Gene Therapy, Second-Hand Smoke, Infant Vision – PediaCast 115
- Gene Therapy
- Second-Hand Smoke
- Infant Vision
- Disposable Diapers And The Environment
- Hirschsprung's Disease
- Gene Therapy Could Save Kids From A Lifetime Of Eating Cornstarch
- Don't Smoke Around Your Kids
- The Green Guide To Diapers
- National Association Of Diaper Services
- Acute Respiratory Effects Of Diaper Emissions
- Disposable Diapers And The Environment (From Huggies)
- Hirschsprung's Info (Mayo Clinic)
- Hirschsprung's Info (Lucile Packard Children's Hospital – Stanford)
- Hirschsprung's And Motility Disorders Support Network
- Drunken Sailor
- Courtesy of Blaggards: Stout Irish Rock
Announcer 1: Bandwidth for PediaCast is provided by Nationwide Children's Hospital. For every child, for every reason.
Announcer 2: Welcome to PediaCast, a pediatric podcast for parents. And now direct from Birdhouse Studios, here is your host, Dr. Mike.
Dr. Mike Patrick: Hello, everyone, and welcome to PediaCast, a pediatric podcast for moms and dads. This is Dr. Mike coming to you from Birdhouse Studio and I would like to welcome everyone to the program. It is Episode 115 for Monday, March 17th, 2008. Happy St. Patrick's Day! We are going green today. Now not the whole show. It's not like an Earth Day show here, folks. You know green, St. Patrick's Day, we're going green. OK, actually we are going a little bit green and in more ways than one.
As the show progresses, you'll discover exactly what I'm talking about with that. I do want to say that PediaScribe is also going green and not, and actually, the Pediascribe green is even more – I'm going to – I'm confusing everyone aren't I?
The PediaScribe green is actually our Skeeda contest. Now I know this is the first time I've mentioned that. Although if you are a reader of the PediaScribe blog, this is not going to be something that is news to you because you already know about it. But for those of you who don't check out the blog on a regular basis, you definitely want to this week.
Karen has a contest going on in conjunction with the folks at Skeeda,. And what is Skeeda? Well, it actually is going green. And what we mean by that is instead of paper or plastic at the stores, you basically take your own bag.
And if you're familiar with whole foods, they do this quite a bit at whole foods where you can you can buy these reusable bags and then you don't have the use plastic or paper. Instead you use these heavy-duty reusable bags. And Skeeda has designer ones that are pretty cool. So in any case, it helps save the environment, OK.
So this, we're going green on St. Patrick's Day. So please check out the PediaScribe blog for more information about the Skeeda contest. And basically we're giving away some Skeeda bags. And if you don't win, there's still a coupon code at the website that you can use at the Skeeda site to get a discount on their bags. So you definitely want to check that out.
Normally I mention the blog at the end of the show. But today it's front and center, so make sure you do check it out. And again there'll be a link in the Show Notes with all the information that you need to get to the Skeeda contest. So check that out.
OK, so what we're going to talk about today? Gene therapy, also Second-hand Smoke, Infant Vision. Another green topic here; Disposable Diapers in the Environment. And then we're going to wrap things up with a discussion of Hirschsprung's disease. That's all coming up in just a little while.
Don't forget, if there's a topic that you would like us to discuss on PediaCast, all you have to do is go to the website at Pediacast.org, click on the Contact link. You can also e-mail email@example.com or call the voice line at 347-404-KIDS.
And we do – we've had some people call the Skype line. And I have not gotten around to; I think I had like eight messages, the last I looked. So we're going to later on this week or perhaps next week, we'll get caught up with our Skype mail and get some of those questions answered for you.
OK. Don't forget, the information presented in PediaCast is for general educational purposes only. We do not diagnose medical conditions or formulate treatment plans for specific individuals. So if you have a concern about your child's health, call your doctor and arrange a face-to-face interview and hands-on physical examination.
Alright. Before we get started with the news, I do want to thank the Blaggards' Stout Irish Rock for providing a Drunken Sailor there for us at the beginning of the show. OK, you know it's in honor of St. Patrick's Day. I know, I know, it's a pediatric podcast and we're having songs about drunken sailors. What is the world coming to? But look folks, it's an Irish pub song. I'm Irish. It's St. Patrick's Day. What do you want? OK.
Our News Parents Can Use is brought to you in conjunction with the news partner, Medical News Today, the largest independent health and medical news website. You can visit them online at medicalnewstoday.com.
