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.
Clay was born on June 5th and was otherwise a healthy baby boy. All of his normal tests came back fine and he was discharged 48 hours later. He was never a great eater, but was a good sleeper. His sister wasn’t a great eater to begin her life, so we didn’t think much of that and thought we were just lucky that we had a kid that likes to sleep from day one. In retrospect, these were all signs of what was going on in his body. The evening of June 7th, we finally got him to drink a whole bottle of formula around 7 PM and we put him to bed around 9 PM. We tried to wake him around 10 PM to feed him again, but he was listless, pale, and sweaty and we knew something was wrong. Stacie called the on-call pediatrician and they told us to take him to the ER immediately. We took him to Southwest ER as that is the closest to us where a transport to Rainbow was called immediately. Southwest started fluids and antibiotics while we waited what seemed like an eternity as things rapidly deteriorated.
Once at Rainbow, he was admitted to the NICU where tests were done to see what was causing his issues. The assumption was a bad infection or virus, but they tested everything just to make sure. The tests showed his elevated ammonia levels and he was transferred to the PICU to begin hemodialysis to clean out the ammonia from his blood. The process was off and on for about a week as three day olds just aren’t built for dialysis. The machine had to be run slowly due to his size, so it was prone to clot which would cause them to shut down everything and start again. There were other stops and starts when things like his body temp would drop to a dangerous level, or his blood pressure would drop too low, etc. Finally they were able to get his ammonia to a manageable level and let medications do the rest of the work.
Clay spent a little over three weeks in the PICU and another month or so on Rainbow 6 with some of the best pediatric nurses and doctors in the world caring for him. Since we have been home, Stacie and I have taken over for them as we administer medications, care for his g-tube and central line, mix his specific special formula for his regular feedings, and his physical therapies all while watching for any little sign that his ammonia levels may be increasing. Everything is a delicate balancing act to keep him out of the hospital until he gets his new liver.
We had his initial liver transplant evaluation at Children’s Hospital of Pittsburgh and are awaiting to get on the transplant list soon. Children’s is easily one of the best pediatric transplant hospitals in the world and their experience and knowledge is second to none. We were blown away by the transplant team there and our meetings put us at ease that we were going to be making the right decision by taking Clay there.
Clay has come a long way from it looking like the worst possible outcome to being at a spot where there is light at the end of the tunnel. A new liver corrects the metabolic defect he has, but the neurological damage from the elevated ammonia level is something that we will be working through for a long time, probably most of his life, and is our biggest unknown. We will keep everyone up to date here moving forward and thank you for all of your support so far and in the future.”
The Children’s Organ Transplant Association (COTA) helps children and young adults who need a life-saving transplant by providing fundraising assistance and family support. COTA is the nation’s only fundraising organization solely dedicated to raising life-saving dollars in honor of transplant-needy children and young adults. 100% of each contribution made to COTA in honor of our patients helps meet transplant-related expenses. COTA’s services are free to our families, and gifts to COTA are tax deductible to the fullest extent of the law.
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