Our story with PA begins with a phone call on our son’s third day of life. Up
to that point things had been relatively smooth. It had been a year and a half since we began the process of adopting a child, and a little more than two months since we met with a birth mom who chose us as the adoptive family for her son. The joy we felt when we finally held that beautiful baby boy in our arms for the first time was indescribable. Things were like a whirlwind – emotions, social workers and family phone calls all passed in a blur. There were a few warning signs: he was hypothermic and gagged at almost every feed, but these things were explained as “normal” by the nurses and our minds were set at ease.
Early on the third day I received a phone call from our adoption case worker that overnight Julien had been taken to the NICU as a precautionary measure because the overnight nurse had seen some things that caused concern. Throughout the day things only got worse. With each new phone call we learned about a new piece of what was being done to care for our child and nothing sounded good. By the time we arrived at the hospital late that afternoon Julien had been in the NICU for more than 12 hours. He had been intubated because of respiratory distress and was hooked up to more medical equipment than seemed possible with a body as small as his. I’ll never forget the NICU doc saying to us as we met late that night that they suspected a metabolic deficiency, and that depending on which one it was he would not be able survive.
Julien was transferred to Children’s Hospital that night where the genetics team handling his blood work was stationed. Over the next ten days we alternated with the birth mother to make sure that someone was there for J almost all the time as we waited for a diagnosis and a plan to care for him. Propionic Acidemia was the second diagnosis we were given. I remember being grateful for this because PA was much easier to pronounce than what they suspected initially. Long days in the NICU and long nights at home wishing we were with him in the hospital were spent reading website after website as well as hospital printouts to learn everything we could about PA and its effects on the children who are born with this condition. Knowledge felt empowering and overwhelming at the same time.
Julien was released from the hospital 10 days after his birth. We were once again filled with joy to be finally coming home – all 3 of us – and anxious about trying to manage him while feeling alone. We were first time parents, and now none of the stuff we had read about what to expect applied. We followed the plan given to us by our doctors, worked to make sure that the schedule of feeds provided by our nutritionists was implemented and prepared for the inevitable fatigue of the months in front of us.
Julien managed the first year fairly well. He was a great eater at first and his care was relatively easy. Other than having to follow the carefully regimented schedule (even overnight) we charted everything that went in and everything that came out. We tracked meds, supplements, formula and attitude. We met with our genetics team each month, giving careful updates and watching for any warning signs. We met with a pediatric cardiologist and established baselines for J so that we would have a standard by which to check him should anything come up in the future. We did have a few hospital stays as he battled colds and other illnesses that brought on metabolic crises. Twice he came home with an NG tube so that we could continue to manage his feeds and meds until his appetite returned.
Over time his appetite diminished to the point that we proceeded with a G tube placement at 11 months. We also participated in a research study to test Carbaglu and whether or not it would help keep J’s ammonias down to a level that was closer to normal. Some of our conversations with doctors have been quite unnerving – like when we talk about the possibility of a liver transplant. Some of them are very encouraging as we track his development and learn more about how his body is able to handle the effects of PA.
For now Julien is a relatively healthy, very happy 15 month old little boy. He receives Early Intervention services (OT, PT, and DT) and he is testing about 3 months delayed. He has in incredibly goofy sense of humor, loves to cruise around the house, explore whatever sits below a three foot height and babbles constantly. He’s never met a person he didn’t like and is a constant source of joy. We are so proud of him – not just as our son, but also because of the incredible battle he has waged since those first couple of days. When we picked Julien’s name we did so because of the meaning behind it. When you put J’s first and middle names together you get the meaning of “young warrior.” We chose this for him because as a transracially adopted child we knew he would face some tough circumstances. We had no idea the physical battle he was going to face, but he has proven himself worthy of his name time and time again.
We cannot fully express the joy we feel to have Julien as our son. The privilege of adoption is an incredible one and no medical diagnosis can change that. We believe that God is working his plan for our lives through all of this, and even when it is not exactly the way we would choose if we could, we are grateful that he brought Julien to us and we’re excited about the life ahead of us.