A gene therapy treatment that restores a missing liver enzyme in test animals could provide a cure for a rare metabolic disorder in humans, according to Duke University Medical Center researchers. People born with the disorder called glycogen storage disease type IA can't make an enzyme that helps the liver store and release glucose, the sugar that also is used for energy.
Without treatment, their blood sugar levels drop dangerously low, causing seizures and organ damage. Eating raw cornstarch, a slowly-digested carbohydrate and avoiding dietary sugar can help people with the disease maintain their glucose levels. However, even a special diet does not prevent the eventual liver damage that results from the absent enzyme. And many adults with the disease develop liver and kidney failure or liver cancer. With treatment, most people with glycogen storage disease type IA have a relatively normal life span.
The gene therapy developed at Duke would give liver cells the correct genetic code for manufacturing the enzyme. A modified virus transfers the enzyme genes by infecting liver cells. The virus is not linked to any known human disease and cannot copy itself and spread to other people, said medical geneticist Dr. Dwight Koeberl, lead study author and an Associate Professor in the Department of Pediatrics.
The research involved creating a virus so focused on targeting liver cells that only a tiny amount is needed for treatment, minimizing potential side effects. Showing that the virus is safe and effective in small doses is an important step in bringing the treatment to clinical trials in humans.
The gene therapy replaced the missing enzyme in the liver to fully-normal levels and protected both mice and dogs with the disease from low blood glucose for up to a year. "No one has fully corrected the enzyme that produces glucose in the liver before. We think we can correct every cell in the liver," Koeberl said. The results appear in the March 11, 2008 issue of the journal Molecular Therapy.
The researchers tested the technique on mice who lack the genetic code needed to make the enzyme as well as young dogs with a natural occurring canine form of glycogen storage disease.
The original genetic carrier, in case you're wondering, it's a Maltese. And veterinarians at North Carolina State University College of Veterinary Medicine have worked with Duke to maintain a population of dogs with the disease since the mid-1990s.
"The success of the new treatment makes the therapy worth testing in long-term animal studies," Koeberl said. "This is a step along the way toward developing a curative therapy for our patients. The key is finding funding for this longer-term trial because there aren't many companies investing in the treatment of rare disorders."
Glycogen storage disease type IA occurs in about one of every 100,000 births in the US, and Duke is currently treating about 100 patients with the disease.
A long-term study would demonstrate whether gene therapy can prevent complications such as kidney failure and liver cancer which develop even if people strictly control their diet and blood sugar levels. Other problems associated with the disease includes growth restriction, high blood pressure, pancreatitis and persistent hypoglycemia.
"There are definite well-documented limitations to the dietary therapy. People just can't follow a diet and count on living full healthy lives," Koeberl said.& Lengthy trials are also necessary because the corrected genes don't transfer when liver cells divide and copy themselves. However, the slow rate at which liver cells divide means the treatment may be effective for many years with only a few boosters needed during an individual's lifetime.
OK, so why in the world would I include this story in PediaCast? Well, there's actually several reasons. First, we have recently talked about gene therapy. It's an exciting field with definitely a huge potential. And you hear the word, throw it around, gene therapy. But then really, the news doesn't really explain what it's all about. And we talked about a few episodes ago about spinal muscular atrophy and how just one letter in the genetic code in one gene is flipped.
And so by flipping it back the other way, if you remember how DNA is put together with the amino acids, if you just make one substitution, you can potentially really help people who have spinal muscular atrophy. Well this is another example where you take a virus and intentionally infect liver cells with this virus and the virus has the right code in it. And that gets transferred into the liver cell's genetic code so that it can make this enzyme. So definitely interesting, we're making progress with this sort of things. And I think it's exciting.
Now on the downside with this. It's a shame; this is another example of an orphan disease just like spinal muscular atrophy. And this type of research is expensive. And the big drug companies aren't doing a lot of research on these kind of diseases and or coming up with treatments for them because there's just not enough people with the problem to make it profitable.
And of course that's a problem with the business model and a market-driven medicine and pharmaceutical companies now.
Now don't get me wrong, I'm just pointing this out. I'm not saying that I'm all for the government taking over and going away from the model that we have because there's a lot of things that are also good with the model that we have. So please let's not turn this into a political debate. I'm just making the point here that that is one issue with having a market-driven business model of pharmaceutical companies.
The other reason I think this is an interesting news story for PediaCast is this is an example of one of those rare metabolic disorders that can lead to severe life-threatening hypoglycemia or low blood sugar. And if you remember from last week, we have talked about that. So it kind of goes in with last week's show.
