Meet CASE!

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.

Saturday, September 22, 2012

"You make beautiful things".

"You make beautiful things. You make beautiful things out of dust. You make beautiful things. You make beautiful things out of us. You make me new. You are making me new."
Case is a beautiful thing. Through him we are becoming "new". A new mom and dad doing things and going places we never thought we would. During the nightmare that was my pregnancy with Case one of the million OBs I'd see used to say his "computer programming is messed up. When your baby's computer program was put together it was put together wrong." Yesterday at the Genetics appointment they talked of how baffled they are by Case. "We've just never had a case quite like his. We know there is a reason behind all of his differences/issues we just don't know what.  We are at a point where we've tested most everything we think it could be." We spent hours with the Geneticist, Genetic councilor and a student studying Genetics (they brought her in because "Case is so interesting and she could learn from him"). We went through every problem he's ever had and discussed every test already done. Are plan is to go back in November and sign a bunch of consent papers then start the Whole Exome Sequencing test. This test is new to the hospital and we are only family number 7 to take part in it besides research studies. As long and all the pieces fall into place (insurance approving it etc.) Dan, Case and I will give them a vile of our blood. They will send it out to a lab that will look at is extensively. It will take about 6 months to get results and they made us very clear that the results could be hard to swallow or could be everything but "the syndrome". The events of yesterday got me to thinking that Case is a "beautiful thing". I've come to realize that if people would stop being so busy praying for a miracle for Case, they'd be able to stop and see the he IS the miracle. "He makes beautiful things..." and thank God we are blessed enough to have this "beautiful thing" as our son.


By the way, he rocked both appointments and blood work at CHP yesterday.:)

2 comments:

  1. I totally agree; he is a miracle!!

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  2. He is such a special little guy! I love this post, Liz! :)

    ReplyDelete