. But then that child, maybe when, at two or three, then passes on the infection to the mother and it's passed through contact exposure so that could be, maybe in sharing utensils, kissing on the lips, playing with toys. And again, if the child puts the toy in his or her mouth and somehow that then gets into the saliva of the pregnant mother, that can cause infection.

So simple as hand washing is really crucial. Not partaking in sort of practices that can increase your risks of transmission have been shown to be very helpful in reducing the risk of developing it to the unborn child.

Interviewer: And now, you're taking this even one step further and you hope to be able to treat these children who have tested positive for CMV and have hearing loss. What are you doing there?

Dr. Park: I think what has been the controversy, at least, among the American Academy of Pediatrics and other societies is whether treatment of some sort could be effective. And so we have really wanted to answer that question. The question, really being, could a medication such as an antiviral possibly improve the hearing outcomes or at least prevent the progressive hearing in these children with congenital CMV. There is some data from some other studies showing that severely affected children with congenital CMV when treated with this antiviral medication, they had better hearing and neurocognitive or mental, sort of, developmental outcomes.

But the question really is this large group of children with just hearing loss from congenital CMV, what could an antiviral potentially provide for them? And so we are embarking on an NIH-funded clinical trial. It will involve about 30 different sites. So this will be a national study. And what we're going to try to determine is whether the antiviral treatment will provide better hearing outcomes or speech and language outcomes compared to children who do not undergo the treatment. If we are able to demonstrate this and that, I think, could change the, sort of, picture of CMV testing around the country and may even push us toward universal screening.

Interviewer: And so what is your hope with these different efforts that you're involved in? But you know, what do you hope to accomplish?

Dr. Park: Well, I think there's a number of sort of goals. I think, one is I would love it so that every family when I go down the street and bump into them know what congenital CMV is, that they know that, you know, simple hand washing and measures to prevent the transmission and the infection can be done and that they do this on a regular basis, that in those children who are identified that these kids are all being identified so we have a screening program that's nationally available to do this. And if we are able to find an intervention like an antiviral that prevents further progress or worsening the hearing, that the families and the children have the opportunity to have that treatment available to them.

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Interviewer: Are you considering a career as a nurse, but you don't quite know where to start? Matthew Anderson is a nurse at University of Utah Health Care, and we're going to ask him how he got to where he is, what kind of education it took, his experience with finding a job, and what he's learned about being successful. First of all, thank you very much for taking time to give us an insight into you, and your life and your career.

Matthew: Absolutely. I'm glad to do it.

Interviewer: What made you decide to pursue this path, to become a nurse?

Matthew: Yeah. So I was actually born with a congenital heart defect called coarctation of the aorta. At six days old I was life-flighted and had a surgery, and so I've had frequent contact with health care since. You know, I've a yearly check-up with cardiologist and everything and had a few procedures throughout my life, and as part of those was in contact with nurses. And having that right nurse that just demonstrated appropriate compassion, responded to you appropriately, made all the difference. And that's kind of where my desire to become a nurse, again, was just from those nurses that I had that made a difference in my care.

Interviewer: So you knew you wanted to do that. You had some very specific reasons why. What was the next step at that point? Was it to start looking at schools, or was there some preparation to do before that?

Matthew: Well, actually what I did was when I was in high school, my school offered a CNA course, Certified Nursing Assistant course. And so I said, "You know, that's the bottom of the food chain. I'll take that course." And because I wasn't quite sure if I wanted to do nursing. You know, there's kind of the stigma of a male nurse and everything on that. So I said, "Hey, I'll take this course. If I enjoy that, I'm pretty sure I'll enjoy nursing." And I did, and I really liked it. I love having a personal contact with people, you know, and just being able to help people in their time of need, in that really vulnerable state.

And so that's kind of what started it for me, and then I guess for it to continue on with education and everything, I actually did a little bit longer of a route. I went to community college first and got an associate's in pre-nursing, but then I transferred to Brigham Young University, and their nursing program once you get in, is three years long, as opposed to most universities it's two years once you're in their program. And so it actually took me about five years to get my degree.

