What is Hirschsprung's Disease?

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Hirschsprung's Disease is a congenital condition which can cause extreme constipation, pain, and fatal intestinal blockage. Anemia, bloody stools and diarrhea may also be noted with the condition. Surgery, though intensive, can treat the causes and most children with Hirschsprung's Disease lead normal lives after surgery.

Hirschsprung's Disease manifests as a lack of appropriate nerve cells in the large intestine or colon. When the body cannot sense that the colon is full with waste products, the intestine can back up. In infants this may be seen as infrequency of bowel movements, which may be accompanied by painful spasms. Because of larger bowel movements, the sensitive skin around the anus can tear, causing blood in the stool. Blood may also pool in the large intestine.

Hirschsprung's Disease is often difficult to diagnose in infants who are formula fed. Sensitivities to ingredients in formula often result in constipation and painful stomachs. Often several formulas must be tried before finding one that is readily digestible. Formula, though used by many parents, cannot replicate the ease of digestibility associated with human breast milk.


Children with Hirschsprung's Disease who are exclusively breastfed are likely to receive earlier diagnosis because theoretically, nothing should interfere with the infant’s digestion and passage of bowel movements while on breast milk. In breastfed babies, bowel movements are usually quite soft and may occur several times daily. Lack of bowel movements should be noted to the pediatrician as this may also signify fail to thrive, or other intestinal disorders.

In some cases, even with breastfed children, a diagnosis of Hirschsprung's Disease is delayed because the breast milk can be affected by the mother eating certain foods to which the infant might be sensitive. In these cases, the presence of constipation in an infant may first be relieved by removing foods from the mother’s diet that might result in allergies in the infant. Foods like milk, chocolate, and coffee can all be suspect.

When allergenic foods are removed and constipation is still present, pediatricians may refer the infant to a pediatric gastroenterologist for further testing. The most common testing methods employed are barium x-ray and cell biopsy. Cell biopsy, though more invasive, is the gold standard test because the physician can note the absence of nerve cells and confirm Hirschsprung's Disease.

The normal treatment for a person with Hirschsprung's Disease is called a pull through surgery. The non-functioning part of the intestine is removed and the areas of the intestine with normal cells are rejoined. This results in a healthy intestinal tract and has a high rate of success.

Occasionally, children have developed significant infection in their large intestine prior to the pull through surgery and must undergo an ostomy. In this procedure, the infected portion of the intestine is first removed, and fecal matter collects in a bag outside the body. This procedure is usually temporary, and when the child regains health and strength, he or she will undergo the pull through.

Children who have not had an early diagnosis of Hirschsprung's Disease are at greater risk for life-threatening infections. They also may exhibit poor growth and development, and may vomit bile more frequently than healthy children. Symptoms of infection can include increased vomiting, diarrhea and high fever. If Hirschsprung’s Disease is suspected, such symptoms require immediate medical attention.


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Post 14

My son is 8. His new consultant has suggested Hirschprung's, but told me that Bristol Hospital, UK often refuses to investigate older children. Has anyone had the experience of being referred to this hospital as an older child?

My son didn't pass meconium for two weeks, would not feed and lost a lot of weight and became very jaundiced. He wouldn't poo for weeks at a time and when he did, he'd scream and scream trying to pass something, often laced with blood. Since then, he's been at the two extremes of being constipated, with overflow or hard powder poo which has a foul smell, and liquid diarrhea due to using constant laxatives. He's never passed a normal poo. He's

fecally incontinent, which is hell for a boy of his age. He's constantly anxious about the next time he'll soil, can't go to friends' houses alone or groups where I have to leave him. This raises all sorts of questions with other children.

He tells me he's rubbish, stupid and wants to die, often while I try to comfort him through uncontrollable crying. Someone please tell me that Bristol isn't as likely to refuse him as I've been told. I've written them a letter which I am sending tomorrow in the hope they'll see that the distress caused by the procedures are less than the distress he's suffering now. And is there anyone else that has experienced this at this age and what can I do if they say no?

