Hirschsprung disease

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If Hirschsprung disease involves nerve cells, does that mean that a person with Hirschsprung disease will have intellectual disability?

Hirschsprung disease only affects the nerve cells in the colon, not in the brain, so people with the disease usually have normal intellectual capacity. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. The exception to this is if an individual has Hirschsprung Disease as part of a genetic syndrome that includes intellectual disability. A genetic syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality. If you are concerned that you or your child may have Hirschsprung disease as part of a syndrome that includes intellectual disability speak with your or your child's physician further diagnosis.

References
  • "Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies
  • "Hirschsprung Disease Overview" GeneReviews. 01 Oct. 2015. Web. 14 Jun. 2016. http://www.ncbi.nlm.nih.gov/books/NBK1439/
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How does the diagnostic biopsy for Hirschsprung disease work?

If a person with Hirschsprung Disease is chronically constipated after corrective surgery, how is that treated?

What risks are involved in surgery for Hirschsprung Disease?

How does the surgery for Hirschsprung disease work?

When will my child be able to come home after the surgery for Hirschsprung disease?

What is the risk of a person with Hirschsprung disease having a child with the disease?

What is my risk of having another baby with Hirschsprung Disease if I've already had a child with Hirschsprung Disease?

What should I expect after a colostomy or ostomy for Hirschsprung Disease?

What should I expect after having the "pull-through" procedure for Hirschsprung Disease?

What kind of diet is best after having the "pull-through" procedure for Hirschsprung Disease?

Is there any chance that a child with Hirschsprung Disease will pass away?

How does the diagnostic biopsy for Hirschsprung disease work?

The colon biopsy to diagnose Hirschsprung disease is normally done without anesthesia and has minor complications, including bleeding or tearing of the rectum. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. The rectum is the final portion of the large intestine that connects to the anus. Before the biopsy procedure, it is necessary to clear the colon via laxative or enema. The doctor will insert an instrument into the rectum, which may be uncomfortable. They will then remove a small piece of the colon to examine. If nerve cells are not found in the sample, it means the patient has Hirschsprung disease. To learn more about the biopsy procedure speak with the physician who will be performing the procedure on you or your child.

References
  • Zillur Rahman, Jafrul Hannan, Saiful Islamhttp; "Hirschsprung’s disease: Role of rectal suction biopsy - data on 216 specimens". J Indian Assoc Pediatr Surg. 2010 Apr-Jun; 15(2): 56–58. www.ncbi.nlm.nih.gov/pmc/articles/PMC2952777/
  • https://www.nlm.nih.gov/medlineplus/ency/article/003891.htm
If a person with Hirschsprung Disease is chronically constipated after corrective surgery, how is that treated?

If someone with Hirschsprung disease is experiencing constipation after surgery, contact their doctor. They may need a laxative or rectal therapies. It also may help to increase fiber in the diet.

References
  • http://www.aafp.org/afp/2014/0715/p82.html
  • "Hirschsprung Disease" National Institute of Diabetes and Digestive and Kidney Diseases. Jul. 2013. http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/hirschsprung-disease/Pages/ez.aspx
What risks are involved in surgery for Hirschsprung Disease?

A surgeon should discuss specific risks of the surgery and post-surgery care with the person or parents of the child undergoing surgery for Hirschsprung disease before they do the surgery. This is a great time to discuss complications and possible therapies for those complications. After surgery, the patient is at risk and should be monitored for an inflamed colon and for infection. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. Signs of infection include fever, vomiting, large abdomen, and less energy. There is also a risk that the colon will tear or rupture. As with any surgery, there is a risk of bleeding.

Depending on how much of the colon is removed, the patient may have short bowel syndrome. Because the bowel or colon is shorter, the patient may not be able to absorb as much fluid and nutrients as before. If the patient does not consume more water and food, they may become malnourished or dehydrated.

About 5% of people who have this surgery will experience severe incontinence or constipation.

References
  • "Hirschsprung's disease" Medline Plus. 04 Dec. 2013. https://www.nlm.nih.gov/medlineplus/ency/article/001140.htm
  • http://www.cedars-sinai.edu/Patients/Programs-and-Services/Pediatric-Surgery/Treatment/Treating-Hirschsprungs-Disease-Colonic-Aganglionosis.aspx
How does the surgery for Hirschsprung disease work?