So a little bit longer than most paths, but you can get an associate's in nursing. That's what my wife did, which it took her about three years. Usually it takes about a year of prereqs, and then two years in the program. Or if you get a bachelor's, you do about a year to two year prereqs, and then two to three years once you're in the program.

However, the Institute of Medicine recommends that all nurses get their bachelor's. So whether you start with an associate's and then go back and get your bachelor's, it is recommended that you get that higher degree. It just gives you more, kind of, a global training, and helps you kind of see a bigger picture than just direct patient care.

Interviewer: Yeah. So it sounds like you could get a career or a job in nursing, and then continue your education if you wanted to continue it that way.

Matthew: Absolutely.

Interviewer: And so, how difficult was it to get into nursing school? I'm of the impression that I've heard that it's difficult.

Matthew: It is. Yes. And it really depends on the program you apply to, but it's pretty competitive nowadays. It's one of those careers that's been growing. It's expected to continue to grow. The average GPA for the program I applied to at BYU was 3.88 to get in. So it's pretty high. And I think that's probably the highest in the state, but you know, I work with CNAs who've worked in the hospital for 10 years and they haven't even been able to get into nursing school. So it can be difficult. So you have to prepare and do really well in your prereq courses, kind of the GPA. Some prefer work experience. It kind of depends on the school. They all have a little bit different criteria, and that can be difficult for training people as well.

I have a co-worker who took classes here at the U, and then she's trying to apply to SLCC's program, but they didn't accept her classes at the U because it didn't have a lab. Even though they weren't different credits, it didn't have the lab, and so that can be really frustrating as well. And so, you kind of have to do your research in advance, know where you want to go and figure out, and talk to people who they're advisors, everything like that, really figure out what you need to do.

Interviewer: If somebody doesn't have that huge GPA, are there other routes that you are aware of? Or is that really kind of a roadblock right there?

Matthew: Well, for some programs. So BYU, that's a big part of theirs. It just kind of depends on the school. Some weigh in work experience more as part of their application. There are, you know, service and leadership components that kind of help with the application. Also, some schools will let you buffer at the SAT and your GPA. So if you do really well on the ACT or SAT or something, that can kind of buffer your score as well. So there's different things you can do. Really, just knowing your school, you know, your target market if you're trying to get into.

Interviewer: Yeah, and maybe talking to an advisor and just saying, "Hey, my GPA is not that strong, but I'm really passionate about it. What can I do here?"

Matthew: Absolutely. And it really depends on the semester too, because you know, as the average . . . I had friends at BYU that had a 3.4 and got in. And so it just depends on the year as well. Even not as many applicants apply this year, and there's a number of factors that go into it as well.

Interviewer: How hard is it then to get a job?

Matthew: It really goes . . . it fluctuates. So you know when there's nursing shortages, it's not hard at all. You can pretty much work wherever you want. They'll hire new grads to ICUs and EDs where they don't typically hire new grads to, and so it really just depends. You know, back in 2008, when there was kind of a hiring freeze on nurses, really hard to get a job initially.

When I got out of school, it was a little bit harder. So it took some of my classmates a few months, which really is not long. We took a few months to find a job, but in that hiring freeze, it was difficult to find a job. And so, it just kind of depends. Right now is a pretty good time. You can find a job pretty easily.

Interviewer: So there are opportunities then to move up and move around. I mean, what does that kind of look like then?

Matthew: Yeah, absolutely. It really . . . I mean, there are so many avenues. I remember when I graduated, one of my instructors gave us a list of things you could do in nursing, and it had like over 200 different positions. But just here, I work at the University of Utah here, and you know, on each unit you have your nurses, but then you also have charge nurses.

Also, they have clinical nurse coordinators, who are kind of are quality or scheduling, nurse managers, nurse educators. And there's quality nurses, there's infectious disease nurses. As far as advancing, leadership is a big thing as well. Education is a big thing. Research is kind of another field. Procedural areas, all kind of different areas you can go.

And so sometimes people are like, "You know, I did this for five years, and I got tired with this. So I went over here." And I love that flexibility in nursing.

