04/20/10 Test Results

Today we got word that the PHOX2B gene sequencing we've been waiting on came back normal. This means that Eli does not have Congenital Central Hypoventilation Syndrome. Any test result that comes back normal is a relief but the lack of answers is very frustrating. We can cross one more thing off the list and move on into the unknown. We have no more tests outstanding. Eli has had the million dollar work up and at this point we may never end up with a diagnosis.

We had a meeting at the hospital this morning to discuss getting a gastric feeding tube for Eli. Eli has been taking bottle feeds 3 or 4 times a day. We're working on giving Eli 30CC's with each bottle feeding. It really depends on how awake he is for each feed but in general he's doing well with the bottle feeds. Eli is getting a total of 150CC's of breast milk or formula every 3 hours so we still need to give him 120CC's via the feeding tube when he takes his entire bottle. He still has the NG tube (nasogastric tube) in to facilitate the feeding but NG tubes are intended to be a temporary measure. After a couple months you really need to start looking at longer term alternatives if you still need this type of support.

A gastric feeding tube, also known as a "G-tube" or a "button" is a tube inserted through a small incision in the abdomen into the stomach and is used for long-term enteral nutrition. Eli had an upper gastrointestinal examination today and we're looking at a type of G-tube called the percutaneous endoscopic gastrostomy (PEG) tube. It is placed endoscopically. The patient is sedated, and an endoscope is passed through the mouth and esophagus and down into the stomach. The position of the endoscope can be visualized on the outside of the patient's abdomen because it contains a powerful light source. A needle is inserted through the abdomen, visualized within the stomach by the endoscope, and a suture passed through the needle is grasped by the endoscope and pulled up through the esophagus. The suture is then tied to the end of the PEG tube and pulled back down through the esophagus, stomach, and out through the abdominal wall. The insertion takes about 20 minutes. The tube is kept within the stomach either by a balloon on its tip (which can be deflated) or by a retention dome which is wider than the tract of the tube.

This type of feeding tube will be a more permanent solution and will allow us to feed Eli without worrying about an NG tube interfering with the fit of his respiratory masks. We still have some more research to do and we need to have a couple more discussions with the doctors before we move forward with this new feeding tube but we're leaning in this direction.

Eli's CO2 has been up and down lately. I think a lot of it has to do with how Eli is being supported in terms of masks, quality of care, and his schedule on and off the BiPAP. Last night they finally got the new nasal pillows to work for the entire night and they took a blood gas this morning. Eli's CO2 was down to 54 so it's much improved over the mini mask they were trying to use.

They also weighed Eli again today. I heard they had some questions about the weight reading from last night so in the afternoon Patricia and the nurse stripped Eli down and weighed him. He's a solid 7.0 kg or roughly 15.4 lbs. After discussing things with the nutritionist they've decided to maintain Eli's feeds and calorie count. I think he's getting a little chunky so they're not going to advance his feeding anymore right now.