Case is a patient, brave, and sensitive eight-year-old boy. He resides in Johnstown, Pennsylvania with his mom, Liz, his dad, Dan, and his sisters, Meredith (15), Samantha (13), and Lainey (10). Case loves spending time at home with his dog, Taco, being around his doting family, and working on his artwork. Case has a remarkable testimony of perseverance and strength. His fighting spirit continues to keep him and his family full of hope and determination.
After three healthy babies, Liz and Dan expected their fourth to follow suit. The 8-to-10-week sonogram showed number four was developing healthily, and the gender ultrasound revealed the baby as a healthy girl. A couple weeks later, after reviewing the sonogram, the radiologist saw a spot on the baby’s kidney and heart and sent Liz to a specialty high-risk obstetrician to receive a 3D sonogram.
After the 3D sonogram, the doctor reported a lot of issues. “I just remember being super overwhelmed with the amount of problems he was finding,” Liz says. “He had kidney problems, he has heart defects, he has short limbs, short legs, short stature. They said it looked like he had Trisomy 13, he had markings for a lot of symptomatic issues. We had a very sick baby.”
The doctor wanted Liz to have an amniocentesis completed so that they could see what they were dealing with and treat the baby the best way possible. The results of the amniocentesis found that the baby did not have Trisomy 13 and that the baby was actually a boy, and also revealed other health concerns. They began seeing specialists in Pittsburgh and would have four sonograms every month until it was time to deliver the baby. “The sonograms were very long and hard. They were never ever better. He was always sicker,” Liz says. At one sonogram appointment the doctors said to Liz, “If your baby were a computer program it was put together wrong. Your baby is wired completely opposite of how the baby should be wired. We don’t expect your baby to survive birth. If your baby survives birth, he will have a low quality of life. We don’t know what we’re looking at.”
Liz and Dan kept receiving bad news with each sonogram and eventually the doctors suggested the family make burial plans for their baby. One of the last sonograms showed that the baby’s cord blood was dangerously low and when the cord blood would flow the baby’s heart would stop beating. Liz was sent in for a non-stress test and was cleared to drive to the hospital where they would deliver the baby. The doctors wanted Liz to have a c-section since they did not think the baby would be healthy enough to survive the delivery. At one point, the baby’s heart rate dropped to 24 beats per minute and Liz was convinced this was the end. The doctors and nurses rushed in and were able to stabilize him and planned for the c-section to begin the following morning.
Case was delivered the next morning, four weeks premature, by c-section and unexpectedly cried out to the room full of doctors, nurses, and specialists who had been waiting for him. Liz and Dan were unable to see Case right away as he was whisked away to be examined. He was two pounds thirteen ounces and almost fourteen inches long. Liz shares, “They brought him over and I asked if I could kiss him, and my arms were still strapped down and the nurse quickly pulled the front of the blanket down so I could kiss the whole way down his chest because I didn’t know what was going to happen after they took him.”
Case had IVs placed and was incubated and life-flighted to the Children’s Hospital of Pittsburgh. He was in the NICU for forty days. While at the NICU, he was receiving a lot of different therapies and genetic tests ran. “The NICU is its own beast. It can be beautiful and wonderful and hard and scary. I never felt like he was mine while there,” Liz says. The genetic tests were not able to identify a known syndrome, but doctors diagnosed Case as failure to thrive with skeletal deformities, a multi-cystic non-functioning left kidney, and hyrdonephosis in his right kidney.
Case came home when he was a little over a month-old weighing four pounds one ounce. At this point the doctors were saying the baby was just small and would survive, but Case began having issues with eating, and every specialist they saw found more issues with him. “Every few months they found another diagnosis. They still haven’t found a main syndrome,” Liz explains.
Case continued to struggle with eating and subsequently was not growing. As a nine pound 11-month-old, a g tube was placed to help Case receive necessary nutrition. Doctors soon discovered he had a sub-mucous cleft palate and craniosynostosis which led to a full cranial vault repair. He also had a tethered spinal cord; this is when the spinal cord is connected to the vertebrae at the bottom and pulls the brain down causing Chiari malformation. They were able to unclip his tethered spinal cord and reconstruct his skull. Case had seven urological surgeries, three of which failed. Feeding continued to get worse and he was vomiting sometimes up to 12 times a day.