Interviewer: It's also kind of cool that there are so many opportunities I think. A lot of people just think of the bedside nurse as the nurse, right? But there's a lot of responsibilities and roles that nurses will play and that's . . . continue to expand from what I understand as well, in health care. Yeah.

Mathew: Absolutely.

Interviewer: So what advice would you give somebody, you're at a party, somebody is talking about that they're considering becoming a nurse. What advice would you have for a person considering that career?

Matthew: I guess going back to that, just remembering your "why," remembering why you're doing it, because you'll have times you're like, "This is not what I signed up for. This isn't what I want to do," you know. Every program of study has their challenges, and in college you're like, "What did I do?" But I think sometimes, you really also kind of have a spiritual journey as well because you're working with people who are near death. And sometimes that can be really taxing, especially when it's somebody young or somebody who's close to death.

Or if I take care of a child who's the same age as my child, and maybe they pass away, that can be very difficult to deal with. And so those things that you don't really think about, that can be emotionally taxing, and so you have to just remember why you did it, and that you're there regardless of the outcome. You're there to care for them the whole way.

But also again, just going . . . If you're preparing to go to nursing school, just do your research. You work hard, but you've got work smart as well. Because I've known people who've worked really hard, and they've gone the wrong direction, and so they have to retake all these prerequisite courses to try and get into nursing school. And it's taken them much longer than it has to have.

Also, sometimes it's better just to plow through things. And we all have different circumstances with families and different things, where you have to take care of needs, but sometimes it's better just to get it done. I've seen people who have stayed in school for far too long, as well. They take the 10 year route, as opposed to a 2 year route.

Maybe work part time, and go to school full time, as opposed to working full time and going to school part time. And get through school, because the difference between HCA pay and RN pay is a big difference. And so just get it done, get it out of the way, and then also it opens opportunities further for advancement once you're a nurse, much more than when you're an HCA if that's kind of the route that you're doing.

But really, like I said, know your schools you're going to be applying to. Know what they need. Know what kind of sets them apart, especially if you're GPA is not as strong. Know what can set you apart, leadership things you can have, everything like that.

Interviewer: It sounds like try to get through school as quickly as possible, if you can work in the field while you're going to school. I'd imagine that there are a lot of advantages to that.

Matthew: For sure.

Interviewer: Not only, you know, being able to pay for your education as you go, but really, making what you learn in the classroom stick because you're using it.

Matthew: Absolutely.

Interviewer: And then just remember that "why."

Matthew: Yeah. Absolutely. Remember that "why." It makes a big difference.

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Dr. Jones: When is a human uterus like a horse or a cat uterus? Well, it's not, except when it is. This is Dr. Kirtly Jones from obstetrics and gynecology at the University of Utah Health and we're talking about uterine anomalies today on the Scope.

Announcer: Covering all aspects of women's health, this is the Seven Domains of Women's Health with Dr. Kirtly Jones on The Scope.

Dr. Jones: The human uterus is shaped sort of like a light bulb, the old-fashioned kind. The metal part at the bottom is the cervix, which keeps the uterus anchored in the pelvis and keeps the baby in. The bulb part is the actual uterus. Inside the bulb is the uterine cavity where the baby grows and it's normally shaped like an upside down triangle. Two corners at the top of the triangle point into the fallopian tubes and one corner points down into the cervix. The uterine cavity is flat like an envelope until it's filled with the pregnancy.

Congenital uterine anomalies, malformations of the uterus that occur during fetal development, are common. About five percent of women, one in 20, will have some kind of uterine abnormality. Although many women have a uterus that slightly abnormally shaped and they may never know about or have any problems. Some uterine shapes can cause recurrent miscarriages or premature births or infertility.

Rarely, about one in 5,000, women have two uteruses and two cervices and two vaginas and about one in 1000 women have no uterus, no cervix, and no vagina. Understanding how the uterus develops is helpful here. In human and mammal development, there are two tubes that come together in the pelvis. These two tubes fuse together at the lower end and the middle of the fuse two tubes dissolves to make one uterine cavity and one cervix with the two fallopian tubes at the top.