Alright, let's move on. Don't smoke around your kids, it damages their health.
That's the message that is buzzing around the media since Dr. Steve Ryan, Medical Director of the UK's Royal Liverpool Alder Hey Hospital for Children said that one third of children treated as the hospital for respiratory problems such as chest infections and asthma got ill because their parents smoked when they were around.
Speaking on the BBC's Radio 5 Live, Ryan said that 2,000 of the 35,000 children that his hospital treats every year were there because of being exposed to their parents' smoke. He said there would be a significant drop in the number of children with ear infections, bronchitis, and asthma if their parents stop smoking.
Ryan told the BBC that parents often lied about whether they smoked when their children were around because they felt guilty. He was not unsympathetic about the reasons. Looking after children is good fun but they can be stressful and for some, cigarettes are a way of relieving that stress.
Ryan said children were exposed to several levels of risks. The highest risk comes from being exposed to passive smoke in a confined space such as being in a car or a room with a person who smokes. Mothers smoking post a greater risk than fathers said Ryan.
Even having smoke on your clothes was a risk, although not as high as actually smoking in front of children. He said that a good tip is to put another layer of clothes on when you smoke. That's what the hospital staff have to do when they go outside to smoke during their breaks. Ryan did not think more legislation was the answer to reduce children's exposure to their parents' smoke but did think parents should know about the different levels of risk.
Radio 5 Live went on to say that the British Lung Foundation estimates that 17,000 children under five years old are treated every year in the UK for illnesses resulting from being exposed to secondhand smoke. And I'm sure that number is much higher in the United States.
Last week, a study to be published in the American Journal of Public Health was announced that suggested many parents all over the world ignored the risk that second-hand smoke posed for children.
Researchers at Johns Hopkins Bloomberg School of Public Health in Baltimore, Maryland conducted a household study in 31 countries and found that 82% of parents who smoke said they did so around their children. Another study on nearly 150 babies by Prof. Stephen Hecht, Chair of the Cancer Prevention Center at the University of Minnesota, found that half the babies whose parents smoked had cancer-causing chemicals in their urine. Hecht said the take-home message is don't smoke around your kids.
A representative of ASA, it's the anti-smoking group, told the BBC that parents should treat their homes like they know how to treat their workplaces and only smoke outside.
Ear, Nose and Throat Specialist Dr. Martin Birchall was reported on BBC's website on Saturday as saying that passive smoking at home, exposing children to smoke they cannot escape from increases the risk of them getting ear disease, sticky, runny noses and sore throats.
And further down the track some of these ENT symptoms can, in due course, lead on to worse diseases such as asthma. He said, "We need to keep banging the drum until the message is driven home. Every cigarette a parent smokes in front of his or her child is one the child also smokes."
I see a lot of kids in the office though whose parents smoke at home. And so many times I can tell as soon as I walk in the room. I mean you can smell the cigarette smoke on the parents' clothes. I mean the exam room smells like smoke.
And you talk about it and almost always they say, hey doc we smoke outside. Yeah, I think some of them do and I think some of them just tell me that they smoke outside. There's still plenty of moms and dads who are smoking inside the house. And it really is a health hazard for your kids. It really, really is.
I also get a lot of parents that say, well we smoke in this one room and I wouldn't want to be in that room. It kind of reminds you the teacher's lounge when I was in school when teachers still smoked inside the school buildings in the lounge. I don't think they do that much anymore, although I could be wrong. I haven't been really in a public school for a long time. But I digress.
The thing is though; it's funny that parents who think that they smoke in one room it's cool. Because the cigarette smoke is a gas. And unless that room is hermetically sealed, the gas is going to diffuse easily under the door. And if you have forced air, furnace or air conditioning, it's going to spread even more and throughout the entire house. So it makes no sense just to smoke in one room because that smoke is going to diffuse and become equally distributed throughout the house eventually. So if you're going to smoke, please go outside.
And I like the idea of putting on a new layer of clothes. Think it, just get a jumpsuit, your smoking jumpsuit. I love it.
Alright, you get this bright orange. We are going to take a break and we'll be back to answer your questions. We got one from China coming up right after this.
Alright. First up in our Listener's segment is Erin in Beijing, China.
Erin says, "Hello, Dr. Mike. I love listening to your podcast. Keep up the great work.
I am writing to you from China. My husband works at the US Embassy. We have four children. Our fourth son is eight weeks old and rarely makes eye contact with any of us. We all try to engage him frequently. He smiles and even laughs a little. But he always seems to be looking past us. I don't remember my other three sons doing this and I am concerned. I will see our doctor next week, but I'm interested in your opinion on this. I look forward to hearing your answer. Thanks, Erin."
