My youngest son was diagnosed with urea cycle disorder cps 1 and I am talking about it today because Rare Disease Day is February 28, but what does it mean, and how does this apply to our life?
Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is a rare autosomal recessive urea cycle disorder (UCD), which can lead to life-threatening hyperammonemia. Unless promptly treated, it can result in encephalopathy, coma, and death, or intellectual disability in surviving patients.PubMed.Gov
So why am I sharing with you about rare disease day? Well, the more people know about rare diseases and the impact it has on the lives of those that are impacted, the better. My initial blogging about my kid’s journey wasn’t really about bringing awareness to the world but to keeping family and friends updated near and far in one spot.
The thing is that UCD – CPS 1 is one of the more rare types of urea cycle disorders and my son was undiagnosed until he was 4 years old. Had there been more information, Lennon may have never suffered as much as he did and I’ll be honest, I will never be able to accurately convey how he suffered and no you wouldn’t know it looking at him today.
If you’re just finding out about Rare Disease Day and what’s being done to raise awareness:
Rare Disease Day events are down to hundreds of patient organizations all over the world that work on a local and national level to raise awareness for the rare disease community in their countries.Rare Disease Day
Meet the Rare Disease Community
I am forever grateful for the divine intervention that had me move to the Charlottesville area and connect us to UVA and the amazing medical team that has supposed my son over the years with the urea cycle disorder cps 1 and the liver transplants that followed.