Now, this is something that's really better on video than audio. So let's do an experiment. Imagine yourself taking two foam tubes, one in each hand. The kind of floppy foam tubes. So you're holding these foam tubes, you bring your hands together and the foam tubes in your hands at the lower part of these tubes fuse and the upper parts are kind of floppy on the sides. Those are the fallopian tubes so where they fused together, that makes the uterus.

Now if that fusion doesn't happen normally, if you got those two foam tubes in your hands, you get to uteruses and two cervices. If at all fuses and dissolves, your hands come together and you get no uterus or cervix. If it fuses but doesn't dissolve completely, you can have a uterus that's Y shaped with two horns or uterus with the wall down the middle.

Men, by the way, had these two tubes when they were developing but males make a chemical that makes the entire uterine system disappear well before they're born. That's why guys don't have a uterus.

Women without a uterus or cervix don't have periods so that's usually discovered when they're teenagers. We want to end with just a little dent on the top of the triangular uterine cavity, like horses, have about we call arcuate uterus or heart-shaped uterus and they may never know it as it doesn't cause problems.

Women with the Y-shaped uterus, we call it bicornuate, and that's the normal shape for mammals to have lots of little babies like cats, may find out that this is the uterus when they have premature babies. Women with the wall in the uterine cavity, called a septum, may find out that they when they have recurrent miscarriages.

There are many other less common uterine anomalies, but what do we do about this? Well, the majority of women with uterine anomalies have no problems except with pregnancy. We don't recommend that all baby girls or young women have imaging of the uterus to find out if it's normally shaped or not.

Some women find out that they have an abnormally shaped uterus when they have a cesarean section, maybe for a breech baby, and an abnormally shaped uterus is more likely to lead to a breech presentation of the baby.

Women who have had a very premature baby for no good reason may be advised to get imaging of their uterus. Depending on the problem, this might be done with a special kind of ultrasound or an X-ray that puts a special fluid in the uterus so the uterine cavity can be evaluated on a screen or an MRI.

Women with recurrent miscarriages usually get some kind of imaging to see if they might have a septum or wall down the middle of their uterus. The good news is that reproductive medicine specialists can surgically remove this wall with excellent results for the next pregnancy.

If someone has a uterine anomaly, what kind of doctor should they see? At the U, we have a team of reproductive endocrinologists, specialists in reproductive problems, who often team up with our high-risk pregnancy specialists to work out a plan for each woman and her uterine problem.

Surgical correction of the problem is often is an option. When there's no way to correct the problem, we often talk about gestational surrogacy where we use someone else's uterus to carry your biological baby, which we can do at the University of Utah Hospital in our Center for Reproductive Medicine.

Human development is amazing and interesting and, of course, I think the reproductive system is the coolest. But when things don't go exactly right, there are specialists who have experience and probably they can help you out. And thanks for joining us on The Scope.

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Interviewer: Stepping out of the Ivory Tower and into the arms of the patient community. Up next on The Scope.

Announcer: Examining the latest research and telling you about the latest breakthroughs. The Science and Research Show is on The Scope.

Interviewer: I'm talking with Dr. Gabrielle Kardon, Associate Professor of Human Genetics at the University of Utah. Dr. Kardon you were in Washington D.C. last week, what were you doing there?

Dr. Kardon: The purpose of the whole trip to D.C. was to go with these families who are all affected by congenital diaphragmatic hernias. So this is a common birth defect that affects about 1 in 3,000 children, and to rally support from the House and Senate for increased funding for NIH, in particular for birth defects and CDH.

Interviewer: Could you have imagined doing this a year ago?

Dr. Kardon: Well maybe a year ago, but five years ago I wouldn't have. What we were able to find is that the connective tissue, which is basically the matrix that's surrounding the muscle and hooking the muscle to the tendon was regulating everything about development of the diaphragm's muscle. It controlled normal development, and that actually mutations in the connective tissue were the cause of this very common birth defect.

At first it was it's just a really interesting scientific questions and then over the years as we started to make progress and we realized that actually maybe we could gain some serious insights, then I was very interested in connecting with the families. In part just because you get interested in it and you want to know really what is the situation if you have CDH. And then in part because it turns out the family members have lots of information that they don't realize that they have that gives you incredible insight into the birth defect.

