Round 1

For the most part, today was a good day. Not as trying as we thought it would be. We got to all of our destinations with out any problems (traffic or navigation). First we went for the metabolic testing. Let's see....this was not Eve's favorite. They put this drape with a plastic bubble over her head and hooked up an oxygen tube to it. She was to sit calmly in this for 15-20 minutes. Yeah....not so much. Fortunately, the plastic bubble dampened the screams. The poor kid got so worked up in this little greenhouse that she got totally sweaty and fogged it up. She survived that and then they hooked up an EKG to her. Again, not so happy. But, she managed to calm down for this since she wasn't being pinned down. Jim was able to distract her with pictures on the camera. Speaking of pictures, here are some shots so you can see what was involved. Is it bad that Jim and I are laughing?







Then we went to Dr. Shoffner's. Very interesting experience. He is soooo calm. He told us that he had reviewed Eve's records and spoken with Dr. Krewiecki and has been thinking about Eve. He sat us down and summarized what he knew about Eve and her situation to make sure he was on the same page. He said that the genetic testing that has already been done, was the very most basic. He said that testing was like looking at the earth from Skylab and being able to tell if Georgia was missing. But, you wouldn't be able to tell if a town or neighborhood was missing. His testing will be much more specific. He isn't ready to say that Eve is regressing (but isn't ruling it out). He said that if she were truly regressing, you'd probably see something on the second MRI. More importantly, you would also see comparable regression in her cognitive functioning, which is not the case. He said there are many possibilities for what is causing Eve's delay - many problems have the same presentation. I asked him if he thought we were doing the right thing by having this testing done - i.e., is this the next step? He told me what he noticed about Eve that is of concern and is unusual. When he stroked the bottom of her foot, instead of curling down, her toes curled up. Not only did they curl up, but they sort of pulsed that movement. So, instead jerking her foot back because it tickled, he fanned her toes up several times. Also, he watched her walking and said that her gait is not as fluid as it should be. She does step, but it is very jerky. He said there are definite issues with her lower extremities. Specifically, she appears to lock her knees to support her weight and stand. He asked us about her muscle tone (and we explained that she is both floppy and stiff). He is very scientific about his explanations and approach. So much so, that I forgot he was a Doctor and was surprised when he got out the stethoscope and the light to examine her eyes.

Tomorrow they will be taking blood, urine, muscle tissue, skin (from the side of the incision), and spinal fluid. It will take 8-12 weeks for results. He will send us the report that he sends to Dr. K, but said it will not be just test results, but explanation and interpretation as well. I am encouraged that he did not automatically think she was regressing and had a degenerative disease. Tomorrow will be a long day. Wish us luck.