When surgery is completed to treat Hirschsprung disease most of the time the surgeon will remove the part of the colon (the last part of the digestive system that transports digested food and liquid from the small intestine to the rectum), that does not have nerves and reconnect to the healthy part to the rectum that does have nerves. This is called a "pull-through" procedure. However, if a child has more severe symptoms, it might be necessary to have an additional procedure before the "pull-through" surgery. This is called a colostomy or ostomy. The unhealthy part of the colon will be removed, and the healthy part will be connected to the abdomen to form a stoma, or opening to the outside, allowing the patient to release stool. This surgery is temporary and the child will later require the "pull-through procedure. Both surgeries are done under general anesthesia. To learn more about these surgeries speak with your or your child's physician or ask for a referral to a surgeon who regularly performs these surgeries.

References
  • "Hirschsprung Disease" National Institute of Diabetes and Digestive and Kidney Diseases. Jul. 2013. http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/hirschsprung-disease/Pages/ez.aspx
  • Wesson, David. "Congenital aganglionic megacolon (Hirschsprung disease)" UpToDate. May 2016. Web. 14 Jun. 2016. http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease?source=search_result&search=Hirschsprung%E2%80%99s+Disease&selectedTitle=1~66
When will my child be able to come home after the surgery for Hirschsprung disease?

The time that your child will be able to come home after surgery for Hirschsprung disease varies by surgeon and hospital, but a child will usually be able to go home when they are eating normally, going to the bathroom normally, and do not have a fever. Speak with your child's surgeon about when your child will be able to leave the hospital or surgery center.

References
  • http://www.chop.edu/conditions-diseases/hirschsprung-s-disease#.VnwwHVKrQfp
What is the risk of a person with Hirschsprung disease having a child with the disease?

Hirschsprung disease can either be isolated or syndromic. Isolated Hirschsprung disease is found in a child or infant who does not have other serious health conditions. Isolated Hirschsprung disease can be sporadic, meaning the cause is unknown, or can be inherited, meaning a specific gene change is causing Hirschsprung disease. Genes are the basic unit of heredity. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body.

If Hirschsprung disease is inherited, it can be inherited in an autosomal dominant or autosomal recessive pattern. Autosomal dominant means that a person only needs one copy of the affected gene from a single parent to have Hirschsprung disease. If a parent has a gene change causing autosomal dominant Hirschsprung disease there is a 50% chance it will be passed to each child causing the child to have Hirschsprung disease. Autosomal recessive means a person must have two copies of an affected gene, one from mom and one from dad, in order to have the condition. If each parent carries a gene change causing autosomal recessive Hirschsprung disease there is a 25% chance that each child will have Hirschsprung disease. The type of inheritance depends on the gene.

In some children and infants Hirschsprung disease is part of a larger syndrome. A genetic syndrome is a group of signs and symptoms that occur together and characterize a particular abnormality. Some syndromes that can include Hirschsprung disease are Waardenburg syndrome, Mowat-Wilson syndrome, congenital central hypoventilation syndrome and Down syndrome or Trisomy 21. These conditions may have other inheritance patterns and risks for having Hirschsprung disease.

To learn more about inheritance of Hirschsprung disease speak with your physician or a genetic counselor. To locate a genetic counselor near you use the Find a Genetic Counselor tool on the National Society of Genetic Counselors website.

References
  • "Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies
  • "Hirschsprung Disease Overview" GeneReviews. 01 Oct. 2015. Web. 14 Jun. 2016. http://www.ncbi.nlm.nih.gov/books/NBK1439/
What is my risk of having another baby with Hirschsprung Disease if I've already had a child with Hirschsprung Disease?

The risk of having another baby with Hirschsprung disease after already having had one child with Hirschsprung disease depends on the cause. If a dominantly inherited gene is the cause, then there is a 50% chance of passing it on to each child conceived. If a recessive gene is the cause, then a person and their partner have a 25% chance of passing Hirschsprung disease to each child. Genes are made of DNA and are instructions to make proteins and molecules inside the cells that make up the body.

