02/12/10 Friday's Results

After another night in the NICU nothing has really changed. This morning at Rounds we finally get a little good news. First, they reviewed the x-ray from Evergreen and it showed that Eli had a broken collar bone. The doctors at Evergreen just missed it. Second, the MRI results are back and everything looks normal. There was some concern because the CT scan showed some abnormalities but under the higher definition of the MRI everything appeared normal. Structurally Eli's brain is consistent with other 41/42 week old babies. Eli's underlying issue might be a metabolic disorder now instead of a purely neurological issue but they recommend we do an EEG (brain wave scan) to see if there are any issues with the brain's connectivity.

A technician comes in and hooks Eli up to a bunch of electrode and they proceed to monitor his brain wave activity for a few hours. After the test we get a visit from neurology with our first abnormal result coming from the EEG. Eli's brain waves are dysmature or slightly delayed. They described this as Eli's brain activity would more closely match that of a 36/37 week old infant not a 41/42 week old infant. We ask if this is what's causing some of Eli's problems but the jury is still out. It's just another test pointing us toward a diagnosis but we still don't have a definitive diagnosis yet. Now that we have an abnormal test the doctors are leaning more toward a neurological or genetic issue again. The good news is there was absolutely no sign of seizures or spike waves on the EEG.

I've been scouring the internet today trying to figure out what's going on with Eli. If you search under Hypotonic Infant you get a lot of results and most of them are related to some type of genetic disorder. One in particular seems to fit. Prader Willi syndrome has a lot of the symptoms we can attribute to Eli but there are some major pieces missing so we're not sure. I ask one of the doctors about Eli's undescended testicle and whether they have taken that into account as a symptom. The doctor's follow up was to ask me if I've been reading up on Prader Willi syndrome. I guess they've been thinking about it too. She confirmed that they have sent out a genetic test to rule out Prader Willi. In my research on-line I also ran into something called Menke's disease. Menke's is a particularly insidious disease because it's a progressively degenerative and ultimately terminal neurological disease. Menke's is also called kinky hair disease but Eli has this thick blanket of soft black hair covering this head. He almost needs a hair cut! Menke's is a copper disorder and without the ability to process and use copper correctly your body doesn't grown hair very well. What is does grow is usually grey and brittle and it breaks easily. It also has a distinctive appearance under a microscope. Given Eli's hair we don't think it's Menke's but we have some copper test outstanding still so the anxiety has spiked up a little. Sometimes doing research on the internet isn't a good idea...

About the same time the EEG results came in we were informed that we had some enzyme tests back that indicate Eli isn't missing any specific enzyme but not all of the tests are back yet. Regardless, the nutritionist thinks we can start feeding Eli through a feeding tube run through his nose into his belly. It's called an NG tube (nasogastric tube). I watched the nurse thread the tube down Eli's nose into his stomach and then she checked the placement of the tube by puffing a little air into the stomach while listening with a stethoscope. After that Eli was hooked up to a feeding pump and given some formula at 87 ml over an hour. It's been about 72 hours since Eli's last attempt at feeding and it feels good to know he's going to be getting some nourishment finally. While his weight has been stabilized through the IV fluids they've been giving him, this is the first step toward getting us transferred to the regular floor and then to home.

Eli is fairly stable all things considered and by the early evening they want to transfer us to the regular pediatric floor. Patricia is very nervous and upset about taking him out of the NICU. The level of care here in the NICU is unbelievable and we know we can always get help or get answers to our questions right away so we're a little reluctant to move into more of a shared services environment. By 8:00pm or so they pack us up and move us down to a shared room on the main floor of the hospital. The new room isn't too bad, at least there's a TV and the Olympics are going to be starting soon so that will come in handy for all the hours we're spending sitting around watching Eli sleep.