2006 Mythical Ball - Thank You For Supporting NUCDF's Mission!

Today I bought a pinwheel for my son’s grave. I don’t think I will ever get used to the idea that I have to go to the cemetery to visit my son, Eric. He died from OTC deficiency, a disorder we had never even heard of. I watch my husband clean off the grave marker and straighten the  flowers, while our younger kids run through the grass with no idea where they are, or why Mommy and Daddy are crying. Someday we will have to explain to them the story that I am sharing with you today.

Eric was born the afternoon of July 11, 1998. I had long awaited the birth of my first child, and when I first held him it was nothing short of a miracle. He was a big boy, blond hair, my chin and mouth, and his Dad’s eyes. He was perfect. Truly, a little bit of heaven on earth. I could not believe we had a baby and that we were taking him home. My husband and I could never have imagined the nightmare that the next morning would bring.

We became very concerned about the way Eric was acting early that morning. He was lethargic and not breathing right. By 8 a.m. we were in the pediatrician’s office and within three hours he was admitted to the neonatal intensive care unit. As Eric slipped into coma, doctors were stumped. He underwent a battery of brain scans, EKGs and other tests. They had no idea what was wrong with our precious newborn son, who was only 48 hours old, or how to help him.

Finally, an answer came.

Eric suffered from a urea cycle enzyme disorder, ornithine transcarbamylase deficiency (OTC). He was missing a tiny but critical enzyme. The deficiency allowed a build up of ammonia to toxic levels in his body and brain. He had to be placed on life support. That’s when the doctors told us our son would not be going home.

On July 15, only four days after he came into this world, Eric Charles Johnson left it.  He was in my arms and surrounded by all the people who loved him.

It was from that moment on that I knew I had to raise awareness about Urea Cycle Disorders. This is a story no mother should have to repeat.
                                                   

My husband and I struggled to deal with this illness that quickly overtook our seemingly healthy newborn. Why were our doctors initially perplexed by his symptoms?  We came to learn that many children and adults with urea cycle disorders go undiagnosed or misdiagnosed, with tragic consequences, including brain damage, coma and death. Researchers believe that up to 20% of Sudden Infant Death Syndrome cases may be due to an undiagnosed inborn error of metabolism such as a urea cycle disorder. It affects as many as 1 in 20,000 births.

We also learned that if detected in time, this disorder is treatable!

Once we began to work through the grief and despair, we learned that the National Urea Cycle Disorders Foundation was leading the way to improve the future for families affected by this devastating disorder.

Because of the efforts of the Foundation, our families now have hope for the future and lives are being saved. NUCDF has stimulated and supported research by the best and brightest in the field, which in some cases has provided clues for other major diseases. Increased awareness and education has resulted in earlier diagnosis, and new testing and treatments have improved the lives of children and adults.