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/