In April 2002, our Gracie entered the world screaming as loud as she possibly could. She’d just been “extracted” from her warm, soothing water world by the unexpected hands of a surgeon. It was as if she was saying, “Put me back in there.” But, I remember feeling so relieved when she cried and wailed loudly.

In the previous two weeks, I had been on the severe preeclampsia roller coaster ride with sudden onset swelling/edema (40+ pounds), dangerous high blood pressure, vision disturbances, and kidney failure issues, the worst headache of my life, and lots and lots of bed rest on my left side. I was only 34 weeks pregnant. It didn’t seem like life could be any scarier.

Well, the moment I saw my baby Gracie, I forgot about what I was experiencing. All that I could see, hear, or think about was Gracie, our gift from God. My husband, Charlie, was all grins, too.

Grace was born small for gestation because of my preeclampsia, weighing in at 3 pounds, 14.5 ounces. She had some difficulty breathing because she was a bit premature so she went straight to NICU.

About two weeks into Grace’s stay in the NICU, her neonatologist mentioned that something might be wrong with her gallbladder, and he wanted an ultrasound with some blood work. He was so casual about it that we didn’t think much of it since Gracie was being put through the gamut of NICU experiences anyway.

In NICU with Gracie, we passed some of the time by reading her chart from top to bottom. Most of the time, we didn’t know what we were looking at but did see abbreviations in the chart that had abnormal values. I can still picture that piece of paper in my mind. The letters AST, ALT, GGT, and Alk Phos had abnormal results. We both wondered what that meant.

We asked the doctor about the ultrasound results. He said they were normal. I also asked about her blood work. He said that premature babies often have abnormal blood work, but that he was calling in a specialist from our local Children’s Hospital to check her out just in case since her direct bilirubin was still elevated. 

I can’t remember the exact day that the gastroenterologist found us in the NICU, but I do remember Charlie and I were caught off guard and quite confused. The doctor kept asking us if any members of our families had ever had emphysema or liver issues. I didn’t know of any and neither did Charlie. I finally asked her, “Why?” Then came the words that changed our lives forever…Alpha-1 Antitrypsin Deficiency. I thought, “What did she just say? Did she just say genetic disorder? Alpha what? Possible liver transplant? Huh? How do you spell that? We carry what gene?”  

Well, Grace went home with us 23 days after she was born. She struggled to gain weight, took a battery of fat soluble vitamins, threw up quite a bit, and was generally a fussy baby. She eventually started to gain weight when she was about 6 months old. Her liver labs started to go in the right direction, and life just kept going on and on. 

Now, Grace is a healthy, almost 3 year old. Looking at her, you would never know that her liver doesn’t work properly and that her lungs need vigilant protection from cigarette smoke, pollution, and other irritants. Gracie doesn’t understand that she has a genetic disorder. All that she knows is that playing with toys, reading books, spending time with Mommy and Daddy and chasing our cat is what life is all about. Only time will tell if Alpha-1 will ravage Grace’s liver or lungs. Meanwhile, Charlie and I treat her like the precious gift that she is, remembering that Grace’s liver allows her to LIVE.