Jacob had been home for 48 hours when we received the call from his pediatrician. “One of Jacob’s newborn screening tests came back positive. Please go to the hospital immediately. Tell admitting that you are there to see Dr. S.”
No parent ever wants to receive a call like that. It was a terrifying forty minute ride to the hospital in a nearby large city – our local hospital apparently did not have the resources to deal with whatever it was Jacob apparently had. I didn’t understand how my apparently perfect, healthy son needed to go to the hospital so urgently.
What ensued was six days in the NICU. J’s Daddy and I learned that we were both carriers of the recessive gene for citrullinemia, a urea cycle disorder, and Jacob had received both recessive copies. His body was unable to make an enzyme necessary to process proteins and remove ammonia from the body, putting him at risk for neurological damage. Thanks to modern medicine and a veritable army of prayer warriors, his ammonia levels were not dangerously high.
Still, it was a terrible week. Jacob was hooked up to monitors for six of the first twelve days of his life. He was put on a special formula combined with a little bit of pumped breastmilk, and he had many blood draws to test his ammonia levels and see how much natural protein he could tolerate. We calculated that he had been stuck about 40 times, and every time we feared that his ammonia would shoot up. It didn’t. We met with our amazing team – a metabolic geneticist and dietician – every day. Bleary-eyed, Daddy and I traded night shifts so that Jacob would never have to be alone. Finally, after recovering from surgery to put in a gastric tube to deliver his medicine, Jacob was released on Valentine’s Day.
Children like Jacob with urea cycle disorders need to follow very strict diets to manage their condition. I have a gram scale in my kitchen to measure his formula. Jacob will always be one mouthful away from a crisis. So, instead of returning to work and putting Jacob in day care, Daddy and I decided that I would stay home for at least the first few years. All of a sudden I went from a promising career in private school administration to being a stay-at-home mom. I was strangely thrilled. What an amazing gift to be able to care for this unique little boy. His condition may occur once in 57,000 births, but he is the only him that will ever live. How lucky am I to get to know him inside and out?
The most important thing I know about citrullinemia is that I don’t know what to expect. The condition is so rare and hospitals only began screening for it in the last ten years or so. There are very few children out there with a successfully managed case. So, I’m thinking of this blog as an anecdotal case study of sorts. But it is also a place to connect with the wider world as I go about the delightful challenge of raising my new little man.