Three Strange Words

Three Strange Words: Alpha-1 Antitrypsin Deficiency

Hello! I’m your guest blogger, Jen, every Friday in the month of October. I’ll be writing about my special little girls, Grace and Meghan, who were both born premature and also have a genetic disorder. This is my introduction.

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.” I remember feeling so relieved when she cried and wailed loudly, though.

In the previous two weeks, I had been on the severe pre-eclampsia roller coaster ride with sudden onset swelling/edema, dangerous high blood pressure, vision disturbances, and kidney failure issues, the worst headache of my life, 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.

In NICU with Gracie, we passed 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 and figured it had to do with being born premature.

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 asked 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 she nonchalantly uttered the words that changed our lives forever:

Alpha-1 Antitrypsin Deficiency.

Our world had been turned upside down by a premature baby, but now we were facing something life threatening. The doctor explained that Alpha-1 Antitrypsin Deficiency is a genetic disorder which originates as a problem in the liver, where the Alpha-1 protein is misfolded inside every liver cell. It then can get clogged inside those cells, and cause liver dysfunction. Because those Alpha-1 proteins are not available in the rest of the body (a.k.a. a deficiency) to perform their anti-inflammatory work by traveling in the bloodstream to the lungs, the lungs can sustain damage over time resulting in early onset emphysema. Liver and lung transplants are often a final result in early adulthood, but there are many researchers studying replacement therapies along with potential cures.

Looking at Gracie, 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. As her mommy, my primary job is to help her assimilate Alpha-1 into her everyday life.

Grace also has a younger sister, Meghan, who was also born premature at 27 weeks gestation and also has Alpha-1 Antitrypsin Deficiency. I promise to write more about Meghan next week. Grace and Meghan will have each other as they grow up as former preemies and children who have Alpha-1.

At the age of 6, Gracie is just beginning to understand that she has Alpha-1 and just what exactly that means. Only time will tell if Alpha-1 will ravage Grace’s liver or lungs, but my husband and I are dedicated to showing her that being a former preemie with sensory issues as well as Alpha-1 do not define her. Meanwhile, Charlie and I treat her like the precious gift that she is, remembering that Grace’s Alpha-1 liver and lungs are allowing her to live.

Unique But Not Alone

9 Responses to Three Strange Words