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Hirschsprung's Disease Fact Book
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Hirschsprung's (HURSH-sprungz) disease, or HD, is a disease of the large
intestine. [Linked terms in bold type are explained in the
glossary below.]
 The large intestine is also sometimes called the colon. The
word bowel can refer to the large and small intestines. HD usually occurs
in children. It causes constipation, which means that bowel movements are
difficult. Some children with HD can't have bowel movements at all. The
stool creates a blockage in the intestine.
If HD is not treated, stool
can fill up the large intestine. This can cause serious problems like
infection, bursting of the colon, and even death.
Most parents feel frightened when they learn that their child has a
serious disease. This booklet will help you understand HD and how you and
the doctor can help your child.
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Normally, muscles in the intestine push stool to the anus,
where stool leaves the body. Special nerve
cells in the intestine, called ganglion
cells, make the muscles push. A person with HD does not have these
nerve cells in the last part of the large intestine.
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| Healthy large intestine: Nerve cells are found throughout
the intestine. |
HD
large intestine: Nerve cells are missing from the last part of the
intestine. |
In a person with HD, the healthy muscles of the intestine push the
stool until it reaches the part without the nerve cells. At this point,
the stool stops moving. New stool then begins to stack up behind it.
Sometimes the ganglion cells are missing from the whole large intestine
and even parts of the small intestine before it. When the diseased section
reaches to or includes the small intestine, it is called long-segment
disease. When the diseased section includes only part of the large
intestine, it is called short-segment disease.
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HD develops before a child is born. Normally, nerve cells grow in the
baby's intestine soon after the baby begins to grow in the womb. These
nerve cells grow down from the top of the intestine all the way to the
anus. With HD, the nerve cells stop growing before they reach the end.
No one knows why the nerve cells stop growing. But we do know that it's
not the mother's fault. HD isn't caused by anything the mother did while
she was pregnant.
Some children with HD have other health problems, such as Down's
syndrome and other rare disorders.
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In some cases, HD is hereditary, which means mothers and fathers could
pass it to their children. This can happen even if the parents don't have
HD. If you have one child with HD, you could have more children with the
disease. Talk to your doctor about the risk. 
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Symptoms of HD usually show up in very young children. But sometimes
they don't appear until the person is a teenager or an adult. The symptoms
are a little different for different ages.
Symptoms in newborns
Newborns with HD don't have their first bowel movement when they
should. These babies may also throw up a green liquid called bile after
eating and their abdomens
may swell. Discomfort from gas or constipation might make them fussy.
Sometimes, babies with HD develop infections in their intestines. 
Symptoms in young children
Most children with HD have always had severe problems with
constipation. Some also have more diarrhea
than usual. Children with HD might also have anemia,
a shortage of red blood cells, because blood is lost in the stool. Also,
many babies with HD grow and develop more slowly than they should.
Symptoms in teenagers and adults
Like younger children, teenagers and adults with HD usually have had
severe constipation all their lives. They might also have anemia. 
| Those with anemia look
pale and tire easily. |
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To find out if a person has HD, the doctor will do one or more
tests:
- barium enema (BAR-ee-um EN-uh-muh) x ray
- manometry (ma-NOM-eh-tree)
- biopsy (BY-op-see)
Barium enema x ray
An x ray is a black-and-white picture of the inside of the body. The
picture is taken with a special machine that uses a small amount of
radiation. For a barium enema x ray, the doctor puts barium through the
anus into the intestine before taking the picture. Barium is a liquid that
makes the intestine show up better on the x ray.
In some cases, instead of barium another liquid, called Gastrografin,
may be used. Gastrografin is also sometimes used in newborns to help
remove a hard first stool. Gastrografin causes water to be pulled into the
intestine, and the extra water softens the stool.
In places where the nerve cells are missing, the intestine looks too
narrow. If a narrow large intestine shows on the x ray, the doctor knows
HD might be the problem. More tests will help the doctor know for
sure.
Other tests to diagnose HD are manometry and biopsy:
Manometry
The doctor inflates a small balloon inside the rectum.
Normally, the anal muscle will relax. If it doesn't, HD may be the
problem. This test is most often done in older children and adults.