Post 13

I am 29 and have had problems pooping since birth but was never diagnosed. I am sure that is what's wrong with me. I was allergic to milk and was a very sick baby, unable to gain weight. I still have that problem as an adult.

Every time I poop, I wipe blood. I have tried everything and nothing seems to work from enemas to laxative pills. Drinking chocolate milk helps make me go, but I can't do it all the time, because then I will have diarrhea and won't be able to get that under control. It's a no-win situation for me.

Post 12

My daughter has an issue with pooping, and she has had this since she was born. It seems when she does they are hard as balls and look like adult stools to me. She strains very hard when pooping her ped put her on Mirilax which helps, but she still can go weeks without pooping.

He did an x-ray of her stomach and it was full of poop and her colon was swollen. When she was born, they told us she was allergic to milk because she would throw up everything she ate so she was switched to soy, which she keeps down. Could this disease be something she has?

Post 11

I was diagnosed with hirschsprung's before I was a year old; I am turning 21 Friday. I went through many surgeries and I believe they took out part of my large intestine.

For the most part, I have lived a normal life, but here's what scares me. Since the age of around 3, I have not had any follow up intestinal exams. Ever since I can remember, I have always had bowel movements ranging from soft to straight liquid; presumably because the large intestine absorbs water and part of mine was removed.

I have also always been a skinny guy, currently weighing 135. None of this rang any alarm bells, but lately I have been having more and more stomach

pains with irregular oily bowel movements. I have also been getting these feelings like I'm going to pass out, and have passed out a couple of times. I can also chalk loss of appetite on my list of growing symptoms.

I am calling my doctor A.S.A.P. to schedule some tests and possibly a lower G.I. scope.

Post 10

@ post no. 8: Just read you post and i seriously would ask for her to be tested for hirschsprung's. i have three boys and two of them have hirschsprung disease. My four year old is still having problems with control and stomach pains and may be having more surgery and my five month is on suppositories and a dilator.

I am a member of a hd group on facebook which is fab. I've gotten to know loads of hd mummies who help with anything i am unsure about.

I find in most people's experience, because hirschsprung's is not talked about and not well known to most, that nobody suspects this in children. Every time i take my boys to

the doctors, they ask about scars from surgery and when i say they were born with hirschsprung's, they look at me and ask me to explain what it is.

I have to admit that, before my eldest was born with it, I never knew anything about it but it is more common than you think. The number of people i have met thanks to the group and their children who have hd is unbelievable. I never knew so many children had it. But i seriously would have your little on tested for hd just to be on the safe side.

Post 9

Just wanted to share that my 12 year old daughter was diagnosed with Hirschsprung's as a newborn. She had two surgeries and has really been a normal, active, healthy child her whole life. She's a star on her soccer and track teams.

We had so many worries when she was little, but everything has been fine. However, I've just (possibly) linked the fact that she has frequent sprained ankles and other muscle problems to a possible magnesium deficiency (due to lack of appropriate absorption of nutrients via her missing a much of her large intestine).

We're going to get her on magnesium supplements and be a bit more aware that Hirschsprung's could be impacting her in ways we didn't think.

Post 8

My son is one. He had surgery for this but still i don't think his bowl movements are normal! Since he has had his operation should it all be normal now?

Post 7

My nephew was born in December and was diagnosed with Hirschsprung's disease a couple of days later. He wasn't eating and his and was extended. He wouldn't really respond to you or anything.

They moved him from one hospital to a more experienced one and then discovered he had Down Syndrome as well. They are in the process of doing a biopsy 12/9 and are hoping to arrange surgery in the next week or so. The parents of this baby are just devastated. they had no idea anything like this would happen. They have a 2nd grader so this is their 2nd child. Definitely has turned their lives upside down for sure. I feel for them.

Post 6

I think that if you are having these problems, you should have your daughter tested. I am having my son tested with the barium enema today. He is almost six months and been experiencing problems for months.