In 2016, Case received extensive motility testing, but due to an insurance issue he could only receive some of the testing. The tests showed Case had pseudo obstruction in the intestines and neuropathic dysmotility disorder, which is very rare. Liz explains, “They put ten tubes into the feeding tube hole that he had, into the intestines and small bowel and large bowel and they shot water out. For six hours they watched how his intestines and stomach reacted to the water. It showed when it is in the stomach it will dump it into the intestines, but then the intestines will contract so viciously that it will often push it back into the stomach, so his intestines are contracting all of the time.”
When Case was three-and-a-half years old he had a central line put in and was put on TPN (total parenteral nutrition), a method of feeding that bypasses the gastrointestinal tract. Fluids are given into a vein to provide most of the nutrients the body needs. TPN was not a long-term solution, and Liz shares that, “A central line is so terrifying. They put it right in the vein by the heart and that is what you feed your child through and it’s really intimidating and really hard.” Case had this central line for several years.
After experiencing major issues when attempting to wean off of TPN, a sonogram showed that Case’s intestines had collided inside of themselves and were stuck, causing a blockage. “He was really, really sick,” Liz shares, and at this point Case was not allowed to have anything by mouth. He went through several months of chronic pain and sickness and was 100% TPN dependent for a month before they started to reintroduce feeds.
Several months later, Case had a fever of 104 degrees and was very lethargic. He was rushed to the hospital and was unresponsive with a temperature of 105 degrees. Case was rapidly declining. “He couldn’t talk back to me. I said, ‘I love you’ and he couldn’t say, ‘I love you too’,” Liz shares. They learned that his port was infected, and he went into septic shock. The next morning Liz advocated for the port to come out immediately. Case’s temperature was still very high, and infections were raging through his bloodstream. They took him to have the port taken out and behind the port was his central line. The central line had been in his body for so long that it had started to fuse to the vein and promote infection. Doctors were able to successfully dig the line out, but it took several days before they could put a new line in. Eventually, Case’s body was able to recover, and a new central line was placed. Case has since been weaned from TPN.
Today, Case goes to school, he has friends, and is supported and loved by his family, friends, and community. He will eventually need more surgeries, but for now he is happy and thriving. He is on twelve hours of tube feeds through a tube that goes straight into his intestines and does also eat some by mouth. He is on several medications that he receives four times a day and also receives daily growth hormone shots. There is currently no cure for his intestinal disease, when it does flare up, the doctors can only attempt to get it under control. Liz shares, “He is always going to be little and there are always going to be different things that are going to be different setbacks. The biggest battle is always going to be feeding and growing and thriving well.”
Currently, there is no known syndrome connecting all of Case’s conditions and he subsequently remains undiagnosed. Liz says, “One of our favorite GI doctors said to us, ‘Treating your son is like walking through the woods with a blindfold on.’” Case and his family will be going to National Institutes of Health in Maryland to visit the Undiagnosed Disease Center in hopes of finally receiving some answers.
No one knows what to expect next for Case, but they do know that with his ‘can do and will do’ attitude that he will push forward. Case’s family is also pushing forward. They live their life boldly and loudly by traveling the world and going after their passions. They stand alongside other families who are walking similar roads, they love each other strongly, and cheer each other on. Case and his family exhibit all the qualities that Go Shout Love proudly stands for. It is our hope you will get to know this family better this month and walk away better for it.
Time to get loud shouters!
Throughout the month of October, we will be shouting love for Case and three other Pittsburgh area families. It is a great honor to be able to tell Case’s story and we hope you will join us in getting to know him and his family.
Click here to shop now where every purchase will go towards travel costs for Case’s treatment and needed medications. You can also start a monthly subscription and shout love for great families each month!
Join us in shouting loud for Case!