PS, and by the way the PS is longer than the question. But that's OK Erin, I don't mind you at all.
Erin says, "PS, I listened to a back episode today about diapering and wanted to put my two cents in. I began to use cloth diapers with son number three when he was about two months old both for environmental reasons as well as skin sensitivity issues. I'm using them for my eight-week-old and have from day one. I must tell you that the boys almost never got diaper rashes while in cloth but always get red skin and sometimes rash when they are in the disposables.
Also something to mention if the topic comes up again," which it has because you brought it up and we put it on the show. "The disposables with gel have dioxin and bleach which when mixed with urine causes a chemical reaction which some children are sensitive to can cause asthma and increased ear infections."
OK, our thanks, Erin. Wow, China, at the US Embassy. That's just so cool.
OK, let's talk about the vision thing first. This is not an uncommon concern among parents. Vision and hearing is often the concern for parents of young babies because babies tend not to perform in the way you want them to perform. I can remember a time when my daughter who now is 13. When she was a baby, we had some questions about whether she had hearing issues. And she actually, unlike my son, was not really prone to ear infections.
But she could sleep through anything. And she was the first born too. But she could sleep.
Now here's the kicker though, she didn't sleep much. But when she did sleep, she slept pretty deeply. And you just couldn't wake her up very easily and loud noises didn't wake her up. And then we got to noticing even when she was awake, loud noises really didn't seem to bother her too much.
And I remember a time when she was young, definitely a couple of months old. And she's in her carrier and we're even, I mean we're sneaking up behind her and like clapping our hands real loud. And OK, I know. Yes, I'm admitting this. But you know when you're concerned about these things, you are driven to that. So I can remember clapping our hands real loud behind her or I remember there was a time specifically when she was on the kitchen floor in her carrier and we slammed the dishwasher door and it was behind her, and she didn't even move.
And so you do start to think, is there something wrong when they're not behaving in the way that you expect them to behave? Now as it turns out, Katie is 13, she hears just fine. She was just ignoring the loud noises.
Now but it certainly is OK to be concerned though. And I think, Erin, that's your concerns certainly warrant a good exam. And your doctor will look for a red reflex. What is that? It's when you shine a light in the baby's eyes and you look through the magnifying glass and you see basically it's like redeye in pictures. You want to see the pupil, which is normally black, light up red. And what that lets you know is that the light is reflecting off the back of the retina and that the area between the outside of the eye and the back of the eye is clear. So it lets you know that the lens is clear, that there's no cataracts.
Nothing is blocking light from inside so the light is getting in there and hitting the rods and cones if you remember those from your high school biology class.
And there are things that can be in the eye like a tumor. Retinoblastoma would be a common example of that.
So that's one of the things your doctor will do is just make sure that there is a nice red reflex in both eyes. Now that doesn't tell you if there is a vision problem or not just because there's nothing inside the eye or there's no cataracts. So though your doctor also would look to see if your child can be engaged, if they're tracking, make sure their muscles seem to be working well together.
Sometimes too you got to be creative to get their attention. In fact, I had a child just the other day in the office that was a similar concern. And I couldn't get the child to track. And then I realized that they were looking again up just past me at the border in the room. And so when I kind of moved my hand further away and wiggled it around, when jiggled something used to light then I could get the baby to track.
But it did take some work. If there's any concerns at all, a referral to a pediatric ophthalmologist is in order.
Alright. And you know you'd rather overdue that. I'd rather send kids who are just fine to the pediatric ophthalmologist than to miss a kid who has a vision problem. Because a vision problem at an early age sometimes, especially if it's in one eye and not the other, the brain can start to ignore that eye. And you can, that can lead to permanent vision loss. So it is important if you have a concern to see a pediatric ophthalmologist.
And I couldn't let the diaper comment slide especially the part about dioxin and bleach and the urine. Mix them all together in the diaper to form a hazardous material. Because I'd never really heard that before. Now I've, we've talked about disposables versus cloth in the past and the landfill issue.
But with the cloth you're using more water, more electricity. For pumps you're using your septic system and putting detergent.
So I know there's an argument back and forth about which is better for the environment. But I haven't heard this whole chemical thing before.
So I did a little research. And actually I'm going to have you do a little research too if you're interested in this because I'm not going to go through all of the details on this chemical thing because it's really, I don't have time. Sorry. But that is interesting. And I have the links in the Show Notes so you can read about it on your own.
