The information in 1995 was sporadic at best on urea cycle and even less on my defect, arginase deficiency.
Mindy told my parents about a doctor specializing in arginase deficiency at UCLA.
It was going to be a patient advocacy website that would hopefully benefit current and new patients with overcoming the greatest hurdle of having arginase deficiency.
Having a rare disease is challenging at best and arginase deficiency is no exception and I learned at a young age to always do my best with what has been given me.
As a family we are grateful for this opportunity to tell our story and hope that we can and will help other families with arginase deficiency and urea cycle disorders.
Arginase Deficiency has allowed us to do things that can and hopefully will help people with Arginase Deficiency and Urea Cycle disorders.
For example, children with spastic diplegic CP may look the same on neurological examination, but may have different etiologic antecedents, including brain injury associated with prematurity, brain malformation, specific genetic disease such as arginase deficiency
, or HIV/AIDS.