Well, it's been a long time since an update...I keep trying to wait to update until I have actual new information, but right now it's still a waiting game everyday. Here is where things stand with Mason right now.
1. He was seizure free since the 12th of Oct. on his increased dose of Keppra, and no phenobarbital. Last night he had another seizure. He's had some slight seizure activity during the day today too. No med changes yet, unless the seizures continue. If that's the case, my preference will be to make a SLOW increase in his meds over the course of a few weeks so that hopefully the side effects will be less severe. (His main side effects so far seem to be insomnia in the daytime and increase in reflux/vomiting).
2. We have made a decision to go forward on the G-tube for now because he is so up and down on his ability to eat. We had hoped to be able to do a simpler procedure called PEG (basically just like ear tube surgery -where you're just sedated with gas and they poke the tube in and you're done, hardly any recovery to it other than maybe a little Tylenol.) But due to his intestinal malrotation and previous scar the surgeon says it's too risky - they might accidentally puncture his colon that way and can't take that chance. This means he'll have to have an open incision gastronomy put in, which is a much bigger deal and much more post op pain and therefore the need for narcotics. I was really disappointed about this since we're not sure how he'll handle more pain med withdrawal; I asked if they could do the On-Q style anesthesia (where they leave a novacaine pump in the incision to avoid the need for narcotics) but sadly they said this is supposedly only for adults and they don't offer it at our hospital. So I need to talk to anesthesia about which drug we should use. I did talk to the lady who did the mouse research on beta-arrestin2 knockout mice (see previous post). She said that morphine may be a better choice for him than Fentanyl, because at least in mice, they had less severe withdrawal from morphine than from Fentanyl and needed less of it for effectiveness, but it's hard to say what's going to happen with Mason. She offered to talk through it with his docs, and she wanted more details about the other genes missing to get a better picture of what was going on. Some of the genes he is missing are things for like glycolipid transport and if this affects the metabolism of certain substances, it could cause an underlying nervous system/neurological disorder hasn't been identified yet, which could have a lot of the same symptoms as withdrawal on the surface, but not actually BE withdrawal; or he could have both - a more severe withdrawal from certain drugs due to missing proteins, and/or also a brain disease that has symptoms very similar to drug withdrawal in general. Whatever the case, it's definitely confusing.
3. Another factor involved in the G-tube surgery is whether it will be JUST a g-tube surgery, or if it will include a procedure to help treat his reflux/vomiting issues. He had an upper GI barium swallow study today to determine if he's having reflux and how much, but we don't have the results yet. Basically, if the results show a significant amount of reflux or some structural problem that isn't going away, Mason will need what is called a Nissen wrap or fundoplication procedure, where they wrap part of his stomach around his throat to keep him from being physically able to throw up. If he clearly needs this, we'd rather do it now with his G-tube surgery than have to subject him to more surgery/pain meds later. But we need prayers for clear direction one way or the other as neither option sounds all that great to us. If he DOESN'T get the "fundo" surgery now, the surgeon is afraid his reflux will get worse from the G-tube, because they have to "tent up" his stomach for the G-tube, making the angle more likely for the stomach to reflux; ongoing reflux can damage his insides, make him hate eating, and cause issues with the g-tube. If he DOES get the wrap, it brings more possible complications - the size of his stomach will be reduced by about 50%, meaning he'll have to eat tiny meals all through the day, most likely, and for a while after the surgery, will need to be suctioned often because he may not be able to swallow his own saliva. Plus, it could make it hard for him to eat solids later if he is able to by mouth, and also, the sensation of having his stomach wrapped around his throat will be more distressing to him than the reflux he had before (according to his surgeon), since he's used to the feeling of reflux, so they really really don't want him to have it unless he really needs it. And we really really only want to have to do one surgery, not 2 ... so please pray for extremely clear direction on this decision, which I suppose we'll need to make tomorrow after the surgeon gives us his recommendation after seeing the upper GI results.
3. Mason's left eye had glaucoma when he was born - they have gotten that under control with eye drops, and now the drops have been stopped to see if it stays under control by itself. If not he will go back on the drops as needed.
4. Our parental FISH test results (the ones telling us whether this deletion in Mason was inherited, or a one-time random event) are still not back.
5. If we can get Mason through his surgery (hopefully next week), and we have a good plan for seizure control, hopefully within the next couple weeks we can start thinking about home!!
And since I need it, here is another song for today (No Matter What, by Kerrie Roberts):
http://www.youtube.com/watch_popup?v=OA3MSqufJP4&vq=medium#t=13
