My side of things

by Julia Douglas

I was born with Alpha 1 Antitrypsin Deficiency. All it means is my liver doesn’t function as good as someone else’s. That’s not where my story starts though. It’s not when I was born . . . or my first birthday, where I had carrot cake instead of chocolate. No, my story starts when I was 5 years old, when I began to see my outlook and my destiny.

My mom and I were driving to the hospital for my check-up, and at that age I was in my “why?” stage. I asked my mom where we were going, and she responded with a simple “the hospital”. “Why?”, I asked. She got a little teary-eyed but managed to explain about my disease and what it meant for me. The first thing I asked her after she was done was “Am I going to die?”. “No”, she replied, “if you take care of yourself, no”. After that we left it alone but I never forgot that name and what it meant for me.

As I got older, I felt as if there was a gap between me and the other kids. They were normal, I wasn’t. I felt they could do more stuff than me. From sports to school, I thought they were better. I made it my goal to be better or as good as them, and in that one goal I realized I was different, sure, but I could be just like them.

I’m 14 years old now and I have made a name for myself, especially in cross-country. I danced for 8 years. I played soccer for 9 years, and am now on a travel soccer team. I did swim team for a year, and now run track in addition to cross-country. For academics, I am in advanced math and have been invited to apply to OSM Tech, an advanced high school program for math and science. Plus I have tons of friends who love me—for me—Alpha 1 and all.

One of my teachers told me you become a grown up when you realize one day that you are going to die. If that’s true, I guess I’m wise beyond my years. Right now though, I don’t care, I just want to have fun. You’re only a kid once! Diseases are just a bump in the road. Sure you have to watch them, but they don’t need to run your life and with medical research, it might get better. I think of the Rascal Flats song, “Life is a Highway” . . . he sings, “Life is a highway . . . I wanna drive it all night long . . .”. That’s what I plan to do, live my life to the fullest and not stop ‘til life runs out..

 

A mom's story

By Sandi Douglas
In many ways, our story is unremarkable. On a snowy December day fourteen years ago, our daughter Julia was born.

It was a beautiful, but rocky, start. After a long night and then a very intense morning, our 5 pound, 13 ounce baby girl was born. She looked perfect but had a very low APGAR score, and was rushed to NICU (newborn intensive care unit) for special attention. After two very anxious hours, the nurses brought her to us with assurances that she would be “just fine”. All seemed fine; she was our beautiful angel. I was discharged early in the morning two days later but the doctors decided Julia needed additional tests and observation due to unexpected bilirubin test results. Because she was slightly jaundice it was necessary for Julia to spend several days in the NICU to undergo many tests. We brought her home when she was a week old, still not knowing what was “wrong”.

When she was a month old, her pediatrician called on a Saturday with the “state lab” test results. She was diagnosed with Alpha 1, a ZZ genotype. We were told she had a 75% chance of needing a liver transplant, and only a 25% of finding a donor if she needed a liver. We were told not to have any more children since it was a genetic disorder and there was a strong possibility that future children would also have the disorder. Keep in mind that this was 1992. Diagnosis of Alpha 1 was relatively “new”; children were rarely diagnosed and most children diagnosed were serious cases. Of course, we were terrified and looked for all the information we could get our hands on, which wasn’t much.

Luckily, we were referred to an excellent pediatric gastroenterologist at William Beaumont Hospital in Royal Oak, Michigan. He was in the unique position of having two newborn patients with Alpha 1, and spent considerable effort to research the condition and help us understand the disease and prognosis. He also referred us to a wonderful genetic specialist (we’re both MZ), who helped us understand the “risks” of growing our family. We became aware of the Alpha 1 Association and the Michigan Chapter, and built contacts with families of children affected by Alpha 1.

The next 18 months were a roller coaster. Julia had blood-work done at least every two weeks and the results  fluctuated wildly. For weeks the results would be stable, the next month we would be discussing the need for a liver biopsy and possible transplant, and then she would stabilize again! However, we were very fortunate. By June of 1993, her blood-work became “predictable”—although never “normal”— and we were able to begin bi-yearly checkups by the time she was 4 years old.

In the 10 years since, the most challenging aspects of Alpha 1 have been emotional, rather than physical. We have encouraged Julia to see herself as a “normal” person and not to expect, or accept, being treated as “different” – whatever the future
holds. We have also stressed the importance of keeping her body and mind strong – healthy eating habits, lots of exercise, and
clearly understanding the very serious risks associated with smoking and alcohol.

Julia is doing great! She is a talented athlete—soccer, track, and a cross-country runner; a gifted student who loves math and science and plans to pursue a biomedical engineering career; and a considerate, caring person. And by the way, she is a great sister to her 11 year old brother,
Jacob (MM)!