Hirschsprung disease : A parent's perspective

The point of today's blog entry is to help create more awareness about Hirschsprung disease. Before my son was born, I had no idea that such a thing even existed. I had heard of down syndrome of course (being a PT, it is part of the training) but Hirschsprung disease was something totally new. For those out there just like me, let me give you a quick intro to it. 

Hirschsprung disease is a congenital condition that affects the large intestine also known as colon which causes problems with passing stool. This condition is a result of missing nerve cells in the muscles of the baby's colon which can be confirmed by performing a rectal biopsy. In other words, its a condition where baby is born without the nerve endings in his/her colon that ensure everything keeps moving along as it is suppose to. As these nerve endings are missing in part of the colon, it prevents stools from passing. It is a life threatening condition if not treated. It is usually picked up in the first few days after birth but sometimes can take a little longer. Treatment usually means surgical intervention and removal of the affected portion of the colon 

Hirschsprung disease occurs in approximately one in 5,000 newborns. Doctors aren't entirely sure why some children get Hirschsprung disease, but they do know it can run in families and affects boys more often than girls. In fact, Hirschsprung disease is about five times more common in males than females. Children with Down syndrome and genetic heart conditions also have an increased risk of Hirschsprung disease. For example, about one in 100 children with Down syndrome also has Hirschsprung disease.  (Statistics taken from https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease)


Laksh had emesis 24 hours after birth which was greenish in color. That vomit created a panic of sorts and the pediatrician on duty admitted him into the NICU right away. The hospital where he was born did not have a higher level NICU and he was transferred into a bigger hospital within a few hours where they suspected a few things, one of which was Hirschsprung disease. To diagnose it, a rectal biopsy is performed which was done in a few days after we were admitted in the NICU but the results took a while to come back. When the results came back, he was scheduled for a surgery within the next few days.



For Laksh, we had to undergo a Pull-through Procedure, thankfully without the need of a colostomy pouch. His surgeon did a wonderful job and I would like to specially mention him here, Dr. Jason Fisher. He worked very hard and the surgery that would have taken 3 to 4 hours took over 7 hours ( more colon than what they originally thought was affected) but Dr. Fisher and his team were amazing and so was my son. He is a rock star. This surgery happened when Laksh was exactly 3 weeks old.

So now that I have given you some back ground, here are the 5 things I have learned about Hirschsprung's disease from my son:

1. Seeing your baby's dirty diaper for the first time can become a moment to cherish and celebrate.
2. Every diaper change that does not have poop in it can be nerve wrecking and a cause of concern
3. Measuring you baby's belly becomes a routine of sorts and having pictures of his dirty diaper in your phone fairly normal.
4. Rectal dilatation; no matter how painful for a parent to perform, helps our babies tremendously. 
5. And lastly, you won't care if your baby has down syndrome or hirschsprung, all you would remember is how incomplete your life is without him and how you will do anything to see him smile

Here are a few photos of my darling Laksh and the smile I can do anything for.

 

Always remember to appreciate the differences, as the differences are what make us unique. Happy Holidays!