COTA for Clay

As written by Matt & Stacie:  “This page is dedicated our son Clayton, and his journey through CPS-1 deficiency. CPS-1 is an extremely rare urea cycle disorder that effects about 1 in 1.3 million births. The CPS-1 gene is one of the two, with NAGS, responsible for starting the urea cycle. CPS-1 deficiency is inherited at birth when a mutated copy of the gene is provided by both parents, meaning that both Stacie and I are carriers. The exact diagnosis is only possible through specific genetic testing. The urea cycle is the part of the body that helps process proteins, specifically the elimination of the waste product created by digesting proteins. When the urea cycle is compromised, it causes ammonia to build up in the blood stream, which is highly toxic to the brain and is fatal if left untreated. When Clayton was tested upon admission to Rainbow Babies and Children’s Hospital, his ammonia levels were somewhere around 2200, with normal being under 50. There are medications to keep the ammonia levels in his body under control for a while, but the only long term “cure” to CPS-1 is for a liver transplant.