So what are those links? One is to the Green Guide which, St. Patrick's Day, green. I'm telling you, it's our green show. The Green Guide, National Geographic. We have a link to that and they talked a little bit about the environmental impact of diapers. And they do talk a little bit about the chemicals that are involved.
Also the National Association of Diaper Services. Yes, there is such a thing. They talk about it.
And then the study that did show this actually, that there is a problem with bleach. And actually dioxin is a by-product of the bleaching process. And there was a study; it was called the acute respiratory effects of diaper emissions. And they were talking about the emissions that the baby put into the diaper, but actually emissions coming from the diaper itself. And I do have a link to the abstract of that article. It's from 1999 and it was published in the archives of environmental health. So if you're interested in that, we'll have a link to that in the Show Notes as well.
I wanted to give equal say to the disposable diaper companies. And what are they saying about the environment? Because you know parents are concerned about this. So what do they have to say about it? Are they talking about using electricity and water and detergents? Are they putting themselves out as being better than cloth?
Pampers, I couldn't find any comment on chemicals or environmental impact at all at their site. Same deal at Huggies USA. Kudos though to Huggies Australia and New Zealand. They have a whole section on their website, which you can find very easily from the front page. Now Pampers and Huggies USA, maybe they do talk about it, but I couldn't find it very easily. And I even did search at their site and really didn't come up with anything.
But Huggies Australia, New Zealand, a whole section of their website devoted to this topic. They talk about the environmental impact of cloth versus disposable. They talk about the landfill issues and the fact that the disposables have decrease in bulk and size by 50% over the last few years. And they also point out that Huggies, at least in Australia, are bleached with hydrogen peroxide and not chlorine. And only chlorine bleaches are associated with dioxin production.
So I thought that was interesting as well. I'm not sticking up for one or the other here. I'm trying to give a little equal press to both because I think folks can make a good argument either way on that. And I also have a link in the Show Notes to the Huggies Australia and New Zealand sites where they talk about the environment.
Alright, let's move on. Ann in Ontario, Canada says, "Dear Dr. Mike, I love your podcast and listen on a daily basis. What an awesome show. I have a topic suggestion, Hirschprung's disease. My son was whisked away to the NICU, just the newborn intensive care unit, of the Children's Hospital on the day of his birth. He was puking up green bile and fecal matter. He was distended and his belly was rock hard. Five days later, we received his diagnosis, Hirschprung's disease. And at days old, he had the pull-through surgery.
Prior to his birth, I had never heard of this condition and therefore had no idea what we were dealing with. This topic is not widely discussed and a few support groups exist to help parents navigate through. I think this would make a wonderful show topic. I'm sure there would be a lot of parents out there who would be interested. Thanks in advance, Ann."
Alright, Ann. Well, thanks for your question. Hirschprung's disease. If you've not heard of this before, it is a disease that is named for Harold Hirschprung. And he was a Danish physician who first described the disease in 1886 when he described two infants who had died with swollen bellies. Now what is it? Well, Hirschprung's disease affects the large intestine so the colon or the large bowel and it causes problems with passing stool.
It's present when a baby is born so this is a congenital problem; it's something babies are born with. And it results from missing nerve cells in the muscles of a portion of the baby's colon. So the muscle is there but the muscle can't work because there are no nerve cells going to the muscle. So the nervous system can't control the muscles and they just sit there but they don't work because of no nerve cells.
So that means there's this thing called peristalsis where the intestine is moving and it moves the food along. But we're talking about cones and rods and retina and the peristalsis and they got. No, it's not a biology class, but if you're going to be a parent, you got to know about some of these things.
So the peristalsis can't occur very well. And the other thing is, usually the anal sphincter, sort of the things that keeps the bottom close, it also does not have any nerves going to it. And it's kind of a different muscle because in its normal state, it's actually contracted, keeping it close. And then it has to, the muscle has to relax in order to pass the bowel movement and if there are no nerve cells going to that area, it can't relax and so the baby becomes constipated because things aren't moving through the colon because peristalsis can't occur and they can't pass it very easily because it's hard for them to relax their bottom because there's no nerves going to the muscle.
70% of cases are only missing nerve cells in the last one to two feet of the large intestine. So this is usually a problem at the anal sphincter, the very end and then moving up toward upward. And usually it only involves the last one to two feet of the large intestine and 70% of cases. But that means in 30% of cases, it involves more than two feet of the large intestine. So that's a big problem.
