On May 17th, 2024, we welcomed our 3rd son, Pruitt, meaning Brave Little One, into the world! The delivery went smoothly, he latched & nursed perfectly fine from the get-go while on the postpartum floor at the hospital. On May 19th, we brought our seemingly healthy baby home & began our lives as a family of 5.
However, our world forever changed early in the morning on May 20th when our Pruitt began to refuse to latch. He then began making uncomfortable grunting sounds while breathing. We rushed him to the hospital & were admitted to the ED where they began to do a septic work-up on him. On the way to have a CT scan, he coded & required rapid response with intubation. We were then admitted to PICU where blood, urine, & CSF cultures were pending. All his symptoms pointed towards a bacterial or viral infection.
After over 24 hours of cultures coming back negative, the genetics team was consulted. On May 22nd, the Geneticist ordered an ammonia level to be obtained. We were shocked to learn that the ammonia level was 1256 uMol/L (normal range= below <72 uMol/L)! Due to hyperammonemia there was concern for potential inborn error of metabolism, specifically a urea cycle defect, so they set up CRRT to remove the excess ammonia.
On May 24th, Pruitt was diagnosed with Ornithine Transcarbamylase (OTC) Deficiency. This is a rare X-linked genetic disorder characterized by complete or partial lack of an enzyme that plays a role in the breakdown & removal of nitrogen in the body, a process known as the urea cycle. The lack of the OTC enzyme results in an excessive accumulation of nitrogen, in the form of ammonia, when proteins are broken down. Excess ammonia is toxic to the body, causing progressive health issues. On May 27th we got verbal confirmation that Jordan was a carrier of the gene. This was a huge surprise because she has been asymptomatic her entire life. She also labored & delivered two healthy boys with no complications.
On May 28th, Pruitt had his 1st MRI, & the neurologist was concerned about the bright spots showing on the images but mentioned that baby’s brains can sometimes regenerate. On June 2nd, Pruitt finally ditched the breathing tube, & we got to hold our little boy again. That felt like a long time coming. Another MRI was completed on June 6th, which showed that nothing had regenerated, & more areas were shown to be affected. A third MRI was conducted a month later & the findings suggested extensive supratentorial brain injury.
On June 10th, our other 2 sons got swabbed to test for OTC as well. We later got confirmation that both results were negative. What a relief! Pruitt was put on dialysis over a handful of times throughout his initial hospital stay while attempting to get a nutritional plan in place. Nevertheless, we finally found a feeding regimen that worked for him. At the end of June, we were moved from PICU to the regular PED's floor where they continued to monitor & stabilize him.
We finally got discharged from the children’s hospital on June 28th. On August 27th Pruitt had his GJ surgery & a permanent port was placed in his chest. The port allowed medical staff to obtain labs more easily & hook up Ammonul more quickly to bring ammonia levels down if they were to rise.
In his short 6 months of life Pruitt was monitored with weekly ammonia & amino acid checks, as well as weight checks to determine if his feeding & medication regimen needed to be adjusted. Some weeks were more than once-a-week checks due to elevated ammonia. He was hospitalized monthly for high ammonia levels & his medications were constantly being increased. At 5 months he was evaluated for a liver transplant, but he never got the opportunity for a liver transplant. Pruitt was admitted for his final hospital stay on November 7th with rhino-entero virus & passed away November 22nd at 6 months old due to hyperammonemia & multi-organ failure.
