The debate on CCHS rages on. We just need the results of the gene sequencing to see if this is the definitive diagnosis. In the mean time Eli is still having some problems passing stool. He has been getting some pear juice to help loosen things up a little and now they have him on miralax, a mild laxative, in conjunction with some glycerin suppositories if he hasn't passed anything during a 12 hour period.
Overall, the constipation hasn't seemed to be too much of a problem and it is a known side effect of the iron supplements Eli was taking to help boost his red blood cell production. After the blood transfusion we stopped giving Eli the iron supplements hoping the constipation would lessen but so far we're still fighting the problem.
Unfortunately there is a known link between constipation and CCHS called Hirschsprung's Disease. Hirschsprung's Disease is a condition that affects the large intestine (colon) and causes problems passing stool. It's present when a baby is born (congenital) and results from missing nerve cells in the muscles of a portion of the baby's colon. The problem can be fixed through surgery to remove the diseased portion of the colon. So now we have one more fun thing to think about in terms of Eli's care and another possible bump in the road to overcome. Our first step on this new road is to take an x-ray of Eli's colon to see if there are any complications like loops or thickening of the colon wall that would be visible to the x-ray. Fortunately the x-ray is clean and Eli's colon looks perfect.
As Thursday wraps up we look back at one more inconclusive diagnostic test and the possibility of further complications down the road.
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