Our daughter was born early (almost 34 weeks) at 3 lbs and 3 oz. She was admitted to the NICU immediately, and we thought that the NICU would be the most difficult challenge we had to go through.
One day, as we were about to go back to the NICU, we received a call about an abnormal finding from the newborn screen. While my wife and I have a scientific background, we never paid much attention to citrulline. I cannot bear to recount all the agonizing details over the next few weeks. The gist was that an abnormal citrulline level could indicate Citrullinemia Type I or Type II, the latter being citrin deficiency, and the two have very different treatments. Type II was mostly unknown to the doctors treating our daughter at the time. The only way to know the type for sure was genetic testing, which would take about 3 weeks. They started treating her for Type I, as the consequence would be more dangerous if left untreated, but that required restricting protein, which in turn would increase carbohydrates in the diet. Over the next few weeks, she would have multiple blood draws everyday to monitor ammonia levels.
My wife and I read voraciously and started to realize that it was likely citrin deficiency, and not Type I. We reached out to Dr. Saheki, who graciously and immediately put us in touch with Dr. Oishi. That call with Dr. Oishi gave us hope that the condition was manageable and that our daughter could live a full life. After changing the diagnosis and treatment accordingly, our daughter was on a path to recovery, and she soon came home with us. She is now an energetic and curious 3.5 year old.
We are truly grateful to the Foundation for setting up this resource for patients and families to get through the bewildering information, for raising awareness with physicians globally, and for supporting research to find treatments and cures.
We are happy to connect with other families to learn from each other and share our experiences. As our daughter is growing up, we would love to learn from other families how they explain the topic to their children, help them cope with social pressure, and find the right mental and physical balance for themselves.
