Hi Khalid, We have a granddaughter we've been raising who also has citrullinemia. She's 13 years old now, I still can't believe it. Yes this has to be the hardest thing to live with on a daily basis for the parents. Vigilance saves brain cells and life. Knowledge in the medical field has improved immensely in 13 years in the US but we still deal with doctors who know nothing about how to treat it but aren't willing to listen to a parent tell them what should be done.
I do know that having citrullinemia does qualify the patient here to receive a liver transplant, it is a life threatening disorder with way too many variables to positively say you can control it daily, we just do our best at that and pray a lot! I do know that when the kids hit puberty it can be a whole new ball game as is the case with our girl. We had very good control after the first couple years and fear kept me from having her transplanted. I figured she was doing so well with all we were doing that I wasn't going to rock the boat. She is also profoundly Autistic with some brain damage so we had our hands full and much to work on. Well time flies and here we are at 13 and puberty is kicking our butt. Control is out the window and life for her is no longer happy and fun for the most part. So we also are pursing a liver transplant. It is a very personal decision and only you will know when it is right for your family. My advice is to research where it would be done, that is the biggest thing. Have you contacted the National Urea Cycle Disorder Foundation? Try the website www.nucdf.org they are a wonderful group of families who are also living with this.
Best of Everything to your family and know there are shoulders to lean on here.
Karen Worley