Yes and no.
Yes, we found that our little guy has some abnormal anatomy. His epiglottis is strangely formed and completely covers his airway. It’s good news that it flops down, not up. So if he is ever able to gain enough cognitive coordination and sensitivity to begin swallowing he may be able to eat. His low muscle tone however causes it to close up when it should be slightly open to the vocal cords. We need to watch more closely for signs of apnea, especially while he is sleeping. If you’ve ever met him, you know he’s just an all around noisy breather. However, I haven’t heard him snoring much, probably because he’s a stomach sleeper. Still, it justifies another sleep study (his third). Also, his esophagus is severely inflamed. The doctor called it “remarkable,” but we’ll have to wait for the culture results to have a true medical term.
And no, we didn’t find anything that would obviously reveal the source of his pain. Nothing earth shattering. We did discover in the process of the “wash out” leading up to the procedure that he seemed to be doing better off his meds. The doctor was speechless when I told him this because he said just last week another Cri du chat patient’s mom said the exact same thing. So maybe something about his syndrome causes him to be particularly sensitive to the side effects of reflux meds.
His little body is such a mystery. I’m thankful for our team of doctors who are willing to dig deeper to find out what’s going on and creatively problem solve his symptoms. The biggest learning from Wednesday is that we can trial him off PPI reflux meds for a little bit to see if he stops having screaming fits of pain.
We will also continue our quest to figure out his kidneys. Another ultrasound Tuesday revealed neither kidney has grown in almost a year. We can’t figure out if he’s possibly having bladder spasms or urine retention and the treatment is very different depending on which it is. So…we get to start cathing him when he’s in pain. (I’ve been whining about that in my head all week.) At this point its a two person job to pin him down. I have a 20 pound fighter. He’s sweet as can be until you start messing with him.
Now we are waiting results of cultures, biopsies, and the impedance probe. Oh the lovely impedance probe! In order for it to be considered a valid study of reflux, the probe needs to be placed for 24 hours. The doctor said if it stays in for 48 hours then he does a little jig in his head. I am an overachiever, but even I had very little hope of it staying in for even 24 hours.
Look closely between these two pictures. One was taken right before bed last night and the other this morning. Notice anything? That’s right little man pulled out the probe in the middle of the night. This morning without that silly probe down his nose his body language was as if to say, “Hey guys, I’m the winner!”
He may be small but he is mighty, even with arm restraints. So he made it about 12 hours. I was feeling pretty bad about that until we returned the probe to the hospital and the nurse said, “That was better than the other kid. They only made it to the car and it was out.” So there Nafe. We’re actually the winners!
I praise you because I am fearfully and wonderfully made.” -Psalm 139:14
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