Minutes after our newest addition was born I held him in my arms and I started looking him over. I started searching for symptoms of the genetic condition our 4 year old has. I felt like I would just know if he was affected or not. As my husband looked at me and asked about his eyes, I said to him “he doesn’t have inverted nipples.” The nurses in the room were listening and looked at us a little peculiar. I’m sure they wondered why we were picking our beautiful boy apart looking for something “wrong” with him. I told them that we were looking for clues as to if our newest addition would be affected by congenital disorder of glycosylation. Once that was said they continued to do their jobs but the room was a little more quiet.
Days went by and our little guy was a wonderful eater and (in my eyes) so strong. I couldn’t believe how he could hold his tiny head up and push his legs against me while I was holding him. He had none of the physical symptoms his older brother has, but we know that not every child is the same and the spectrum of severity is huge. My heart said he was healthy but I didn’t dare say it out loud until the blood test was confirmed.
At 11 days old I took him in to the pediatrician for a terrible diaper rash, which turned out to be a staph infection. As I sat in the pediatricians office I did all I could not to lose it. I was immediately brought back to when our 4 year old had staph which ended with a long hospitalization and a picc line. No. This couldn’t be happening again. I kept silently praying, begging, while I held back the tears. The pediatrician sent photos to the NICU and every doctor in the office came to look at my sweet baby to give their expert opinion. IF he was affected by CDG this could get bad very fast so everyone was on edge. In this moment I waivered; was he healthy or was I just wishful thinking?
It was the longest wait; 3 weeks waiting for a phone call from the genetic counselor with his test results. 3 weeks of pushing back every vision of the future. 3 weeks of not allowing myself to wonder if I would ever hear him say “mom” or watching him take his first wobbly step. 3 weeks of shoving visions of him running around grandma’s pool with his brothers and cousins. 3 weeks of never dreaming.
The genetic counselor finally called. I immediately knew when I heard her voice. She had a lightness in her voice; happiness. She said “I’m calling with great news….” and I couldn’t stop the tears. She went on to say our son was a carrier and not affected for CDG. Words can’t even express the relief, joy, and weight that was lifted. For the last few weeks I felt like I was carrying so much worry and anxiety while pushing so many things aside.
And now I can dream all I want.