The beginning is a very good place to start

I was diagnosed with Alpha-1 Antitrypsin Deficiency (AAD) when I was two years old, yet my diagnosis has only recently become a conscious part of my life. At the time I was diagnosed, not much was known about AAD or its manifestation in my body. My parents were told to keep an eye on me, though ultimately it was unclear what they should be looking for.

I grew up without complication or serious illness. Two decades later, I continue to be a fairly healthy person, barring polycystic ovarian syndrom and some extra weight. In my teen years, I developed a mild case of asthma. It continued into my adulthood, but isn't interfering except during exercise and when getting a serious tickle. I cough a bit. I wheeze. I struggle to breathe for a few minutes afterwards. Within the hour, I am back to my normal-breathing self. Just a touch of asthma, no biggie.

While seeing my primary care physician for gallbladder troubles this last month, I requested to be retested for AAD. I knew it was a genetic, and therefore, persisting condition, but I questioned if the doctors got it right twenty-three years ago. Certainly more is known now than was known then; maybe there was a change in diagnosis methodology. Apparently not too much changed, because last week we got the call that I was indeed positive for AAD.

As I recovered from gallbladder surgery, I set to work getting acquainted with this condition, and was quickly astonished with what I found: My 'touch of asthma' may be only the tip of the iceberg. I read story after story of people whose lives were interrupted with weekly augmentation therapy or constant oxygen therapy. Stories of people who went through transplant surgeries, transplant rejections, and then more transplant surgeries. Stories of people, and family members of people, whose lives were devastated- cut decades short- because of AAD. The lingering, unresolved question is "Will this be my story?"

We are waiting to find out. October 30 I take a pulmonary response test, and then a week later, I meet with my pulmonologist to discuss my results and what the next step is for me. We know my phenotype, piSZ, and we know that is the more mild form. What we need to find out is where my case lies on the spectrum of piSZs; will I be virtually complication free, or will I have the misfortune of developing lung or liver disease?

God willing, this blog will chronicle an uneventful and non-interfering experience with AAD.