We can’t always know how our life experiences may affect our paths or how our
lives may intertwine with those most important to us.I don’t remember having a liver transplant. I don’t remember battling the original disease which I was born with. But that’s because it all happened before I was one year old. I inherited a urea cycle disorder called CPS1 Deficiency, or ‘carbamoyl phosphate synthetase I deficiency’.
I had a perfect liver except for one missing enzyme, and that one enzyme was necessary for life. To avoid having ammonia accumulate in my blood (hyperammonemia), causing brain damage or death, my ‘routine’ was a protein-free diet, special medications, visits to the endocrine clinic, and many Emergency Room visits and ICU stays during life-threatening crises. This lifestyle, anything but ‘routine’, kept me alive for 11 months until my transplant at Children’s Hospital of Pittsburgh cured me of my illness.
I know that my family carries those memories for me, not only the terrifying ones but also the joyful ones, like celebrating my first birthday at the hospital with my medical team, my family and a very good cake, the first that I had ever tasted. The part of my childhood that I do remember is all pretty normal. Sure, I have regular blood tests which I have ‘almost’ gotten used to, and a few liver biopsies, but thanks to a very successful transplant, I’ve been able to do anything that almost anyone else could do (I still can’t rip a phone book in half or recite a 20 digit code told to me a week ago, but nobody’s perfect).
I will always need to monitor my liver’s health and I may take medications, to slow or hopefully inhibit organ rejection, the rest of my life, but considering the poor prognosis for CPS1 patients, I lead a very fortunate and healthy life
