Lets talk about you hanging on by a thread first. You are not alone. I know it must feel that way, but many parents have faced an uncertain diagnosis in their child and come to be very frustrated when there are no immediate answers.
You can connect with some of these parents through the Genetic Alliance and their network of advocate organizations. It may help to find someone who has been in your shoes and can relate to your situation in a way no one else can.
In terms of what is going on with your daughter, there are several conditions that can also give elevated citrulline levels. Although you have given a lot of information above, evaluating the possibilities is going to be most productive and avoid a lot of guessing when done with an M.D. specialist who has complete access to your daughter’s medical records and lab tests. He or she will get a picture of what has been done and what hasn’t. It is always ok to get a second or third opinion. Seek out a specialist in metabolic disorders. While this is often a medical geneticist, not all medical geneticists specialize in metabolic disorders, and other specialists can be versed in metabolic conditions as well.
The American College of Medical Genetics is a resource to find a specialist.
Thank you very much for your response. I have a strong feeling that it's not citrullinemia and we have found a well known specialist to talk to and perhaps see (gotta contact the insurance company). Also thanks for the suggestion of the Genetic Alliance group; I'll check them out.
I have looked at many scientific articles regarding other possible origins for elevated citrulline levels but I was hoping you may be able to list a few reasons you have heard of so I can be a little more prepared for me meeting with the other specialist. Of course I would not change anything about my child's treatment but was just hoping for some names of disorders/reasons.
This site is a great resource so thanks for being here!