Information Overload!!!

 


 Newsflash, it's 2015! Like most parents, as soon as "hirschprung" was said, Alyssa and Jake typed it into google and clicked and read everything they could find.  







Some of it was inspiring.  Some of it was confusing.  A lot of it was scary.  

Children had died.  Children had ostomies for life. There was SO. MUCH. POOP.

But what resources are easy to understand? And which can be trusted?

Alyssa and Jake found the Mayo Clinic's website to be very helpful.  It was a name they knew and trusted.  The information was easy to understand and the graphics were helpful without being too... graphic.   


They also found many, many, many blogs detailing people's personal experiences or their experience as parents. But many of them were outdated or anecdotal.  However, they found one blog following a child from diagnosis through early childhood (and ongoing...) called Roo's Journey that they thought was really well done. 



Alyssa & Jake found a lot of information-- good, bad & in between. But most importantly, they found hope.







Mayo clinic HD page: http://www.mayoclinic.org/diseases-conditions/hirschsprungs-disease/basics/definition/con-20027602  

Roo's Journey: https://roosjourney.wordpress.com/ 

info overload image: http://www.danadorsi.com/wp-content/uploads/2015/01/information-overload.jpeg 

mayo clinic image: https://pbs.twimg.com/profile_images/489129767891783680/QKA-tOnf.jpeg

Caleb Loves His Nurses!

As first time parents, Alyssa & Jake felt quite overwhelmed with everything that had happened in Caleb's short life.  They were so grateful for all the medical staff that had been there not only for Caleb, but for them as well. They had spent so much time in the hospital that it began to feel like home.

They were happy with the doctors of course, but they really appreciated all the time that the nurses spent with Caleb that allowed them to take a shower, run

to Starbucks for coffee, or even take a nap from time to time. They knew that in addition to loving on Caleb, they were constantly assessing him.  Some of the things they were concerned about are listed below:


Nursing Diagnoses

• Pain r/t constipation and/or surgery
• Imbalanced nutrition: less than caloric demands
• Knowledge deficit related to colostomy procedure & disease process
• Risk for infection following surgery

Nursing Interventions

• Anticipate and treat pain as ordered with medication and non-pharmacologic methods
• Implement the dietary regimen to provide for the child’s nutritional needs
• Educate the parent or caregiver how to provide care for the child before and after the colostomy
• Monitor the stoma or wound site for signs of infection as well as monitoring the child for s/s of infection

Nursing info from: http://www.istudentnurse.com/peds/hirschsprungs/ 
Image from: https://cameronmoms.files.wordpress.com/2011/10/nurse-with-baby.jpg

He needs an osto... what???

After confirming Caleb's diagnosis of Hirschsprung Disease, the doctor explained the treatment to his parents. As they had learned, part of Caleb's colon had no nerve cells.  This part of the colon would need to be removed. 

Caleb would have surgery to remove the part of his colon that wasn't working an the doctor would create an ostomy. In this procedure, the upper part of the colon is attached to the abdominal wall.  This type of ostomy is called a colostomy.  In a colostomy, the stool leaves the colon through the abdominal wall and drains into an ostomy bag. 

This is what an ostomy looks like from the outside, and what's going on inside:

Many patients and families are initially nervous about this, but learned that caring for an ostomy isn't that difficult! 

Most children have the ostomy for several months or up to a year, and then they are able to have the upper end of their colon reconnected to the lower end. This is called a pull through procedure and it is very successful for many children! Caleb's doctor was confident that Caleb would be a good candidate for a pull through procedure once he was older.  However, in some children an ostomy is a permanent part of their life.  










http://nursingcrib.com/wp-content/uploads/colostomy.gif

What Does Hirschsprung Disease Look Like for Others?

Caleb's parents knew what symptoms he had, but they wondered about others with Hirschsprung Disease.  Does everyone develop symptoms in infancy? Can it affect older people?


They found out that all people are affected from birth and most people experience symptoms right away, but this is not always the case.  Symptoms depend on the age of the child and can include:

• A swollen belly.

• Problems passing stool. Newborns with the disease may not pass their first stool until at least 48 hours after birth.

• Vomiting.

• Not wanting to eat.

• Constipation.

• Not gaining weight or growing

This short video gives another description of Hirschsprung Disease and some common symptoms

 

Info from: http://www.webmd.com/children/tc/hirschsprungs-disease-topic-overview

How Do We Know it's Hirschsprung Disease?

Could it be something else? Alyssa and Jake hoped that the doctors were wrong. Caleb must be ok.  How would they know for sure it was Hirschsprung Disease?

First, the doctors wanted to see what was going on inside Caleb's belly, so they took an xray.  It showed that part of his colon was swollen. This was indicative of Hirschsprung Disease, but more tests were still necessary. 

