This amazing boy was born 12-21-10 at a whopping 2 pounds, 13 ounces due to an unknown syndrome and Inner-Uterine-Growth-Restriction. His doctors didn't expect him to live but living life to the fullest is what he does!!!!
This Is his story:
-Case was born with a multi-cystic, dysplastic non-functioning left kidney (that has since shriveled up) and fluid pockets on his right.
-He is currently J tube and TPN dependent and fed 24 hours a day intervieniouly and straight into his intestistines due to swallowing issues, poor motility and intestinal issues.
-He has suffered from Crainiosynostosis (Sagittal), Chairi Malformation a tetered spinal all corrected via surgery hopefully to never return......
-He was born with an ASD, VSD, PFO and several "normal variants of the heart that are currently stable.
-He suffers from Failure to Thrive and extreme short stature.
-He started growth hormone therapy in March, 20015. He gets daily shots and they are WORKING!
-About a year ago, he passed out in a hypoglycemic shock with sugars below 20. He was quickly stabilized being we were at the hospital (thank God)....He still suffers from severe Hypoglycemia and can not go without nutrition for more than two hours, even at night.... He has home health nurses at night and while at school.
-Case also has very severe GERD on top of the motility issues and lack of function in his gut. He was unable to tolerate night feeds and is now on TPN and Lippids through a central line in his chest. He takes several medications to help but nothing seems to completely work....
-Due to lack of growth and intestinal failure he had his central line placed 1-20-15 (this is a semi-perminante IV in the major vein by his heart).
-On top of all of this Case was born with many birth defects and congenital anomalies. We hope to some day have a "name" to go with what ever syndrome he suffers.....but for know, we are blessed to have our boy with us.
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.