So what happens with this? Obviously, babies are going to be constipated or people who have this are going to have constipation issues. Also, there can be problems absorbing nutrients from the food because things aren't moving through like they're supposed to. And so that can cause some problems with absorption of nutrients and then you can have some growth problems. In severe cases, and what sort of differentiate severe versus mild is just how much of the colon is involved with this.
In severe cases, a newborn child can experience an obstructed colon. Things just don't move through at all and they're unable to have a bowel movement at all. And then this can lead to major dilation of the colon and infection can be associated with that as well and then you have a condition called toxic megacolon which is life-threatening and is something that Ann's baby could have experienced and so it's a good thing they figured out what it was in time to be able to do something about it.
Now there also are mild cases where most of the nerves are there, it's just a very small amount of nerves that aren't there. So a very small amount of the colon is involved or maybe there are some nerve cells but not just enough of them.
So there are mild cases and these may actually not be detected until later in the child's life. Sometimes as late as the teenage years and sometimes in the really mild cases, it can even – you can even become an adult before you realize that this is what your problem is and here you thought it was just constipation your whole life.
Now I do want to point out with this, and I may get some hate mail on this, but if you have a mild case as an adult and you're living your life fine and it's not really interfering with your life, do you have to do something about it? In other words, if you do have constipation issues but you're fine and you have a high-fiber diet and you're getting by then you don't necessarily have to have surgery for this in that case. I mean it is important but if you are an adult and you found out you have Hirschprung's disease and it's a mild case of it, don't get all upset, oh no one caught it when I was a little kid.
Because if it's just causing mild constipation and it's not really affecting your life too much, then do you want to expose yourself to anesthesia and surgery and complications and all those things? OK, I've had my say.
One in every 5,000 babies are affected by Hirschprung's. It's responsible for one fourth of intestinal obstructions in the newborn period. Also it's five times more common in boys than girls and it's also common with other congenital conditions such as Down syndrome. And the only definitive cure for this really is surgical removal of the diseased portion of the colon.
OK so let's talk a little bit more about the signs and symptoms. As I mentioned kind of alluded to this, they are going to vary depending on the severity of the condition. So sometimes if it's severe, they're going to appear right after the baby is born.
You're going to see failure to pass stool within the first or second day of life. If they have bowel obstruction because things aren't moving, it can lead to vomiting including vomiting green liquid called bile which Anne's baby was doing. And you can also then have constipation, can make the baby fussy. They can even have diarrhea.
Now how in the world would that happen? Well if the large intestine is full of poop that's not moving as new stuff from the small intestine enters into the large intestine, it's going to kind of slide bile that's stuffed that's stuck in there and come out as liquid down below. And because that sphincter muscle is closed so tight, the mushy stuff can't get through but the liquid stuff can get through and can kind of leak through. So you can get diarrhea with this.
Usually you're going to think more constipation issues. But if the constipation is so bad that the large intestine is just filled with poop that's not moving, then you can have diarrhea as the new stuff from the small intestine goes into the large intestine.
There's no room for it to form into a turd. Excuse my language but there's no other way to put it.
So I have this conversation when we talked about constipation and diarrhea from bad constipation in the exam room and I used the word turd. And usually there's two or three year old in the room and there's snickers and laughter and it's kind of fun. So you can have diarrhea with a severe constipation.
In older children, the signs can include sort of a chronically swollen looking abdomen because of all the stool that's in there. Lack of weight gain because they're having problems absorbing nutrients which can then lead to weight loss. Again constipation, diarrhea. They can get infections in the colon even as an older child or teenager. Also anemia can occur too because if there's infection present, there may be blood lost in the stool or if they are straining to have bowel movements they can have hemorrhoids. So they can have blood loss and then maybe microscopic blood loss over a long period of time. So you don't really notice if there's blood in the stool, but over time that can lead to anemia.
OK, so what causes Hirschprung's? Well we know that's because they don't have these nerve cells in the muscle, but how does that happen? Well inside mom when babies are developing, bundles of nerve cells called ganglia are going to form between the muscle layers along the length of the colon. And this process begins at the top the colon and set the bottom, the rectum and then the anus. And in children with Hirschprung's disease, this process starts but it doesn't finish. So the ganglia do not form, the nerve cells do not form along the entire length of the colon. And so they stop, it stops prematurely.
Why, why does this stop prematurely? Well we don't know for sure. We think it's associated with mutations and several genes.
So this is a disorder with a genetic basis but it's complicated because it's probably more than one gene that's involved and may even be on more than one chromosome that's involved. So it is a little more difficult to figure out.
