Last night about 1130 Marie had a spinal tap. They collected spinal fluid to evaluate for infections etc (they are still in the process of ruling out a lot of things). That said, they believe Marie has 1 of a group of about 200 metabolic diseases. We have been told that her MRI and symptoms indicated that her brain (specifically the part that controls movement) is not getting enough energy to operate properly.
They say this is a problem with her mitochondria in her cells. Glucose enters the blood stream, is converted to usable energy by a series of steps and is used by the various parts of the body. Marie's problem is that one of those steps along the journey is not functioning properly. So, they are doing some very intensive blood work and there will be a muscle biopsy to determine where along that process the problem lies. If it's at the beginning of the process that is more treatable, towards the end of the process, much less treatable.
Right now we are doing a series of 3 blood tests, and there will be another large draw that must be sent to the Mayo Clinic on Monday.
At this time I'm thinking we'll probably be here that long. My Mom and sister Marika are coming today, and Judy is bringing Josie to us from Greeley (I didn't see her at all yesterday and that really sucked). My cousin Renee came and gave us some much needed laughter yesterday, she made the afternoon fly by and it was so nice to hang out with her.
At this time, if we could, I'd like to ask all of you to focus your prayers on us getting a diagnosis of one of the more treatable diseases.
Sadly, mitochondrial diseases cannot be cured, but there is treatment for some. At this point we are looking at something that Marie will have for the rest of her life, and they've told us there will be certain developmental delays, though they can't say what or how severe at this time. Lets all just pray that it's treatable. Much love- Shan