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.

Sunday, October 30, 2011

Frequently asked questions.


Since I started this blog well after Case was born I thought I'd make a post incase some of the readers aren't exactly sure what is really going on with this sweet boy.

How preemie was he?
Case was less than 4 weeks early according to my latest due date (they pushed his due date back a week or so because he was measuring small).

How much did he weigh at birth?
Case was born on December 21, 2010 at 2 pounds, 13 ounces.

How long did he stay at the hospital after birth?
38 days.

What exactly is wrong with him?
I think he's perfect.:) Case was born with several congenital anomalies.
*IUGR Intra Uterine Growth Restriction. This was possibly due to his umbilical cord and the placenta being abnormally small.
*Failure to thrive. A scary way of saying he isn't growing as much as the doctors would like him to.
*Severe Hypospadias which will be fixed with surgery.
*Cryptorchidism which will also be fixed with surgery. *Update: This was fixed on 7-9-12
*One multi-cystic dysplastic kidney that does not function.
*A resolved VSD and ASD.

PROBLEMS THAT DEVELOPED (or been found) SINCE HIS BIRTH:

*Gastroesophageal reflux disease (GERD) 
*Hyper gag reflex
*A PFO.
* Sacral Dimple
* Submucous Cleft Pallet
Keratosis pilaris (Chronic Skin condition)
* Slow motility. 
* Case is J tube fed 22 hours a day.
*Tethered cord *Update* Tethered cord was released via surgery on October 29th, 2012.
*Abnormalities of his brain stem
*Senosis of the Foramen Magnum (the hole his spinal cord goes into is small)
* Found that his left ear drum does not vibrate due to fluid behind it. 

Does he have any other surgeries coming up?
It's looking like he will need a g-tube placed in the near future.
*Update. Case had a g-tube placed and a Nissen fundoplication on November 22, 2011. He spent 5 days as an inpatient. Yes, him and I celebrated THanksgiving in the Children's Hospital.:)
* Update: Case had his G tube changed to a GJ on June 22nd, 2012 due to vomiting and intolerance.
*Update. Case had the first of four surgeries to fix his boy parts on March 2nd, 2012. He spent only one night inpatient. His next surgery in that "department" is July 9th, 2012.
* Update: Case will have his 3rd of four surgeries "in that department" on December, 12th 2012.
This is a total of 5 surgeries. He will have more in the future.

Who all does he see?
1. Cardiology (only once a year).
2. Endocrinology
3. Urology
4. Nephrology
5. Genetics
6. Gastroenterology
7. Our local pediatrician
8. One physical Therapist
9. Occupational therapist (to help with eating issues)
10. The feeding team at Children's
11. A nutritionist.
12. Cranio-Facial.
13. The surgeon that placed his Mic-key and did his Nissen Fundoplication.
14. Dental Clinic at Children's
15. The Dermatologist at CHP.
16. Orthopedic Surgeon.
17. A speech therapist.
18. Neurosurgery
19. ENT (ear nose and throat specialists)
20. Neurology.

Does he have a syndrome?
They have him diagnosed as "having an underlying syndrome" they just haven't found it yet.
*Update: They are starting to look more vigourously for said syndrome and started a Whole Exome Sequencing test in October, 2012. It will take 4-6 months to get any results.


Is he meeting all his milestones?
Mostly.

How do you feel about all of this?
Blessed.

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