What we do know is Hirschprung's is not caused my anything mom did during pregnancy. There was a time when we thought maybe it was, that maybe it was an association between sort of an interaction between genetics and then something mom did or was exposed to. But they have, through some recent studies, shown that it is more of a genetic issue alone. And so moms don't need to feel guilty about having a baby with Hirschprung's disease.
So how do you diagnose it? Well first you have to think about it. If you have a kid with chronic constipation who, an infant or even an older child, you're not going to find Hirschprung's if you don't think about it.
And not all doctors think about it because constipation is so common and we see lots and lots of kids with it. And we usually don't check all of them for Hirschprung's unless it's really severe constipation. So you may want to bring it up with your doctor. And again if it's really mild and you're getting by with stool softener and that sort of thing, do you need to do anything? That becomes a legitimate question.
So what do you do? Well abdominal x-rays can show if there's a lot of stool that's not moving through the intestine especially in infants. If they have toxic megacolon, you're not going to miss that on an abdominal x-ray.
Barium enema can be done to look at what the inside of the large intestine looks like. And it can look for areas that don't seem like they're moving because the barium enema's done under fluoroscopy. So you can actually see the peristalsis of the large intestine.
You can look for it for areas that doesn't seem like they're moving.
You can also do rectal manometry. This is where you put a probe and a cuff basically inside the anus. You do this with babies and you measure the pressure. You basically inflate the cuff and see if that muscle relaxes like it is supposed to. And you can see what kind of pressure is generated, resistance pressure against that muscle at the bottom there of the anus. And so if there's a lot of pressure there and that muscle won't relax, you can diagnose or actually be suspicious of Hirschprung's with what we call rectal manometry.
And this is also why pediatricians, if your baby has chronic constipation, will oftentimes put a glove on with a little lubricant on the pinkie finger into the baby's bottom. And they're feeling to see if their finger slides through easily, if that sphincter muscle can relax. Or if they meet lots and lots of resistance and can't get through, then you do worry about the possibility for Hirschprung's disease.
Now so but those things are actually diagnostic, they just give you an idea that that might be going on. The way that you actually diagnose it is with a biopsy. And you look to see if there are nerve cells present in the muscle layer. You've got to do a full thickness biopsy. So you need a big chunk, so you usually have to have surgery for this biopsy. And that's – you look at it under the microscope look for the ganglia or the nerve cells in between the muscle layers. And if you don't see them, then you have a confirmation of Hirschprung's disease.
Treatment, again, in the severe forms of the disease where it's interfering with a person's life, they're really having a hard time with it, surgery is the only proven effective, definitive treatment to take care of Hirschprung's disease, to make it go away. And the procedure is called a pull-through surgery. And this involves removing the section of colon that has no ganglia or nerve cells. And then you connect the remaining healthy end of the colon to the rectum.
Now sometimes this pull-through surgery is done in one step immediately after diagnosis and other times, the process is two steps depending on the extent of the bowel that's affected, the condition of the child, the age of the child, the surgeon's experience. All these things come into play.
For the two step one, the first step is to remove the abnormal portion of the colon and then perform an ostomy, either an ileostomy or colonostomy. And this basically creating a small hole called a stoma in the child's abdomen and then you connect the top healthy portion of the colon or the intestine to the ileum which is the last part of the small intestines to the stoma. And then the stool leaves the body through the stoma into a bag that attaches to the outside of the body.
And then on down the road, step two, you'll close up the stoma and then connect the healthy portion of the bowel to the rectum in the second step.
Most children with Hirschprung's disease go on to live a normal life. However, they're going to be absent a part of their colon. And if it's a large for their colon, that can be an issue because the colon absorbs much of the water and salt that the body needs. And so if the child's colon is substantially shortened because of this disease, they may not easily get all the fluid and salt their bodies need. So you have to watch them, make sure they're drinking more fluids, watch their electrolytes.
It's something else or talked about last week. So here's the situation where a kid with asthma that I admitted for wheezing who doesn't look dehydrated. I still might want to check their electrolytes and their sodium and potassium level if they have a history of Hirschprung's disease.
OK. And then finally, I mentioned that Hirschprung's disease can lead to malnutrition and weight loss and also infections so those are other things that you have to think about. And in very young children, if they have malnutrition and weight loss from their Hirschprung's disease, some of these kids might even need a G-tube put in, the upper part of the small intestine in their stomach or in the duodenum which is the first part of the small intestine.
