5/30

There has been alot of things going on this week. First Connor's neuro dr called and wanted to know how he was doing. I told her the same. She said we have to start thinking about iv steroid treatment. She said that if he was getting worse then the decision to go ahead with it would be easy. But he's not getting worse he is staying the same. The steroid treatments are not without risks. The risks on worse case scenario could be death. They are in the process now of setting up another MRI & spinal tap. We will get the results of that and then make a decision. If it is cerebellitis he is not getting better on his own. My only problem with this is that no one can tell me for sure that this is what he has. We have 3 dr's thinking he has 3 different things.

Connor's blood work is finally back. That only took 7 weeks. That Dr said that it didn't show any of the things that they were looking for. I am not quite sure what that means since he didn't say that all the tests came back negative. Just that it doesn't show what he was looking for. So, he wants to do the biopsies. I said yes. Because, if Connor has mitochondrial disease then we don't want him to have the steroids. This will be surgery and it will be under general anesthesia. They will be taking muscle and skin biopsies from a few different spots. This dr feels that the odds of something coming back positive from this is somewhere between 30-40%. The dr is trying to set things up for this now and will let me know when.

We got the report from the feed/swallow team. That one said Connor is being treated for paroxysmal leukodystrophy. Of course this diagnosis was new to me and I freaked out. Where did this one come from and why don't I know about it? I called the neuro dr right away and went to look it up while waiting for her to return my call. The Internet says that it is a myelin disorder where genetically he is either missing an enzyme to produce or metabolize myelin. The symptoms certainly sounded like Connor's. Our neuro dr doesn't know where this came from either. She had me call the feed team to see where they got this. Because like she said if someone diagnosed him with this she needs to know about it. So far no one has gotten in touch with me from there. Our neuro dr even e-mailed the director of the team and we still haven't heard anything. The ataxia dr said that he thinks they gave him that diagnosis in the strictest sense of the word (what ever that means) and he wouldn't say that Connor has this. At least right now.

We also had our meeting with early intervention this week. Connor is going to be getting Developmental intervention 2X/week, Physical therapy 1X/week, Speech therapist 1X/month (to follow things since the developmental intervention will work on this also) & Social worker 2X/month for now until things stabilize with him. They are calling it family support. I think they feel mommy is starting to come unglued. (they wouldn't be too far off the mark with that). Hopefully at least some of these services will begin to start in 2 weeks but no longer than a month. Connor also gets his helmet on 6/10. Our " GREAT" insurance won't cover this "type of device". They also suggested we get his hearing checked just to make sure that he is hearing all tones. There are times we have worried about his hearing because when you call him and try to get his attention he doesn't respond to you. He does hear music and loud noises. We just want to make sure that there isn't a problem there that is complicating things. I have a call in to his pediatrician about getting that done too.

On top of all of this Connor's left eye has started to cross at times and it seems a bit droopy. I did mention this to the ataxia dr and he said that it could mean that things could be getting worse. Now the rush is to find out what he has before things get worse and there is no coming back from it.