This morning I watched my son get on the bus to preschool. I waved goodbye with tears in my eyes. “I love you CJ — have a great day.” I was filled with joy to say that kind of goodbye; less than one year ago, I thought I would say goodbye forever.

When CJ was a year old, he was diagnosed with OTC deficiency — a urea cycle disorder. Thankfully, CJ was diagnosed before the disorder took his life. His liver is missing an enzyme responsible for removing ammonia from the bloodstream. Without the enzyme, ammonia reaches the brain, placing CJ in constant risk of brain damage, coma or death. The disorder affects as many as 1 in 20,000 births, and fatal if not detect in time.

In order to lower critical elevations of ammonia in his blood, CJ has endured many hospital stays. I believed hospital stays would always be routine — blood work, IV fluids, maybe an overnight stay, & then home. I was very wrong. Two weeks before Thanksgiving 2006, CJ started vomiting & became lethargic. We knew these were dangerous signs & required immediate intervention. CJ’s ammonia level was catastrophically high. He was admitted to the hospital for IV treatment & doctors monitored his ammonia levels every four hours, but CJ began screaming, hallucinating and had lost his vision.

Doctors told us his ammonia level was still rising, and moved him to pediatric intensive care immediately. I thought to myself, “He’s going to die…” and in fact at one point during his hallucinations, CJ said bye-bye to his grandmother. In intensive care he was given special IV medication and his ammonia levels began to drop, but CJ was still not recovering to his normal self. Doctors were at a loss as to why CJ was not recovering. Perplexed and scared, we contacted the National Urea Cycle Disorders Foundation for help. We were immediately given valuable information that helped pull CJ out of crisis. After a few days, he was our old CJ again. We know in our hearts it could have turned out much differently.

This is life for our family. We live in constant vigilance, looking for warning signs that indicate CJ’s ammonia is rising. We learned to recognize life-saving early signs from NUCDF, and we have an overnight bag packed, ready to take CJ to the emergency room at a moment’s notice. We are comforted knowing NUCDF is ready to provide support, education and information to us and CJ’s doctors.

We know that NUCDF is helping other families like ours with this disorder all over the world. Because of the Foundation’s efforts, our families have hope for the future. NUCDF is helping find answers by supporting cutting-edge research and is saving children’s lives by raising awareness and educating healthcare professionals about early detection & treatment.