October is Liver Awareness​ Month and it affects our life every single day as my son was born with a rare genetic disorder and lives with a donated liver by someone who believes in the gift of life.

Carbamoyl phosphate synthetase I deficiency (CPSID) is a rare inherited disorder characterized by complete or partial lack of the carbamoyl phosphate synthetase (CPS) enzyme. This is one of five enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle.

https://rarediseases.org/rare-diseases/carbamoyl-phosphate-synthetase-i-deficiency/

My youngest is 1 in 150-200,000 births affected by CPS 1 – and for the first 4 years of his life, it went undetected. Once we had a diagnosis, he underwent a treatment regimen to remove ammonia from his system through medication, a formula for amino-acids and a low-protein diet. Within a year, due to the severity of CPS 1, it became unmanageable and he had a liver transplant – and due to some unforeseen issues and challenges he ended up with three liver transplants in total in the span of 3 years between the ages 5 through 8.

October is Liver Awareness​ Month

Every year around this time, not only because its Liver Awareness Month but also because we are coming up on our first liver transplant anniversary, I like to take the time and share parts of his story.

He is now a thriving, funny, sassy and sarcastic 16 years old and I am in awe of how he handles the continued challenges that arise as he is also autistic combined with some other cognitive and developmental challenges which are a by-product of the late diagnosis of the CPS 1 urea cycle disorder. I don’t know if the autism is in fact related to the CPS 1 situation – but I do know that I recognized the symptoms early on when I wrote a paper about it in college. It’ll be up to the medical field to find a correlation (or not).

Liver Awareness Month is simply to highlight the journey of families like ours, and urea cycle is by far not the only disorder that affects the liver. But this is what I can share and talk about and make you aware of that without organ donation, my son would not be here today.

So if you are not an organ donor, please consider being on today!

And if you want to know more about his story, read the book Lennon Steps!