Biopsy
This is the most accurate test for HD. The doctor removes and looks at
a tiny piece of the intestine under a microscope. If the nerve cells are
missing, HD is the problem.
The doctor may do one or all of these tests. It depends on the
child.
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Pull-through surgery
HD is treated with surgery. The surgery is called a pull-through
operation. There are three common ways to do a pull-through, and they are
called the Swenson, the Soave, and the Duhamel procedures. Each is done a
little differently, but all involve taking out the part of the intestine
that doesn't work and connecting the healthy part that's left to the anus.
After pull-through surgery, the child has a working intestine.
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| Before surgery: The
diseased section is the part of the intestine that doesn't
work. |
Step 1: The doctor
removes the diseased section. |
Step 2: The healthy
section is attached to the rectum or
anus. |
Colostomy and Ileostomy
Often, the pull-through can be done right after the diagnosis. However,
children who have been very sick may first need surgery called an ostomy.
This surgery helps the child get healthy before having the pull-through.
Some doctors do an ostomy in every child before doing the
pull-through.
In an ostomy, the doctor takes out the diseased part of the intestine.
Then the doctor cuts a small hole in the baby's abdomen. The hole is
called a stoma.
The doctor connects the top part of the intestine to the stoma. Stool
leaves the body through the stoma while the bottom part of the intestine
heals. Stool goes into a bag attached to the skin around the stoma. You
will need to empty this bag several times a day.
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| Step 1: The doctor takes
out most of the diseased part of the intestine. |
Step 2: The doctor
attaches the healthy part of the intestine to the stoma (a hole in
the abdomen). |
If the doctor removes the entire large intestine and connects the small
intestine to the stoma, the surgery is called an ileostomy.
If the doctor leaves part of the large intestine and connects that to the
stoma, the surgery is called a colostomy.
Later, the doctor will do the pull-through. The doctor disconnects the
intestine from the stoma and attaches it just above the anus. The stoma
isn't needed any more, so the doctor either sews it up during surgery or
waits about 6 weeks to make sure that the pull-through worked.
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Ostomy
Most babies are more comfortable after having an ostomy because they
can pass gas more easily and aren't constipated anymore.
Older children will be more comfortable, too, but they may have some
trouble getting used to an ostomy. They will need to learn how to take
care of the stoma and how to change the bag that collects stool. They may
be worried about being different from their friends. Most children can
lead a normal life after surgery. 
| Nurses at the hospital
can teach you and your child how to care for a stoma and can talk to
you about your worries. |
Adjusting after pull-through
After a pull-through, 9 out of 10 children pass stool normally. Some
children may have diarrhea for a while, and babies may develop a nasty
diaper rash. Eventually the stool will become more solid and the child
will need to go to the bathroom less often. Toilet training may be
delayed, as the child learns how to use the bottom muscles only after
pull-through surgery. Older children might stain their underwear for a
while after the surgery. It is not their fault. They can't control this
problem, but it improves with time.
Some children become constipated because 1 in 10 children with HD has
difficulty moving stool through the part of the colon without nerve cells.
A mild laxative may also be helpful. Ask your doctor for suggestions.
Diet and nutrition
One job of the large intestine is to collect the water and salts the
body needs. Since your child's intestine is shorter now, it absorbs less.
Your child will need to drink more to make sure his body gets enough
fluids.
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| Drinking plenty of
liquids is important after surgery for
HD. |
An infant who has long-segment disease requiring an ileostomy may need
special tube feedings. The shortened intestine does not allow the
bloodstream enough time to absorb nutrients from food before it is pushed
out of the body as stool. Tube feedings that deliver nutrients can make up
for what is lost.
Eating high-fiber foods like cereal and bran muffins can help reduce
constipation and diarrhea.
Infection
Infections can be very dangerous for a child with Hirschsprung's
disease. Infection of the large and small intestines is called
enterocolitis (EN-tuh-ro-ko-LY-tis). It can happen before or after surgery
to treat Hirschsprung's disease. Here are some of the signs to look
for:
- fever
- swollen abdomen
- vomiting
- diarrhea
- bleeding from the rectum
- sluggishness
Call your doctor immediately if your child shows any of these signs. If
the problem is enterocolitis, your child may be admitted to the hospital.