"Caleb's Abdominal X-Ray"

 The doctors told Caleb's parents they also needed to do something called a contrast enema to get a better picture of his colon.  For this, they put a dye into his rectum that would make his colon show up better on xrays. The contrast enema was also indicative on HD, showing an enlarged upper section of colon, with the lower segment looking very thin. 

Caleb's Contrast X-Ray

 The last test was called a suction biopsy.  The doctor would take a sample of Caleb's colon tissue and examine it for nerve cells. Alyssa & Jake were assured that this wouldn't hurt.  


It was the final test, and it showed no nerve cells. Caleb was officially diagnosed with Hirschsprung Disease at 6 days old.

How is Hirschsprung Diagnosed?

xray pic from: http://img.medscape.com/pi/emed/ckb/radiology/336139-409150-6930.jpg
contrast xray: http://img.medscape.com/pi/emed/ckb/radiology/336139-409150-6939.jpg

info from: https://go.cincinnatichildrens.org/service/hirschsprung/about.php?gclid=Cj0KEQjwmLipBRC59O_EqJ_E0asBEiQATYdN
h_HlfsRWa3LVyaHwKnsM5kg_P_6eHR9bqA9Q_w8VFCYaAjon8P8HAQ

How Does This Happen...?

Alyssa and Jake knew that Hirschprung Disease didn't run in their families, so it was likely a sporadic genetic mutation. But how and when did it happen?




As we know, Hirschsprung disease results from the absence of nerve cells within the colon. During embryonic development, nerve cells inside the neural tube migrate downward toward to colon. These cells typically complete this migration by 12 weeks gestation. If the nerve cells fail to migrate through the entire colon to the end of the rectum, it results in clinical Hirschsprung disease.  

As the above image shows, the colon preceding the section lacking nerves becomes enlarged. As the fecal mass increases, the tissue of the colon becomes compressed and irritated. This is called enterocolitiis.  If they enterocolitis persists, the tissue may die. This can lead to a life threatening infection called necrotizing enterocolities.  Enterocolitis is fatal in up to 30% of cases and is the most common cause of death from Hirschsprung Disease.








From http://emedicine.medscape.com/article/929733-overview#a0104:
http://www.mountnittany.org/assets/images/krames/97523.jpg

Why Caleb?

During her pregnancy, Alyssa did everything right.  She started her prenatal vitamins as soon as they decided to start trying for a baby, she avoided caffeine, she gave up her beloved sushi, and went to all her regular check ups.  Like many parents, Alyssa and Jake wondered what they could have done differently to prevent this from happening to their son.  The answer is-- there is nothing they could have done differently.  

Hirschprung Disease effects 1 in 5,000 live births.  It is caused by a genetic mutation and can be passed through families, but in most cases this gene mutation is sporadic. There are several genes that are associated with Hirschsprung disease, but no one gene or cause has been definitively discovered.  HD occurs more often in boys than in girls. 

Alyssa and Jake had always dreamed of a large family.  Caleb was their first child.  Would their subsequent children also have Hirschsprung Disease? If they had another son, the chance of him also having HD is 3-5%, while if they have a daughter her chance is 1%. For babies who lack nerve cells in their entire colon, the chance of a sibling also having HD increase to 12-33%. 

Caleb would need surgery to find out the severity of his Hirschsprung Disease.  There are three classes of HD: short segment (the end of the colon near the rectum is effected), long segment (the colon is affected beyond the rectosigmoid section), and total colonic aganglionosis (the entire colon and possibly parts of the small intestine are effected). In very rare cases the entire colon and small intestine are effected. 

Caleb's parents read the statistics and were hopeful that the tests would show he had short segment disease.  The numbers were on their side. 

• 80% of patients have short-segment disease
• 15-20% have long segment disease
• 5% have total colonic agangliosis 

While Alyssa and Jake were glad to hear that it was most likely that Caleb would have short segment disease, they were frightened to read that 1-10% of patients die from Hirschprung.  

Despite all this, Caleb's parents were inspired by other families. There was hope that they could lead a relatively normal life and Caleb would be a happy baby-- like this little guy:

 

Info from:

Pini-Prato, A., Rossi, V., Avanzini, S., Mattoli, G., Disma, N., & Jassoni, V. (2011). Hirschsprung's disease: What about mortality? Pediatric Surgery International, 5, 473-478. Retrieved April 7, 2015, from PubMed.

Hirschsprung’s Disease: Diagnosis and Management. (n.d.). Retrieved April 8, 2015, from http://www.aafp.org/afp/2006/1015/p1319.html

Hirschsprung's disease. (n.d.). Retrieved April 8, 2015, from http://en.wikipedia.org/wiki/Hirschsprung's_disease
Parisi, M. (n.d.). Retrieved April 8, 2015, from http://www.ncbi.nlm.nih.gov/books/NBK1439/