Tuesday, February 26, 2013

A complicated Case.

You all know how special Case is, I'm sure of that! But do you know how complicated he is? Do you know that he's been tested for thousands of syndromes and diseases and it always comes back negative? What about the fact that all the genetic councilors and Geneticists meet on Wednesdays to discus their most complicated Cases and he's been the topic more than once? None of his
doctors have ever seen a case quite like our Case and most of them scratch their heads at him. His big genetic test, The Whole Exome Sequencing test came back yesterday. There were no tears. No fireworks. Nothing. No known syndrome was found yet. Just a lead to a possible syndrome. They will send his test back and his skeletal surveys somewhere else to see if he does have the syndrome they think he might. If that comes back negative, there is a chance the syndrome is so rare that they would "make it" based on all of his abnormalities. No joke. They even say they might name it after him (that might have been a joke). I think what's hard is his whole life has been full health problems, birth defects, disabilities, abnormalities etc. and there's no telling if or when the difficulties for him will stop. Or if his care will ever slow down. There's no predicting his future as far as growth and health. Don't get me wrong, we really think he is perfect just the way he is but we would really like to know all of what's going on in his tiny body so he can get the best care and have the best quality of life. This guy is a mini mystery. A blessing of complication and unpredictability.

1 comment:

  1. Oh, mama, so feeling your pain tonight as I just finished but another email to our pediatrician trying to figure out what to look at next for Mylie. She's not only not making the gains that her brother made but getting worse in some areas and no one knows why. All we learned from Vandy is that the doctor there thinks that her current diagnoses don't complete the picture and yet the tests they ran show nothing. It's so very hard and yet they are so very wonderful. Cheers to my fellow MM in not knowing but loving them all the same.