As I sorted through the mound of "paper nightmare" which had been stowed away in a drawer, I tossed various papers into the recycling bin. My finger stumbled upon a crumpled post-it note, upon which "Alpha-1 Antitrypsin" was written. Tears pooled, and I was transported back to the day when Grace's pediatric gastroenterologist first uttered those words and wrote the diagnosis down for me.
But wait; let me back up a bit…
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 my husband 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 my husband. 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? Can you write that down for me? I don’t know how to spell that.”
One silly little piece of paper brought it all back. One bit of paper, which I clutched inside my sweaty palm desperately hoping that the doctor was wrong. One paper, which to most people, would mean nothing. One look and I was back there all over again.
Now, it is a little over seven years later.
And guess what?
Grace still has Alpha-1. Grace is growing up with Alpha-1, and lives her life knowing she has Alpha-1. I help her to understand what that means to her. Grace even helps her younger sister, Meghan, to understand Alpha-1. I’m glad they have each other.
On the day I first heard the words Alpha-1 Antitrypsin Deficiency, I had no idea of the type of journey I’d begin. I remember that it felt as if fireworks were going off inside my brain. I really couldn’t hear much except for the huge boom of Alpha-1 Antitrypsin Deficiency that day.
Now, I can sit back and appreciate the beauty and amazing Technicolor that Alpha-1 brings to our lives. I can park myself in a lawn chair, and see them streak through the yard. I can close my eyes and hear them shriek with joy. Their cacophony hits me like the boom of fire works. I love every moment.
So on this 4th of July here in the United States, I’ve shared a "fireworks" kind of moment from my life.
How about you? Share an example of a fireworks moment from your life. I’d love to hear about them.
Happy 4th of July!