Interviewer: Is it fair to say that this intersection with this disease has totally refocused, at least part of your lab?

Dr. Kardon: Yes. I had always worked on limb development and limb defects, but now more than half the lab is working on the diaphragm.

Interviewer: You have mentioned that they have information that has helped you. What kind of information?

Dr. Kardon: So for instance, I was talking to parents in D.C. and there were at least two parents who were talking about CDH babies in which also in that baby was not only this diaphragmatic hernia, but they had a cleft palate. And it turns out that there are developmental processes that are very strongly linked between the two and so to see them repeatedly in the same patient gives you some insight into the science behind it, so that was something that was really interesting.

Interviewer: Do you think that you've been able to give something back to them? Do you talk to them about your science and do they understand it?

Dr. Kardon: Right. Actually, I think there's one way that was sort of surprising that I think maybe had the most impact on them. There's an enormous variability in the single diagnosis and for the families that's really hard. So it is really hard to be the parent of a child who dies and meet up and see a parent of a kid who also has the same defect, but looks completely normal. And I think that's very difficult, I think it's difficult to be a cohesive group when there's such different outcomes.

So I think the thing that I could contribute to that conversation is to tell them that there are good genetic reasons as to why there's such variability and in fact this is one of the real scientific conundrums about the defect is that there are many ways to get a hernia. And in part some of those ways to get it involves this de novo mutations that arise in the kids and when and where those mutations arise really affects the outcome. And so that when as a parent, as a pregnant mother, you're diagnosed at 20 weeks with the CDH, you have absolutely no idea what's going to happen when your baby is born.

Interviewer: So it's not their fault.

Dr. Kardon: It's not their fault and it's very different from let's say, people who have Duchenne muscular dystrophy, where they're all pretty... there's some uniformity to the disease. There's a pretty general progression. There is not any uniformity in CDH, which makes it really difficult.

Interviewer: Do you think they take comfort? Some people have taken comfort in knowing that?

Dr. Kardon: I don't know, it's hard to know. This is my first sort of serious interaction with patients... sorry, with parents of patients and with patients, and some of the parents it was pretty raw. There were parents who were at this meeting who have lost their baby only a month ago. So they're in a tough place.

Interviewer: Yeah. Obviously this turned into kind of an emotional investment, as well as a time investment. I don't know, what does that mean for you?

Dr. Kardon: I don't know. I make a pretty serious commitment to do the science, and that commitment means that I'm taking time away from my family, and so I would hope that what I'm doing should be something that's important and makes an impact on someone. And so it's helpful to see who that would make a difference to. And I really am still a basic scientist. But it's kind of hard when you're working in this direction and you can see that there are hints that you may be able to do something in terms of therapy and it feels like it's a challenge, it's kind of this puzzle, "Why wouldn't you do it?" We could actually do some clinical trials using mice, now wouldn't that be really interesting?

Interviewer: Is there anything that you can think of that you want to make sure to get across?

Dr. Kardon: I guess the one thing it's really that scientists sometimes shy away from interacting with the patients of the families and it seems a shame, it seems like you can learn so much from them. They have an enormous amount of knowledge that they don't even realize that they have about the disease. It's just buried in them, funny little observations that they have made. And you come in there with a completely different set of eyes and talk to them, and they'll say something and you'll go, "Wait, wait, say that again. What is it? What happened here?" And you learn a huge amount from them, so I think it's really worth while.

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Dr. Miller: Congenital heart disease, what is that exactly? We're going to talk about that next on Scope Radio.

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Dr. Miller: Hi. I'm here with Dr. Colin Cowley and he is a Professor of Cardiology at the University of Utah and he also practices at Primary Children's Hospital. Colin, tell us a little about what congenital heart disease is.

Dr. Cowley: Congenital heart disease is a form of heart disease present when a child is born. Congenital just simply means present at birth. There's a large spectrum of diseases that we see, ranging from very mild that essentially heal themselves to life-threatening forms of heart disease the require multiple surgical procedures and other types of interventions.

