03/29/10 Results

This morning we had our first hematocrit test since the blood transfusion and Eli's hematocrit was finally at a normal level. We're finally starting to see something positive for a change.

Patricia spent the day at the hospital again and had an opportunity to meet with one of the neurologists and the chief pulmonologist. The pulmonologist still thinks we should move forward with the tracheostomy. We're still not sure the tracheostomy is going to be the best long term approach to Eli's care but we've asked the hospital homecare staff to gather some additional information for us, like the availability of home nursing care, etc... There's a lot that goes into a tracheostomy and we want to make sure we have all the facts plus we feel like Eli is continuing to grow stronger so we'll delay as long as we're sure Eli is safe and doing well on the BiPAP. Right now the general consensus is that Eli has what they call Congenital Central Hypoventilation Syndrome or CCHS for those who like acronyms. There are still some differing opinions on this "working diagnosis" though. The pulmonologist doesn't think Eli has CCHS. I had Patricia follow up with him to ask why and he said it was because CCHS patients don't present with hypotonia. (WRONG!) My research has turned up some pretty substantial and credible sources that indicate about 25% of CCHS patients had hypotonia. In fact there is a very informative survey that was done on patients with CCHS that helps define what living with and taking care of someone with CCHS is like. CCHS is also called Ondine's Curse. I've written a little about it in my previous blogs. There is more information located at the following link, http://www.cchsnetwork.org/.

Eli was previously tested for a genetic mutation of the PHOX2B gene and the result was negative. We've since researched the issue a little further and found that the majority of individuals with CCHS (90%) test positive for this mutation. The remaining individuals with CCHS (10%) can be identified by further genetic sequencing of the PHOX2B gene. Since Eli exhibits a lot of the symptoms of this disorder we've been pressing the doctors to send off some blood work to have the gene sequencing done.

Eli has been on an interesting schedule to kind of feel around the edges of his CO2 problem. From 8:00am to 4:00pm Eli is off BiPAP and on regular oxygen through the nasal cannula. They test his CO2 right before putting him back on BiPAP for the rest of the night. Today Eli had a CO2 level of 62 when they tested him. Yesterday it was 56 and it's been somewhere in the 55 to 65 ball park for the last several days. Of course this schedule is a little tougher on me because I come straight to the hospital from work and get there well after he goes back on BiPAP. It's a little harder to hold Eli and cuddle him with the BiPAP on. The trade off isn't too bad though since he gets to spend all day snuggling with Patricia while he's off the BiPAP. I know the bonding experience has been hard on Patricia so I don't begrudge her the "face" time with Eli.

When I got to the hospital this evening Eli was already hooked up to the BiPAP but they were using the nasal prongs instead of the mask. We've tried the prongs so many times now that it makes me a little angry when I see Eli with them on. They never work right for Eli. He seemed to be doing ok for the first hour after I arrived but he was awake. As soon as he fell asleep his oxygen saturations started to drop and "ping pong" up and down. I told the nurse that we needed to switch him back to the mask so she went to talk to one of the doctors. The next thing I know the resident tells me they want to get another x-ray of Eli's chest to make sure everything is going ok. She mentioned that they hadn't done one in a while so I didn't argue with her but the x-ray was normal so I felt like it was another added dose of radiation that Eli just didn't need. After that I got a little more forceful and suggested (nicely) that we switch Eli to the mask instead of the nasal prongs. They made the change and guess what? It was smooth sailing for the rest of the night. After this little experience I asked (again very politely) that we stick with the mask and not use the prongs again. The resident said she would make a note in the system. My job as a "PITA" father complete, I retired to the sleeper room to get some much needed rest.