Remember how you got the duodenum and then the duodenum and then the ileum, remember when bringing back all kind of memories of the biology class, aren't I? So the G-tube, they may have to have that put in for two feedings to help them get nutrition to get past the acute part of the illness where they have a lot of nutrition issues and weight loss.
Alright, and how long do they have to have the tube feedings? Well, it depends on how severe the disease, the age of the child, what complications they're having. So there's all varieties of degrees of severity with Hirschprung's disease. All the way from toxic megacolon, large portion of the large bowel is lost, they have to have their ostomy for a long time.
And then you have the ones that gets through adulthood and they just have mild constipation because just some of the nerve cells to the sphincter there at the anus aren't there but some of them are and so it's very mild form. And again, those are the ones that do you really need to do anything for it.
OK, if you are interested in learning more about Hirschprung's, there's lots more about it especially with the whole genetic stuff that's going on right now, trying to figure out which genes are involved and that sort of thing. We've got links, Mayo Clinic has a good article on Hirschprung's and so does Lucile Packard Children's Hospital at Stanford. They have links to both of those in the Show Notes and then also the Hirschprung's and motility disorders support network. We'll have a link to that in the show notes us all.
Alright, we're going to take a break and then we'll be back to wrap things up right after this.
Alright. Thanks go out to Nationwide Children's Hospital for providing the bandwidth for our show. Also Medical News Today for helping out with the News Department. Vlad at Vladstudio.com for giving us the artwork and both at the website and at the feed. He's a wonderful artist from Russia. Make sure you check out his site, Vladstudio.com.
You can get prints for nursery walls too. I also like to thank the Blaggards-Stout Irish Rock for its use Drunken Sailor at the beginning of the show. We're also going to use it at the end. As I leave you, I'm going to play the whole song. So if you listen to this, it's still St. Patty's day. My last name is Patrick, by the way, if in case you didn't know that. So we're very Irish in the Dr. Mike home.
So anyway, if you want to hear more about the Drunken Sailor, we'll have that at the very end of the show for you. And also speaking of St. Patrick's Day and going green, don't forget don't think about paper or plastic; think about Skeeda and Skeeda bags. If you go to PediaScribe, the blog, the blogging arm of PediaCast, we have a contest there for you and you could win Skeeda bags of your own. We also have a discount code available for you as well. So check out the blog. There'll be a link in the Show Notes and you can check out the Skeeda contest.
The PediaCast shop is open for your convenience. We have t-shirts and other types of apparel. We don't get a kickback on that at all. Just really relying on the advertising to help spread the words. So I'm not making a dime off the t-shirts. You know it's one of these online places and it's one that's a little bit more expensive than others but I tried different t-shirts from different places online where you can order t-shirts and this one definitely had the best quality. So it's one of those things you get what you pay for. If you want something that's going to last you more than 10 washes, that's the kind of thing I would want. So we went with the nicer one but it is more expensive. So just because it's more it doesn't mean I'm making any money off of it, folks. So please support PediaCast by getting a t-shirt and wearing it proudly this spring and summer.
And I did mention that if you go on vacation, be sure to get a picture on your PediaCast t-shirt next to a famous landmark of some sort or another and we'll get your picture on the blog and on the Show Notes page and we'll have a contest and I'm thinking like a $100 Amazon gift certificate. That's what I'm thinking. We'll have like a random drawing of all the people who submit pictures over the spring and summer, maybe in the fall. We'll do that.
Reviews in iTunes are helpful. We have a poster page and of course, word-of-mouth, telling your friends and family, neighbors, co-workers, people at church, all those kind of things about the show. We're off to a good start this week. I know it's been a long show, but it St. Patrick's Day, do the green thing. Talk a little bit more about Pediascribe. So it's been a longer show, I apologize for that.
Although if you're still listening now, you've stuck around this long so I don't think you've minded either. And it's only Monday. I'm hoping to get another show out before the week is over. Plus the rant show and listener feedback show is coming along. I've been working on the script for that. So that might be out later this week or it might be next week.
Now the flu and strep are definitely lighter and my neck to the woods and spring is around the corner, life is good so we'll see. Alright, as I mentioned before, I'm going to leave you with the full version of the Irish pub song Drunken Sailor by the Blaggards-Stout Irish Rock.
I do want to warn you, it's an Irish pub song, OK. So you might not want to let your kids listen all the way to the end, OK. There's nothing too objectionable, but you've been warned. Until next time, this is Dr. Mike saying, "Stay safe, stay healthy and stay involved with your kids…. So long, everybody.