One of the biggest challenges my son and I face living with a Urea Cycle Disorder is keeping a balance with diet, medication, and health. It is akin to being a tightrope walker going across a canyon -- and keeping your balance pole steady. There has been some cognitive deterioration and mild brain trauma for my son, it was as a result of being in a hyperammonemic coma. Myself? From the decades of being undiagnosed, I also have some issues cognitively but am able to be productive.
Originally, during our crisis in December 2003, our son was misdiagnosed with Reye's Syndrome or Meningitis... he would not be alive today if it were not for a veteran Pediatric Neurologist who recalled back to his medical school days that this might be an Inborn Error of Metabolism. His hunch was correct and many months later, it was officially diagnosed by March 2004 to be an Urea Cycle Disorder.
Being hypervigilant against viruses, sticking to a low protein diet, and other daily stresses is part of the plan to keep your footing while on the tightrope. I would say since our 2004 diagnosis we both are now confident with sick day protocols, working full time, going to college, and not letting UCD win the battle. One huge help in our daily walk has been Ravicti. We are very appreciative of the grant from Good Days from CDF for obtaining Ravicti at an affordable cost.
My son and I participated in an Awareness Video for the Good Days from CDF's Annual Fundraising Gala at the Gaylord Texan Resort this past September 2014. Truthfully, our story is much more complicated than the brief YouTube video. However, it does illustrate the need for physicians to learn about our rare (genetic) disease.
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