This is a chronicle our everyday life as we live, laugh and love raising our teenager, our toddler and our special needs baby. Normal isn't always what it seems...

Wednesday, December 22, 2010

Questions and Answers

  As many of you know, our visit with Dr. Koenig (the mitochondrial disorder specialist) was this past Friday morning.  Jonathan and I were very anxious and curious as to what exactly we would hear since these tests were all performed back in September and we have been anticipating them ever since.  We actually had talked many many times about what she might say and we thought that we were prepared for all the possibilities.  Wrong-O!!  Dr. K was very thorough,  nice and personable and we felt very comfortable with her.  She examined Lydon and explained to us the results of his muscle biopsy.  She told us that Lydon most definitely has some obvious mitochondrial dysfunction. She said that there were some inconsistencies in his results but that this is very normal at his age because mitochondrial disease is something that is progressive. As the mitochondria continue to work hard to keep up with the energy supply needed for normal growth and development,  they break down and wear out and reek more havoc on the muscle tissues.  Hence making the biopsies and testing clearer and much easier to diagnose as they get older. She said that because of some of these inconsistencies, she was not ready to give Lydon a mitochondrial disease diagnoses because she didn't want for him to be "put into a box" where we could possibly miss something else.  It was the "something else" that surprised us. We never had really thought about the possibility of something else causing his mitochondria to "fail." We just thought that they were failing on their own and that was enough for us. Guess that's why we consult the physicians and don't diagnose or manage ourselves. Dr. Koenig gave us a list of several things that she felt like we needed to test for and/or rule out.  She told us that depending on the results of this group of tests, she would either diagnose him with primary mitochondrial dysfunction/disease or secondary mitochondrial disorder in which case we will continue to search for his primary diagnosis. After all was said and done, we had literal stacks of papers to take with us to the lab for all of the blood work. We walked the long walk through the sky walk and hallways somewhat at a loss for words. Thirteen tubes of blood later, we waked out of the lab in tears...all of us!  Now, after having a few days to let some of this sink in a little bit more, we realize its not always as bad as it may seem.  We may not have gotten a definite diagnoses but we did get some answers.  We know now that there is something that does most likely connect all of Lydon's problems.  Now, we have a fantastic team of doctors who are not just monitoring him but observing him closely and besides that, we know The Great Physician is ultimately the one in control.  We will not get  any of these results back for 6-8 weeks so once again we play the waiting game.  Hopefully this time, they will come back sooner instead of later.  In the end, we left with some answers and a lot more questions but we've known for a long time that this road we were on wasn't going to be easy and we have so much to be thankful for!  In the spirit of Christmas, my next post will be about all of the incredible blessings we have received this year and most especially this season.

No comments:

Post a Comment