If Hirschsprung disease is sporadic or syndromic, check with your genetics team on the risk of having another child with Hirschsprung disease. If the cause is unclear, then the risk of the next child having Hirschsprung disease is increased from the general population. Check with your healthcare team to find out your individual risk.

References
  • "Hirschsprung’s Disease" National Organization for Rare Disorders. 2005. https://rarediseases.org/rare-diseases/hirschsprungs-disease/#standard-therapies
  • "Hirschsprung Disease" National Institute of Diabetes and Digestive and Kidney Diseases. Jul. 2013. http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/hirschsprung-disease/Pages/ez.aspx
What should I expect after a colostomy or ostomy for Hirschsprung Disease?

After surgery for Hirschsprung disease gas and stool are no longer trapped in the colon, and there is usually a sense of relief. The colon, or large intestine, is the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum. For older children who have an ostomy, a procedure that involves removing part of the colon and reconnecting the colon to the abdomen, the opening in their abdomen may be embarrassing and make them feel different from their friends. They will also have to learn how to care for the opening and manage the pouch it empties into. There are special nurses called ostomy nurses that can help. Speak with your child's physician about helping your child to manage their ostomy or for a referral to an ostomy nurse in your area.

References
  • "Hirschsprung Disease" National Institute of Diabetes and Digestive and Kidney Diseases. Jul. 2013. http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/hirschsprung-disease/Pages/ez.aspx
What should I expect after having the "pull-through" procedure for Hirschsprung Disease?

The "pull-through" procedure for Hirschsprung disease involves removing the part of the colon (the last part of the digestive system that transports digested food and liquid from the small intestine to the rectum), that does not have nerves and reconnecting it to the healthy part to the rectum that does have nerves. People that have had this procedure will have to learn how to use their rectum. During this time, it is common to have leakage. They also may have diarrhea after surgery, but the stool should become harder. Younger children may get diaper rash. Speak with your or your child's physician or surgeon to learn about what to expect after surgery.

References
  • "Hirschsprung Disease" National Institute of Diabetes and Digestive and Kidney Diseases. Jul. 2013. http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/hirschsprung-disease/Pages/ez.aspx
What kind of diet is best after having the "pull-through" procedure for Hirschsprung Disease?

The best kind of diet to have after surgery for Hirschsprung disease would be a question to discuss with your doctor or nutritionist. Often those who had long-segment Hirschsprung disease will need to drink more water. Because a large segment of the colon is missing, the body will not be able to absorb as much fluid as before. Extra water will help the body hydrate like before the surgery. In addition, eating lots of fiber will help with digestion and clearing the stool, which reduces diarrhea and constipation. In babies, it may be necessary to insert a tube through the nose or through an opening in the abdomen. This takes food directly to the stomach.

References
  • "Hirschsprung Disease" National Institute of Diabetes and Digestive and Kidney Diseases. Jul. 2013. http://www.niddk.nih.gov/health-information/health-topics/digestive-diseases/hirschsprung-disease/Pages/ez.aspx
Is there any chance that a child with Hirschsprung Disease will pass away?

In someone with Hirschsprung disease, if surgery is not performed soon enough, the colon (the last part of the digestive system and transports digested food and liquid from the small intestine to the rectum), can become very enlarged and rupture. This can be very dangerous and if not treated can cause someone to die. This is why Hirschsprung disease almost always requires surgery. The most common cause of death in young people with Hirschsprung disease is enterocolitis, or infection of the intestines. It important to look out for signs of infection, such as fever, vomiting, less energy, and a large belly. If you are concerned that you or your child are experiencing any of these symptoms contact your physician right away.

References
  • http://www.cedars-sinai.edu/Patients/Programs-and-Services/Pediatric-Surgery/Treatment/Treating-Hirschsprungs-Disease-Colonic-Aganglionosis.aspx
  • Frykman PK, Short SS; "Hirschsprung-associated enterocolitis: prevention and therapy". Semin Pediatr Surg. 2012 Nov;21(4):328-35. doi: 10.1053/j.sempedsurg.2012.07.007.

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