We are solely breast fed until recently they told me I need to supplement to up the calorie content. He wasn't transferring enough milk. I have a thyroid condition. Personally, if you have enough milk, I wouldn't supplement. Go to a mom's place in your area, and have your milk tested for the caloric properties.

I had mine tested and I have 32 calories per ounce. Formula only has 20, so if you have plenty of milk there is no need to supplement. Doctors don't know much about breast milk and breast feeding, they only know what they can test. Breast milk changes to suit the needs of the individual baby.

Post 5

My son was diagnosed with hirschsprung's two weeks after birth. Symptoms were immediate, but it was still hard to diagnose. He failed to pass stool within the first 24 hours, and after he ate he would throw up throw mouth and nose.

He was taken into the icu where he did a barium enema, he failed to move the contrast through for 72 hours. He was transferred to the medical center where he started to get distended and was in a lot of pain, the doctors did a full thickness biopsy to test for ganglion cells and trunk cells neither were present.

He was scheduled for surgery since he developed colitis and the doctors needed to divert pressure and stool

from his large intestine. While in surgery they did a full thickness biopsy to see how much of the colon was affected. He has midsection hirschsprung's which they rarely see, its typically short or long section.

He will have a second surgery to pull down his ostomy and reattach to his anus. Hirschsprung's is really rare and its extremely difficult having a baby with an ostomy, but he will get better and live a normal life.

If you think your child might have hirschsprung's, definitely bring it up to your doctor to have the biopsy done. If some stool passes from your child it's typically short section hirschsprung and they are able to do the pull through during the full thickness biopsy. Hope this helped.

Post 4

i have a two year old daughter. she has not fed properly since she was born. She has no interest in food

She has had all the allergy tests and all were negative, had a colonoscopy and endoscopy which came back with some raise in her stomach glands. They took biopsy but not sure what they tested for.

She has chronic constipation and is on four laxatives and we are back on a milk free diet to see if she improves.

She weighs just 20lbs only put 1lb50z in a year. Could she have this disease? help needed! please.

Post 3

Hmmm. Reading this has started alarm bells for me. We went to the pediatrician today because my eight month old daughter is only having a bowel motion every eight or nine days and screaming with pain while she's doing it, with blood as well.

No amount of diet-tweaking has made any difference, nor laxatives or stool-softeners. She's fully breastfed. We've resorted to suppositories under guidance. She did pass meconium normally in the hospital, which is something. She's being tested for Hirschsprung's in the next fortnight.

It's horrible to think of anything being wrong/risks of surgery etc. Hirschsprung's is very rare, which is also reassuring.

Post 2

I just read your post and please, please, please get your daughter tested for Hirschsprung's and don't wait for them to suggest it.

I won't go in to all of the reasons but it's better to know and then decide what you want to do about it, than not to know and it be too late. If your daughter was diagnosed with down syndrome, it's even more imperative that you have her checked as Hirschsprung's is more common among children diagnosed with down syndrome.

I imagine you've already met with the GI specialist. I'm wishing you well and lots of peace and strength!

Post 1

This article is one of the more brilliant and concise articles I've found regarding this condition. I have been searching for more info about the disease because I am fairly certain my two month old daughter is suffering from it. Tell me what you think:

She did not pass meconium until 48 hours after birth (and even then, it took three days to pass all of it). She has gained weight very slowly (only 1 1/2 pounds since birth nine weeks ago) and remains below 0 percentile on the growth charts; she has cycled through severe diarrhea and constipation since birth; she has now settled into complete constipation, and has not had a bowel movement in ten days

. She has experienced bloody stools, and has been diagnosed with reflux (due to constant, copious spitting up). Only thing missing is the noticeably distended abdomen, but in the past few days, she is starting to look abnormally large around her midsection, compared to her skinny extremities. She is breastfed, but we have had to supplement with formula (soy based) to help with her weight gain.

We are seeing a pediatric GI specialist on Wednesday, but for now... Hard not to expect the worst.

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