Sunday, May 22, 2016

Revisiting Trenton Part II - CHARGE syndrome

I realize that many of my current friends have never heard the first stories about Trenton that were on my blog.

Not many people have heard of CHARGE syndrome - probably including many doctors. It's a genetic mutation that was originally considered an association illness where a child had certain attributes and were put into one category. Not much has changed except that now most kids are found to also have the gene.

CHARGE is an acronym for the following: coloboma of the eye, heart anomalies, choanal atresia, growth retardation, and genital/ear anomalies. Sometimes renal is in here as the kidneys are often touched too. Usually if a child presents with at least 3 of these attributes at birth they can be given the CHARGE diagnosis. Trenton has coloboma, ear anomalies, and heart anomalies, so our geneticist was pretty certain, and the tests did come back positive.

What we didn't know back then and I learned this year is that Trenton actually carries two gene mutations that can cause CHARGE. One is common, and one had never been reported at the time of his birth. No one really knows what that mutation does except that it's not good. 

Trenton can currently see well even with the coloboma. The placement of his leave him able to see completely unlike what we were originally told. His heart has two other abnormalities that may need repair down the road, and he is currently living on one kidney as the doctor believes his other one has pretty much atrophied. His hearing is a little confusing. We were originally given the diagnosis of auditory dissynchrony where hearing comes and goes with static in between. After using a bone conduction head set though and seeing it increase his hearing ability, I would lean toward auditory processing disorder. It's similar, but rather than a nerve issue, I believe it is more of a brain connection issue. He currently has no speech. 

He is g-tube fed because cranial nerve paralysis is one of the common attributes although not a part of the acronym. One of his eyes will not close all the way, and one side of his face droops slightly. It used to affect his vocal cords for swallowing, but now we believe his inability to eat by mouth is developmental.

He does not walk, but last week he sat independently without fighting it for 30 seconds.

These are pretty much the details of what Trenton has medically wrong with him.

Thankfully, he is a really happy boy, and he can keep himself entertained so easily. I sometimes wonder how it's possible, but I believe that somehow God must give him something wonderful to think about. He's becoming more and more interactive again after losing most of that after we took him off of his heart medication. He developed Cyclic vomiting syndrome at that time too, but he now seems to be doing well with that and growing in interaction as well as we put him back on the medication for the new diagnosis.

I realize this was very informational, but some people may wonder about the details. 

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