Dr. Miller: Do you have any estimate as to how often a child might have congenital heart disease out of the population?

Dr. Cowley: It happens in about 1% of all live births. There's a large spectrum, as I've just said, from very mild to immediately life-threatening.

Dr. Miller: And so I would think, with modern medicine since the '50s probably, a lot of these kids are alive now and living into adulthood. Is that correct?

Dr. Cowley: That is correct and that's one of the important changes in medicine, at least from my perspective. Many of these forms of heart disease, historically children at a very short live, many of them didn't survive the newborn period. Others survived into childhood very handicapped as a result of their heart disease. But with advances in surgical intervention and catheter-based intervention and imaging and medications, the vast majority of these children now survive into adulthood.

Dr. Miller: Which then presents a new set of problems, I believe. So that they need to be managed lifelong it sounds like.

Dr. Cowley: Exactly.

Dr. Miller: And it's not just regular care, they need specialty care I would assume, right?

Dr. Cowley: This is very specialized care. There are now more adults in the United States with forms of congenital heart disease than there are children. There are well over 100 large centers around the country that provide care for children with congenital heart disease and very few centers that are now prepared to take care of adults with congenital heart disease.

Dr. Miller: And my understanding is you run of these centers of Primary Children's, is that correct?

Dr. Cowley: Correct. It's a collaborative program working with people at the university hospital as well as Intermountain Medical Center.

Dr. Miller: And this involves multiple specialties or a multi-specialty orientation so you've got cardiology, thoracic surgery and pulmonary medicine.

Dr. Cowley: Yes, there are a large number of sub-specialties that become involved with these patients. In addition to heart disease, there is a very high instanced of associated diseases, kidney disease, lung disease, neurologic disease and a variety of psychosocial issues that have the potential to very seriously affect these patients.

Dr. Miller: How does a patient get into your program? How do they seek out and receive that specialty care that seems so important to their longevity?

Dr. Cowley: Many of them have been within our program throughout their life. We estimate there are about 8,000 adults in Utah alone with some form of significant congenital heart disease.

Dr. Miller: That's a lot.

Dr. Cowley: It is. Many of those have been lost to follow up and we are in the early stages of really formalizing our program and we will reach out to everybody any way we can to make sure the people realize we now have the infrastructure set up to provide them with comprehensive care across the board.

Dr. Miller: So for a patient who's involved in comprehensive specialty care, can they expect to live a pretty full life, and work, and is that generally the case?

Dr. Cowley: Many of them. It depends on the severity of the underlying heart disease. Some of these children are born essentially with half a heart and they undergo a series of operations where they have one pumping chamber that pumps blood out to their body and the blood flow to their lungs, instead of being pumped essentially has to go there through gravity. That's associated with many negative consequences including, for many of them, serious liver disease. But the expectation is that the majority of those patients will go on to need cardiac transplantation and some of them, liver transplantation at the same time.

Dr. Miller: Now that would be the minority of the patients in your group?

Dr. Cowley: That is the minority, so most of the patients that make it to adulthood with congenital heart disease have what we would call two ventricle physiologies. So they have two pumping chambers and they have problems with valves or other issues. But there are those with the more complex forms of heart disease that represent a minority.

Dr. Miller: So for patients who have congenital heart disease that live at a distance, how often would you see them and also would you transfer some of their care back to their physicians wherever they're from, say if they're from the different part of the state or a more rural part of the state? How do you deal with that, do you have outreach clinics?

Dr. Cowley: Yes, so we have outreach clinics, in fact, we're reaching into Idaho as well we have a formal clinic in Saint George and we're actually reaching into Alaska now. There's a large population up there that will benefit from our services, but we do . . .

Dr. Miller: So you have an outreach clinic in Anchorage?

Dr. Cowley: Yes, we do. Depending on the patient we might just need to see them once a year, sometimes twice a year. If they're much sicker, more frequently than that. We try to partner with their primary care physician to provide them with support to minimize the number of times they actually have to make the trip to see us, especially if they are remote.

Dr. Miller: What would be the average age of the patient that attends your adult congenital heart clinic?

