FAQ - hirschsprung disease
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Are there any genetic links between Hirschsprung's disease and other bowel disorders in siblings?


I'm aware that Hirschsprung's is (usually) diagnosed when a person is an infant, but am wondering if there are any links in say a sibling having Hirschsprung's and then their sibling developing another sort of disorder (such as IBS, Crohn's etc)?
thanks.
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Don't Worry ,
Till date no genetic link has been seen.  (+ info)

What are the long-term affects associated with Hirschsprung's Disease & surgery to correct it?


Other than constipation & short term affects (dilitation, irrigation), are there any long-term affects of Hirschsprungs Disease after a child has undergone a rectal pull-through surgery?
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The NIH says they lead a normal life, they just have some problems with dehydration and diarrhea because their large intestine is smaller than it normally would be, and infections can turn deadly because of the surgical scars. Good Luck.

http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/index.htm  (+ info)

Who has a son that has or had hirschsprung's disease?


The reason I want to know is because i have a son who has had this and I can help other concern mothers. Thank you. So if your child don't have it then don't answer
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I don't have a child with this. I'm not sure why you want or need the info, but thought the website below may help you.

http://www.hirschsprungs.info/  (+ info)

My brother and I have both had hirschsprung's disease I think I'm Pregnant.?


What are the chances my baby will Inherit hirschsprung's disease?
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The chances are obviously there, but still - that doesn't mean it could happen. However, the chances are more likely if the mother is the one with the illness and can pass it to her child.

That said, there are lots of things they can do to treat this illness, as I'm sure you know. Are you and your brother able to lead full, productive lives? There are ways they can diagnose and treat it very early, and I would guess that if your child did have it and had to have parts of the bowel removed, it would be all he or she would know from very early on and would just be a part of who they are. It doesn't make it an easier for you, though, I'm sure.

I once prepared IV solutions for a child with Hirschsprung's. He was on total parenteral nutrition as his main source of nutrition and even though he would have been able to have solid foods, his mother avoided them, causing strong aversions to solids in his case simply because he was not used to actually eating. From what I could tell, the pharmacist I worked with felt that the mother was unnecessarily shielding him with this illness when he could have gone to have quite a normal childhood, despite his condition. So anything's possible.

Try not to get too discouraged and definitely consult with your OB and a geneticist. Good luck to you.

http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/digest/hirschpr.html  (+ info)

Does anyone know any hirschsprung disease support groups?


Pull-thru Network
www.PullthruNetwork.org
Founded in 1988, Pull-thru Network (PTN) provides information, education, support and advocacy for families, children, teens and adults who are living with the challenges of congenital anorectal, colorectal and urogenital disorders (such as HD). Services for members includes a quarterly journal, email support group, message board on the website, weekly member chats, lending library, family assistance programs, regional and national meetings and conferences.
For more information please see the website or email [email protected].
Bonnie McElroy  (+ info)

Stem cells and Hirschsprung disease?


Is it theoretically possible to cure Hirschsprung disease, which is an absence of parasympathetic ganglion cells in the colon, with adult stem cells or embryonic stem cells? I know that Hirschsprung is supposed to result from the neural crest not developing properly, but I'm not really sure what the neural crest is and the difference between adult stem cells and embryonic stem cells.
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Embryonic stem cells can transform to any type of cell. This makes them able to transform into the cell the body needs (wherever they are put). The cells will communicate via impulses and "talk" to determine which type of cell it becomes. As far as curing Hirschsprungs Disease....I'm sure it is a possibility.

One major difference between adult and embryonic stem cells is their different abilities in the number and type of differentiated cell types they can become. Embryonic stem cells can become all cell types of the body because they are pluripotent. Adult stem cells are thought to be limited to differentiating into different cell types of their tissue of origin.

The neural crest is located between the neural tube and the epidermis of an embryo during neural tube formation.  (+ info)

what is the role of anal dilations after endorectal pullthrough in Hirschsprung's disease?


My son was born with HD and had the pull through surgery. We had to do anal dilation for a few months. We were told this was to help scar tissue from making the sphincter too narrow.
Hope this helps.  (+ info)

Hirschsprung's disease and pregnant?


