Tuesday, June 12, 2007

Day 2 observation by Neuro

Ok ya'll....huge. (video footage below)

After Luke's nap and 1 hour after the 2nd dose it was temper tantrum and wild man central. He was a wild man. Verbally and physically. The neurologist was amazed and very impressed that Luke responded to such a small amount. She started him super low. His neck control was sooo evident. And, she said "I can see him today". Luke has a huge tendency to lower his head when tired. However, he would look up at her and then turn his head left and look right at me. Amazing.

Currently, we are experiencing like itching of his eyes, and rubbing his head, his feet, etc. Not sure if he's just got more strength that he feels this now? The Neuro asked if that was normal and I said that he usually rubs his eyes a lot and have never been able to figure that out. However, he's been super alert. On High Alert. Like....staring at people with these wide eyes, and has a huge expression in his brows, mouth and eyes. The Neuro noticed that right off.

1. Our Neuro cancelled the EMG. (Glory to God..enough said!)

2. We went down to the blood labs to get Luke's blood. Anyone want to take a guess as to the outcome? YEP----Only got 1cc! Meaning, they only got enough to test that one gene that is suspect. Everywhere we go...we tell them "he's a tough stick". Sure enough....they did all they could. So, our Neuro said it's just enough to test that one gene they really believe is the cause.

3. However, this is where it gets complicated. Luke's blood has to be tested FIRST and then ours. We thought she said we would know tomorrow about 'me and Jonathan'. We misunderstood greatly. They have to test Luke's DNA first (which takes 5 weeks) and then ours. If Luke's gene is not the one they suspect, then off to do more blood work for Luke at Children's in Dallas. (ohhhh, I'm tired already)

4. Now, to make things more complicated is the following: Some CMS patients respond to medication and then DIVE (meaning...it stops working overnight-usually in 1 week or 2weeks) and at this point, they know it's not the gene they suspect it is. What does this mean? Means since Luke's testing will take 5 weeks....we may find out based on his symptoms if it's not that gene prior to the final diagnosis of the suspect gene. (NICE HUH?)

I hope this makes sense. It's gotten a smidge more complicated today. We felt pretty clear yesterday and now we are in the 'waiting mode' again.

I did give him his last dose of the day just now. Jonathan is getting us some din din. So, be back with more results from that. All in all, we are feeling very good about it.

We are scheduled for a '2 day trial' and it looks like we may go home Friday AM. Yippeeee
We will know more tomorrow. Tomorrow we have an EEG scheduled per the Neuro's suggestion. So more info tomorrow.

Huge hugs and thanks so much for the comments. We love ya'll. I am off to post to this P2P lady that has a child that's on Mestinon. And...our CMS friend emailed me! Yippeeeee

Video footage below...enjoy. P.S. I asked our Neuro permission to post her on our blog. She said 'no problem'. We love her!!

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