Dr. Cowley: Probably in the mid-30s at this point.

Dr. Miller: Why is it important that these patients with congenital heart disease contact your clinic?

Dr. Cowley: Well, I think prevention is key here. If we can anticipate problems for some of these patients we can potentially prevent many, many downstream problems. There's a very high rate of associated problems for these patients, some of them cardiac, some of them non-cardiac. The cardiac disease can become progressive. So if they have rhythm problems, which a large percentage of these patients do, they may not know it.

Dr. Miller: You mean abnormal heart rate?

Dr. Cowley: Exactly. Abnormal heart rates or abnormal heart rhythms. There are some excellent providers in the community that can provide very good care, but the complexity for some of these adults really requires sub-sub-specialty care that I think there's nobody else really adequately qualified to provide.

Dr. Miller: So whom should they contact if they were to call Primary Children's Hospital?

Dr. Cowley: If they called Primary Children's Hospital or the university hospital operator, either number will get them, and ask for the adult congenital heart disease program. They will get put through to us and we have a team of people prepared to provide care for you.

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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: 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.

In this episode of The Scope, Josh Hensley, twice a father of a newborn diagnosed with congenital diaphragmatic hernia (CDH) tells his story. Listen to the interview above or read the transcript below.

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

Josh: Oh, you're welcome, my pleasure to be here.

Interviewer: Josh, you've referred to the diagnosis of congenital diaphragmatic hernia a very lonely diagnosis. What do you mean by that?

Josh: So when you get the diagnosis of congenital diaphragmatic hernia you've never heard of it before. Your family members have never heard of it before. More often than not, your doctor's never heard of it before. So it creates this feeling of it's completely unknown. You see those news stories of, oh, this condition happens in once in three million people. It's not that rare, but it feels that way. And nobody understands what it is; nobody understands what's going to happen. And it just leaves you in this cloud of uncertainty because nobody knows. Nobody knows what to tell you.

Interviewer: What do you do, how do you get through that? So you've been through it twice.

Josh: Honestly, being young and naive, kind of feeling invincible . . .

Interviewer: Yeah, sure.

Josh: With our first child it was kind of a, well, if we don't accept the alternative it's not a possibility, so we're just going to always tell ourselves that this is what's going to happen and that's what is going to happen, and that didn't happen.

Interviewer: And the alternative being that your child wouldn't pass away.

Josh: Right.

Interviewer: Yeah.

Josh: Right. And so, you know, it was . . .

Interviewer: Would you change how you would approach that the second time?

Josh: The second time we were more optimistically cautious, but again we adopted the attitude of, well the only thing we can do is say, this is going to be different. You know, We're not going to lose two children. And that's what got us through. And we did not have a support system. We didn't find any awareness groups or support systems until after our second daughter passed away.

And had we had Cherubs while we were dealing with the diagnosis, while we were dealing with course of care, I do think things would've been a lot different because we would've had people to talk to, we would've had an understanding, we would've been able to rely on their experiences. And we didn't have any of that, so we did the best we could. And our way of handling it was, well, if we just have unwavering faith that everything will be okay, everything's going to be okay. And it was, that's owed to us. We had one child pass away. We're fine. Not the case.

Interviewer: So it wasn't until after your second child passed away that you found out there are support resources. And you are a fantastic support resource. What would you say to somebody that just got this diagnosis? What advice would you give them, what information, what would you tell them right now that you wish somebody would've done for you?

Josh: That everything will be okay. Regardless of the outcome, you can't focus on the negative. There are people who understand the process. And if your child passes away, if your child is critically ill for years and years and years, or if your child's 100% healthy after you're done, you still live with that trauma of the diagnosis, of the ICU stay. And everybody gets that, regardless of the outcome, regardless of the end of the journey, we all share that in common. So reach out, share your worries, share your concerns. Ask what other people did. And if you don't want advice, just say, I need to get this off my chest. We'll all listen because we all get it. So you don't have to be alone.

Interviewer: So if you would've known that there was Cherubs, for example, is the organization you're involved in. If you'd have know there was an organization that offers support of other people that are going through the same thing, you would've reached out to them at that point?

