Thursday, April 9, 2015

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/

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