About Case.

Case is our fourth child. He has 3 sisters. At 22 weeks pregnant I had a routine ultrasound. The tech seemed calm, ordinary. She said we were having another girl. We named her Parker. "She" was healthy. Typical. Fine. A week or two after that "normal" ultrasound we got a call. There was a spot on our "baby girl's" heart and one on "her" kidney. Not a big deal. At about 25 weeks of Pregnancy, We had a second level sonogram about an hour away from our home.  I was told our baby would be different. Very different.

It's limbs were way behind in growth. It had heart problems, kidney problems, and was small. Very small. The doctor strongly suspected Down syndrome or Trisomy. He did an amnio. I cried. He told me this was not my fault. I was doing everything I could. The baby was just made different.

Two and a half weeks later, I got a call. I was there, in that hotel. On a mini "getaway" with the family. The doctor called and said he didn't have down syndrome or trisomy but that he was still a very sick BOY and they would run more tests.

We went to several appointments and two+ second level sonograms every month. Somewhere in the midst of the chaos, I would remind myself to take it moment by moment, day by day.

With every sonogram, the news got worse. The baby was way behind in growth. 11 weeks. The kidney was bad, the heart  was bad. There was one problem after another. On December 8th (about one month before my due date), we spent all day talking to specialists and doing sonograms at Magee Hospital in Pittsburgh (about one hour away from our home).

It was there that he said it. "Your child has too much wrong with it. It will probably die. It was just made wrong. It's computer programing is messed up." Those words cut like a knife. I will never forget that cold December day and our 8+ hours of gloom. On December 20th we had another second level sonogram in Johnstown. I didn't want to go. I was done, not with my baby but with the doom and gloom reports from the doctors. With "expecting the worse and hoping for the best". With the painful thoughts that our baby didn't have a fighting chance. We went. It turned to be a damn good thing we did. Our baby was dying inside of me. His chord blood and amniotic fluid were dangerously low. After what seemed like hours of non stress tests we were cleared to drive straight to Magee. I hugged the doctor from Johnstown and cried. Again. Once we arrived at Magee I had more sonograms, non stress tests and a horrible migraine. Towards the end of the non stress tests, his heart rate started dropping. It dropped to 24. An alarm sounded and I said goodbye to my boy. After all, he belonged to God and for some reason, it looked like God would keep him. I told him I loved him and it was okay to go but I'd really like to meet him. Doctors and nurses rushed in. Case stabilized. They admitted me to a room and did a c-secton in the morning.

We were so scared. They pulled him out and wouldn't let his daddy look at him. There were dozens of people crowded around him. You see, before birth they made him out to be a sort of freak. He was not. When they finally brought him to my face, he was BEAUTIFUL. 

All 2 pounds, 13 ounces of him. He was less than 4 weeks early but due to IUGR and an undiagnosed syndrome, he was so tiny. They life flighted him to Children's of Pittsburgh, only 7 minutes away. It took 3 days till we could hold him then it was only for 15 minutes a day.

After 38 days at Children's Case was 4 pounds 1 ounce and we went home.

Fast forward to now.

Case is 23 months old. He still has an undiagnosed syndrome. He is fed through a J feeding tube 22 hours a day. He is only 17 pounds (the size of a 6 month old). He has 22+ doctors, specialists, and therapists. He has Brain stem abnormalities, A Stenosis of the Foraman Magnum, low muscle tone in the right side of his face, a sub mucus cleft pallet, narrowing in the back of his throat, Swallowing isseues, problems with his left ear, slow motility, GERD, aspiration issues, A VSD, ASD, and PFO that are resolving themselves, other abnormalities of the heart, a tethered cord that was untethered, several other birth defects. a dysplastic, multi-cystic, left kidney, fluid in the right kidney, keratosis pilaris, Failure to thrive and probably something I am forgetting. He will have his 5th surgery on December 12th (just shortly before his 2nd birthday and more in the furture. He is behind in speech and a bit in hitting other milestones. He eats very, very little but is kept alive with his feeds. It seems every month or so, they find something new and add a new doctor. They have a great big, scary test out now to find a "main diagnosis", the Whole exome Sequencing test. It will take 4-6 months to get results. Results should be her in March.

After all of this. All of the tears, all of the prayers, all of the tests, trials and blessings it's more clear than EVER. CASE is CASE. Perfect. Made different for a VERY SPECIAL REASON. He has touched hundreds. maybe thousands of hearts and has made more friends in 23 months then most will in two lifetimes. You see, what the doctors didn't know is that his "computer programing" wasn't "messed up", it was different. And what they also didn't tell me is that DIFFERENT ISN'T DEFECTIVE, IT IS BEAUTIFUL. In all of this, God is sovereign and has given us EXACTLY what we have asked for, His beautiful will, no matter what it looks like and a gorgeous, important soul to watch grow and thrive..

5-30-15

 

Taken from Case's facebook page:

 

Case Daniel is four (he was born 12-21-10) with an "undiagnosed syndrome".
-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 interveniouly 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's currently 25 pounds and 34 inches tall.
-He started growth hormone therapy in March, 20015. He gets daily shots indefinitely (assuming they work).
-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, intestinal failure and gastroparasis, he had his central line placed 1-20-15.
-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.

We were told before birth, he was not expected to live through birth and was born vi emergency C-section at almost 37 weeks only 2 pounds 13 ounces 13 inches due to sever IUGR and his may complications.....


Case has under gone an extensive genetics test called, the Whole Exome Sequencing Test which came back with no known syndrome. Currently, there is a very extensive test Called the Whole Gnome Sequencing test being done.... He has also undergone countless other blood tests and to this day remains undiagnosed...
He has spent countless days in-patient including 6 weeks in the NICU and goes to CHP between 1-4 times every month to see some of his 20+ drs., specialists or therapists or to have x-rays and other tests. His 13th surgery was in January with more to come. He's been seated 7 other times for extensive testing.

He also has Physical Therapy, Occupational Therapy and Speech Therapy several times a month while attending his IU preschool (when he is well and not in the hospital)