Josh: Absolutely. My wife and I have traveled to San Francisco, Boston. Washington D.C., Dublin, Ireland for different conferences and have met dozens and dozens and dozens of other families who have this diagnosis. And most of them, when we met them, had never met another family who had had a CDH diagnosis. And to actually have that in person, let alone the online presence, but to actually physically meet somebody that's an instant connection.

Interviewer: Yeah. Somebody you don't have to explain it to.

Josh: Right, right, they get everything. You know, when I say, oh, yeah, so in the ICU when this happened, and they're like, oh, yeah. And I don't have to go through a 20-minute explanation of what all that means.

Interviewer: Yeah, exactly. What other advice would you have for a family that just received this diagnosis to help get through this process?

Josh: Personally, I would say stick it out. You never know what the future may bring. It may seem pretty bleak when you hear a 50% mortality rate. There are some scary things in there. I look at my experience. Our first daughter only survived 14 hours before she passed away. We get hit with it a second time and, of course, we thought about abortion and let's forego all of the pain and everything else. But personally, my wife and I don't believe in that. If people do, to each their own. This is just my perspective.

But then I look at it, if we would've done that, we wouldn't have had 15 months with our second daughter. We would've never had the wonderful opportunities that we had. And maybe she's still alive in a different course of circumstances and we would've never known. And living with the uncertainty . . . just hold out some faith, hold out some hope. I know a lot of families that have had two CDH children, some both survivors, some both non-survivors like myself, one non-survivor, one survivor. And the thing that I get from most of them is you can't give up hope because the outcomes are so different.

You never know what's going to happen, and why would you not even give yourself the opportunity to experience being a parent? And the pain if it doesn't work out, the pain is pretty bad. But for myself and my wife, we determined that the pain of not knowing would've been worse. And I think a lot of people feel hopeless and a lot of despair, but know that there's just a big of chance that your child survives and thrives as there is that they don't. And so just focus on the positive to get yourself through.

Interviewer: In this very uncommon disease, are there some common threads of things that families go through?

Josh: When you have a child in the ICU with CDH, you have the sickest child in the hospital. There's nobody worse off than a CDH child. And that's every single one of them, regardless of outcome, that is how it all starts. And so that's the common thread. We understand the journey, even though the outcome may be different.

Interviewer: Yeah. Questions, concerns that just about every parent has when they get this diagnosis? Something that you wish somebody would've clarified for you?

Josh: I wish somebody would've told me it could happen a second time, although as rare as it is. You have the 1 in about 2,500, 3,000 chance of it occurring. The chances of that recurring again are 2% of that number. So we're literally dealing with thousandths of a percent.

Interviewer: But then even after that second child developed it and passed away, you and your wife decided to have another baby.

Josh: Yeah, we've had two more.

Interviewer: So I think that's a good question for somebody who has had a diagnosis of this and that child has passed away. Where do you find the bravery to even go down that road again?

Josh: For us we just knew that we needed to have children. We've always known, we've always felt that that was something we needed to do. And even after having two, we just figured nothing worse could happen to us than what has already happened, I guess. And we have to push forward and we can't live our lives in fear of what has happened, but only live with the hope of what may happen. And we've had two children that have no problems at all.

Interviewer: Yeah. Any final thoughts on the loneliness of the diagnosis of CDH?

Josh: Just know it's not as lonely as it sounds. There are a lot of people out there who understand, who get it, who are willing to talk 24 hours a day, seven days a week. At Cherubs, we have parents who are on-call, available all the time, survivors, non-survivors. We have social media groups, we have all kinds of avenues for you to reach out and get whatever level of support that you need. If you want advice, if you want somebody to actually talk to you, we'll do that. If you just want to tell your story so somebody will listen, we'll do that too because we get it. We've all been there. You don't have to be lonely. You don't have to face it on your own.

And that's the one of the biggest things we do is, we want people to know, what it's meant for us in finding other people has made such a huge difference in how we've coped. Even though it was kind of the aftermath of everything, it still made a huge difference and impact in our lives. And I can see the difference that we've made in other people's lives by sharing our experience.

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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.

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.

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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