Thursday, June 23, 2011

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. 

Saturday, June 11, 2011

Visit to the Neurologist

Well, Claire went to the neurologist on Tuesday.  Another doctor in another speciality trying to weigh in on Claire's situation.  As my pediatrician put it, "everyone wants to be the one to figure out Claire".  If only it were that simple.  As Dr. Richter her ENT put it, she is a complex case.  Not only is her "primary" condition extremely unusual, she has another of other symptoms that cannot be explained by her swallowing dysfunction.  So other doctors get the chance to weigh in.  See if they will be the one to find the elusive diagnosis that will explain it all. 
As most of you know, Claire has generalized hypotonia, which means the muscles of her entire body are weak.  She also had a significant delay of speech.  Another "concern" is that her cheeks are abnormally red/rosy (although her pediatrician is not concerned about that at this time).  So those symptoms combined with her swallowing dysfunction resulted in a recommendation by the allergist and ENT to see a neurologist.
So, we went.  She noted that Claire's left side is markedly weaker than her right (more than seen with just a preference for the right in a right-handed person).  Her upper body is very much weaker than the lower half.  This could be that her physical therapy has made a larger difference in the lower or that her upper body is more effected by whatever has caused her to be weak.  Her speech is still delayed.  She was been slow to reach developmental milestones.  However, the neurologist does not feel she has a "syndrome" to explain all of this.  She is just slower.  As long as she is not regressing, the neurologist does not feel there is a reason to "worry".  She also agrees Claire is cognitively intact, and her receptive language skills are very sharp.
So the neurologist decided to run a large number of blood tests to rule out a bunch of stuff (that I cannot remember).  This is never fun as Claire is a "hard stick".  The nurses spend "forever" to try to find a vein they can use.  Unfortunately, we were there after the lab hours, which is not good as the people from the lab are the only ones who can draw Claire with any good results.  So, the nurse finally tried and got nothing (after digging, which I HATE).  So they called the lab who came and got it on the first try, but they didn't have ahold of her other arm well so she reached over and pulled out the needle.  The nurses and the lab technicians were amazed with how well Claire handled the whole situation.  I said, "This is what happens when you are in the medical system from 5 weeks of age on."  The neurologist does not expect these to come back positive, but one never knows.  It will take a couple of weeks to get the results so I will post when we know something.
The neurologist also wants an MRI of Claire's brain.  This will require Claire to go under anesthesia.  Yeah (sarcastically)!  I think we are up to 9 or ten times now.  :P  Unfortunately, the scheduling office was closed when we got finished with the appointment so we don't know when it will be yet.  The nurse did the pre-screening and was asking about anethesia, etc and when she heard how much we have been under she laughed and said "you could give this info.".  I will let everyone know when we know more about when.  Again, the doctor does not think we will find anything but did caution it is possible that there is something in the right side of her brain, which would effect the left side of her body.  One can have a motor deficit without any intellectual (cognitive) deficit.
So we wait...for answers...that probably will not appear.  We are just thankful Claire continues to improve.  We will return for a swallow study and an ENT appointment in August.  Then more decisions will be made.
Thanks for continuing on our journey with us!  We couldn't do it without all of you!!

It's Gone!

Hi!

We did end up pulling Claire's tube a month ago (I know I am sooo behind, sorry!).  There were no complications and it has healed.  No stitches were needed-it closed completely on its own.  She does have a rather large scar, but we are leaving it alone for now.  The hope is it will get smaller as she grows.  We may consider doing something about it later, but the pediatrician says now is not the time to even begin to think about that.  She had the feeding tube for over two years so a scar like hers is to be expected.
So we continue to progress.....she is doing wonderfully, and we couldn't have asked for better progress.  Just last week a lady from the church who watched her in September and then again last week said she is a completely different child!  She could not believe how much progress Claire has made!  Sometimes I think Jonathan and I forget since we see her everyday, but we hear that from so many people, especially those who do not see her on a regular basis. 
We are thankful that she continues to do well and is such a happy child!  Medical science is an amazing thing!!!