I was wondering if anyone who has Hirschsprung's disease has been pregnant or knows much about it. I had a correctional surgery when I was 1 year old, have had NO problems since, now im 23 and pregnant.. just was thinking about it. thanks :)
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  (+ info)

what is the pathophysiology of hirschsprung's disease?


Doctor 678910... pls help me...
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Hirschprung's disease is a disease related to the intestines. Specifically, this disease is characterized by the loss of ganglion cells--nerve cells in the large intestine--in some parts of the large intestine, resulting in the non-movement of stool in the area without the nerve cells.

This is much like the esophagus and the peristaltic movement, which is an involuntary movement. Take away the involuntary movement, and the food will more likely be stuck in our esophagus instead of the food going down. In the case of the large intestine, without such peristaltic action due to loss of ganglion cells, the stool gets lodged in one area, and as more stool is moved towards the end of the large intestine, the more the stool gets stuck, causing constipation. If unchecked and untreated, the patient may get an infection and/or die from chronic intestinal poisoning.

This disease is considered to be a congenital one, even a prenatal one, since nerve cells differentiate during the stem cell differentiation stage. Non-formation of nerve cells in the intestines could have resulted from faulty cellular differentiation; the pathology of such an event is not completely clear, and genetic mutations could be implicated for the pathophysiology of this disease.

If you want more info, here's a good website:
http://digestive.niddk.nih.gov/ddiseases/pubs/hirschsprungs_ez/index.htm

Hope this helps!  (+ info)

Anyone heard of Hirschsprung Disease?


I need to know the symptoms of Hirschsprung Disease. I found some stuff, but it wont list symptoms it is a very rare and deadly disease that I do know. Thnx,
teri p
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Hirschsprung's disease (congenital aganglionic megacolon) is a birth defect in which nerve cells in the wall of the large intestine do not develop. These nerve cells, called ganglion cells, control the muscles in that area that normally push food and digestive waste through the large intestine. In Hirschsprung's disease, the muscles in the wall of the large intestine do not relax, which prevents waste from moving through the large intestine. This may lead to trapped stool, infection, inflammation, and constipation.

Hirschsprung's disease is diagnosed soon after birth in about 1 of every 5,000 newborns. It is more common in males than females.1

What causes Hirschsprung's disease?
The cause of Hirschsprung's disease is not known, but the disease tends to run in families (inherited). The incidence of the disease in relatives of those who have it is higher than in the general population.1

Hirschsprung's disease also may occur along with other medical conditions, such as Down syndrome and congenital heart disease.

What are the symptoms?
General symptoms of Hirschsprung's disease include a swollen abdomen and constipation. The newborn with Hirschsprung's disease may not pass the first stool (meconium) until at least 48 hours after birth. Other symptoms vary depending on the child's age, when the symptoms are recognized, the amount of intestine affected, and the presence of complications. These symptoms may include vomiting, having a poor appetite and refusing to eat, and not growing or gaining weight as expected.

How is Hirschsprung's disease diagnosed?
A health professional usually first suspects Hirschsprung's disease based on descriptions of your child's symptoms and the results of a physical examination. A rectal biopsy, abdominal X-ray, barium enema, and other tests may be done to confirm diagnosis.

Though Hirschsprung's disease is present from birth (congenital), it may not be diagnosed until months or years later. However, most children born with this disease are diagnosed within the first year of life.

In rare cases, an undiagnosed or untreated case can become life-threatening.

How is it treated?
Children with Hirschsprung's disease require surgery to remove the portion of the large intestine that has no nerve cells. The surgery is done soon after the diagnosis is made, often within the first days or month of life. After the surgery, the child may have recurrent constipation or leakage of stool from the rectum. Sometimes these complications require further treatment.

Many children will not have intestinal problems that last forever. But most have long-term (chronic) problems with stomachaches, constipation, or stool leakage (fecal incontinence). If long-term problems occur, they are usually mild. Depending on the nature of the problem, treatment may include medicine, behavior modification, biofeedback, cognitive behavioral therapy, or more surgery.

Emergency surgery may be needed if a dangerous problem occurs, such as Hirschsprung's-associated enterocolitis (HAEC), an inflammation of the small and large intestines.

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