Urea Cycle Disorder – CPSI
My son was born at full-term and was a seemingly healthy beautiful baby. On day 3 of life, we noticed he was very lethargic – he was do for a checkup anyways and our pediatrician urged us to go back to the hospital. Several hours later, he was on ECMO, dialysis, etc. and we had no idea what was wrong with our child.
When they ran his blood panel, the immediate results showed that his ammonia level was over 1,000. Ammonia is processed in the liver, and helps break down protein; however, the ‘normal’ range is 15-30. Elevated levels of ammonia could lead to long-term brain damage, or even prove to be deadly if it goes untreated.
The doctors had formally diagnosed him with a Urea Cycle Disorder (UCD). It took 2 more weeks for the genetic testing results to come back that he has CPS1 (one of the rare-er forms of a UCD).
It is a very hard disease to manage due to the balance of consuming limited protein, but also getting enough protein for growth & development. The doctors said although there is no ‘treatment’ for CPS1, the alternative is to receive a liver transplant – which although it does get rid of CPS1, you then have a lifelong risk for possible health complications due to a suppressed immune system.
At 3 months old he was listed as 1B status for a liver transplant. Our family was living on eggshells, and I was a desperate mother who would do anything to help my child. I put out a plea on my Facebook page, as well as several community pages, asking for anyone and everyone to test and be a possible donor for my son.
About one month later we had found out that one of my college soccer teammates stepped forward and was a perfect match for my son. We were able to get a living donor, and limit our wait time. He was 4 months old – and he is doing fantastic now. We are nearing our 1 year liver anniversary post-transplant.
What our donor did for our son, was nothing short of a miracle. We are loving our new lifestyle and enjoy experiencing every milestone with him as an otherwise healthy beautiful boy.
I encourage everyone to register to be an organ donor. The gift of life is the greatest possible gift that could be received, and there are so many other people, including babies & children, waiting for their angel to step forward.
Find support groups – they will give so much strength, hope and real-life experiences.
Last Updated on August 6, 2020
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