Wednesday Update

Hi Everyone

The appointment at the Neurologist went well today. I will try to summarize what happened.

Test results: Most of the results for the metabolic tests have come back, and they are all normal. They were testing her amino acids, fatty acids, organic acids, to make sure that they were being used properly, and so far everything looks great. She also got some results back from the muscle biopsy. Basically, they were not able to make a diagnosis based on what they found. What was interesting was that they did not find evidence of "myopathy," which basically means that they think it is a disease of the nervous system, rather than a muscular disease (e.g. muscular dystrophy). This pretty much confirms what we had thought, that it was more a poor turn in her development in the womb, rather than a anticipatory disease. The good news from this is that it is likely not degenerative, where the muscles just get weaker and weaker. But, the doctor did restate that with babies, there is often not enough muscle in the sample to say anything definitively, so there is as chance that the procedure would be redone sometime in the far away future.

Eyes: We have been interested in the fact that Ellie is really sensitive to light, especially flashes and sudden bright lights. We asked the doctor about this and she said that the pupils are a muscle, so with Ellie they are really weak and are not doing the dilating type activity that they are supposed to do to react to light, so that is probably what is making her uncomfortable. So we are off to search for some cute hats! What do you think of these? http://www.scarletstitch.com/girls/accessories.html

Sleep: It was interesting talking to the doctor about how much Ellie sleeps. She said it is normal for kids like her to sleep a lot and not have very much energy to stay awake. She told us there are kids who are 6 or 7 who are only awake for two 2-hour periods each day! But, we have seen improvement in Ellie: she was awake for 3-4 hours this evening!

It was nice to hear encouraging things from the doctor. She was impressed with Ellie's new movements in her mouth, and how much she moves her legs. She said she remembers telling us that Ellie was one of the more severe cases she had seen. She said that is no longer true now that she sees Ellie's drive to breathe on her own without any support. She can tell that Ellie has a strong will to live!

Okay, off to bed. We have another busy day tomorrow with two different therapy appointments: the cranial sacral therapy is in the morning, and the physical therapy is in the afternoon.

God Bless,
Emily