Test Results and Beyond

At the neurologist visit in early June, a number of blood tests were run.  Some of the results are back (we are still waiting for results on some of the genetic tests).  One test result was high.  It was not as high as it would be if she had a degenerative muscle disease (think muscular dystrophy or ALS).  That would be 10X or more from the normal value.  So, the neurologist felt we should run the blood test again, to ensure that the level was indeed high.  The second blood level came back today.
Unfortunately, it was the same level as before.  This means there is a possibility that Claire has a congenital muscle disease and/or a muscle abnormality.  This is not certain as it could be "nothing".  Claire has obvious weakness and a developmental delay.  However, she is progressing, not regressing so it is difficult to ascertain what the "best" course of action is in her case.  After speaking with the neurologist at length, further tests are indicated.  These will be for diagnostic purposes as of now.  She does not plan to change treatment options (continuing extensive therapies) unless the tests find something very specific with a set treatment.  She is honest that she really doesn't know what to expect.  The only thing she is sure of is that Claire does not have a degenerative muscle disease and that she is currently progressing, not regressing, which is a good sign. 
The other tests that will be run are not "easy" tests.  The first will be her MRI next Friday, the 1st.  She has to be put to sleep for that and cannot eat all day (until the test at 3pm).  I am not looking forward to that at all.....The neurologist is not nearly as certain she will not find anything as she was prior to these test results. 
Claire will also undergo a nerve conduction/EMG test on each of her extremities.  I will not give the details here as some may not wish to know, but you can get the description on google should you so desire.  I have had this test done on me twice, one very recently and it is quite uncomfortable and painful.  The neurologist even warned us this will not be an "easy" test.  It is a very hard decision to make, but we feel we need to make sure this isn't something we can treat or something serious we need to know now as opposed to later.  We also hope she will have less memories of the "trauma" from the test if we do it now as opposed to later in life. 
The neurologist also mentioned a muscle biopsy.  It is my understanding this will happen if nothing is found on the MRI and nerve conduction/EMG test.  It may happen if something is found; just depends on the results, I think.  All in all, Claire is doing well.  The doctors are very impressed with her cognitive skills as well as her receptive language.  These tests are needed to ensure we know the proper way to treat Claire, and if she will continue to improve in regards to her swallowing or if this potential problem, means something different in that aspect.  The muscle biopsy would be done by a surgeon, etc.  We will cross that bridge if and when the time comes.  :)
The nerve conduction/EMG should be in the next few weeks (say 2-3).  Only one doctor reads them so it can be difficult to get an appointment.  July 4th holiday is in there as well.  :)
I will keep you updated as we learn more information.