Appointments

The much awaited appointments came and went without too much wave-making.

Two Fridays ago, October 30, I had a PFT (Pulmonary Function Test). It was a simple test in which I was placed in a chamber and instructed to breathe into a mouthpiece in very specific ways. A computer charted multiple components of my breathing, and spit out a list of numbers and graphs that mean little to the layperson. The nurse who administered this test said everything looks good. When I saw the results myself, I recognized the graph patterns as similar to the healthy ones I saw in my research.

Last Friday, November 6, I met with Dr. Spencer to discuss my results. To start off our consultation, he asked me how much I knew about my form of AAD. He affirmably nodded as I spit out key points, but quickly corrected me when I said my form was SZ.

"You're a ZZ"

"No, I'm pretty sure I am an SZ"

"No, you're a ZZ"

"That's weird, I thought the dictation supplied by my pediatrician said I am an SZ" (I'm sure I didn't just pull it out of my behind. This was confirmed hours later when my husband pulled up the dictation and read aloud "...SZ...")

Not wanting to argue the point further, I receded and let him move on. We reviewed my PFT results, and he confirmed the numbers were A-OK. I have another PFT in May to pinpoint a "rate of decline", if any. He explained that my test results might be great now, but we don't know how fast my lung function will move downhill. The results from May's PFT will tell us what that rate is, and it will help us determine how often I need to come in for retesting. We are watching 4-5 components closely. If they get below a certain level, I will start weekly enzyme replacement therapy, which I think requires me to go to a clinic or hospital for an intravenous procedure. I need to read up on that.

I asked him what I can expect in the next several years. He explained that lung function in the general population begins to deteriorate at age 35. At that age, my lungs will probably deteriorate as if I were a chronic smoker (I have never smoked). In all likelihood, I'll have no issues for many years. The goal is to catch the problems before they become issues. He assured me that with the replacement therapy, I'll probably live a very full, happy life. That was extremely comforting.

He will be watching my liver in addition to my lungs. When I have a PFT, I'll also have a liver function test (LFT). It's a simple blood test that will indicate problems with my liver Unfortunately, replacement therapy won't help a problematic or failing liver, so we'd have to deal with that separately if/when it comes.

We talked briefly about my wheezing. He suspects it is not AAD related, but I now have an inhaler to help when I have episodes.

My feelings about the appointments?

• Relief.... We have a plan, and the prognosis looks good.
• Slightly Disturbed.... I went from thinking I had a good chance of no complications as an SZ to being told I'll likely need replacement therapy as a ZZ. Refer to this post for further exploration of what SZ and ZZ mean.
• Confused... Ok, am I an SZ or a ZZ? In May, I'll show the dictation to Dr. Spencer and request a 3rd test. What my phenotype is doesn't carry much weight at this point, but it is important to have the right information on my record in case it does matter in the future.

All in all, it was a positive start!