In the hospital, an intravenous (I.V.) line may be needed to keep body
fluids up and to deliver antibiotics to fight the infection. The large
intestine will be rinsed regularly with a mild salt water solution until
all remaining stool has been removed. The rinse may also contain
antibiotics to kill bacteria.
When the child has recovered from the infection, the doctor may advise
surgery. If the child has not had the pull-through surgery yet, the doctor
may prepare for it by doing a colostomy or ileostomy before the child
leaves the hospital. If the child has already had a pull-through
operation, the doctor may correct the obstruction with surgery.
Enterocolitis can be life threatening, so watch for the signs and call
your doctor immediately if they occur.
Long-segment HD
Sometimes HD affects most or all of the large intestine, plus some of
the small intestine. Children with long-segment HD can be treated with
pull-through surgery, but there is a risk of complications such as
infection, diarrhea, and diaper rash afterward. Parents need to pay close
attention to their child's health. Also, since some, most, or all of the
intestine is removed, drinking a lot of fluid is important.
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- HD is a disease of the large intestine.
- HD develops in children before they are born. It is not caused by
anything the mother did while pregnant.
- Symptoms of HD include
- delayed first bowel movement in newborns
- swollen abdomen and vomiting
- constipation since birth
- slow growth and development
- anemia
- Children with HD may get an infection, called enterocolitis, which
can cause fever and diarrhea.
- HD is a serious disease that needs to be treated right away. HD is
treated with pull-through surgery or, sometimes, ostomy.
- After treatment, most children with HD lead normal
lives.
Keeping on Top of Your Condition
Keeping in tune with your disease or condition not only makes treatment less intimidating but also increases its chance of success, and has been shown to lower a patients risk of complications. As well, as an informed patient, you are better able to discuss your condition and treatment options with your physician.
A new service available to patients provides a convenient means of staying informed, and ensures that the information is both reliable and accurate. If you wish to find out more about HealthNewsflash's innovative service, take the tour.
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You can get more information about HD from these groups:
International Foundation for Functional Gastrointestinal Disorders,
Inc. (IFFGD)
P.O. Box 170864
Milwaukee, WI 53217-8076
Phone:
1-888-964-2001
Email: iffgd@iffgd.org
Internet: http://www.iffgd.org/
International Foundation for Functional Gastrointestinal Disorders,
Inc. (IFFGD) Pediatric
158 Pleasant Street
North Andover, MA
01845-2797
Phone: 1-800-394-2747 or (978) 685-4477
Email: iffgd@iffgd.org
Internet: http://www.aboutkidsgi.org/
Pull-thru Network
2312 Savoy Street
Hoover, AL
35226
Phone: (205) 978-2930
Email: pullthru@bellsouth.net
Internet:
http://www.pullthrough.org/
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Abdomen (AB-duh-men): The area between the chest and the hips in
the front of the body.
Anemia (ah-NEE-mee-ah): Not enough red blood cells in the
blood.
Anus (AY-nus): The opening at the end of the large intestine.
Stool leaves the body through this opening.
Colostomy (koh-LAW-stuh-mee): Surgery to connect the colon to a
hole in the abdomen.
Diarrhea (DY-uh-REE-ah): Loose, watery stool.
Ganglion (GANG-li-on) cells: A type of nerve cell involved in
moving stool through the large intestine. A person with HD is missing
these cells from part of the large intestine.
Ileostomy (il-ee-AW-stuh-mee): Surgery to connect the bottom of
the small intestine (ileum) to a hole in the abdomen.
Large intestine (in-TESS-tin): A long tube that makes stool and
carries it out of the body.
Nerve cells: Nerves are long fibers that carry messages from the
body to the brain, and back again, like telephone lines. The messages
often tell a body part what to do. Nerve cells are part of nerves. In the
intestine, the nerve cells tell muscles how to push the stool along.
Ostomy (OSS-tuh-mee): Surgery to connect part of the intestine
to a hole in the abdomen.
Rectum (REK-tum): The last section of the large intestine.
Stoma (STO-mah): A hole on the outside of the body, made by
surgery. Stool leaves the body through the hole, instead of through the
anus.
Stool: Solid waste from the body. The material that gets passed
in a bowel movement.
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