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!

Feedback

When I post here, I write to and for my loved ones... you, my readers. To do this, I try keep your needs, your interests, your questions, and your concerns in mind.

It is helpful to me to know what these needs, interests, questions, and concerns are.

Maybe something I wrote doesn't quite make sense, and you'd like clarification. Maybe an idea occurred to you, you have a website to share, or you have reason to believe some of the information I posted is false. Maybe you have a question about a specific post, or AAD in general. Maybe you just want to say "hi" or offer a few words of encouragement.

Whatever the case, you can give me feedback by clicking on "Thoughts" located at the bottom of every post. Then choose from the following:

• Name/URL. This allows you to leave a name without having an account. This is probably the easiest way for most of you to comment.
• Anonymous. Your comment will show up as written by "Anonymous", though I do request that you somehow identify yourself within your message, as a courtesy.
• If you have Google (Gmail), Livejournal, Wordpress, TypePad, AIM, or Open ID, you can leave a comment using that account.

You can read others' thoughts by clicking there as well, and respond to them if you feel so inclined. If you are a lurker, and you'd rather not comment, that is perfectly fine too. Just know I'd love to hear from you, my loved ones and my audience!

The purpose of this blog is to serve you: to help you gain information and awareness of AAD. I will continue to keep this going as long as just one person is benefitting from it ("Hi, Mom!").

Thanks, and happy learning!

Explaining the Genetic Connection

Each of us carries in our DNA genetic material that tells our body everything it needs to know about producing the enzyme Alpha-1 Antitrypsin (AA).

We each receive two copies of the AA gene. Each copy is from one of our parents. The copies are represented by letters:

MM

SS

ZZ

SZ

MS

Each letter represents instructions that tell our body how much AA to make:

M

"Make a normal amount"

S

"Make some, but not enough"

Z

"Make a very TINY amount"

Null or Zero

"Make none"

The combination of letters indicates whether or not our bodies produce AA normally.

NORMAL

MM

CARRIER

MS

MZ

AA DEFICIENT

SS

SZ

ZZ

Null

People who do not have AAD, but can give it to their children are called carriers. They have an "M" and some other letter. The one "M" makes their livers produce AA normally. Their kids might inherit the other letter, though; that is what makes these parents carriers.

Consider the following illustration:

People who DO have AAD do not have an "M". The severity of their condition is represented by the letters in their pi type.

For instance:

People with an SS are less likely to experience complications than someone with an SZ.

People with an SZ are less likely to experiences complications than someone with a ZZ.

People with an SS rarely experience complications.

People with ZZ have a very strong likelihood of experiencing complications.

People with SZ are somewhere in the middle.

Where they are in the middle depends on a number: their serum level

Alpha-1 Phenotypes & Serum Levels

Phenotype	Frequency (in population) (2)	mg/dl (Commonly Quoted Levels)	uM* (True Levels)	Emphysema Risk
Pi*MM	90%	150-350	20-48	No increase
Pi*MZ	4%	90-210	17-33	No increase
Pi*SS	1.5%	100-200	15-33	No increase
Pi*SZ	.2%	75-120	8-16	Mild risk
Pi*ZZ	.02%	20-45	2.5-7	High risk
Null-Null	very rare	0	0	High risk

I am an SZ. One copy of my gene "makes some, but not enough" AA. The other copy "makes a very TINY amount".

When I was tested at two years old, my serum level was 54mg/dl. According to the above chart, that puts me closer to a ZZ than SZ as far as risk level goes. But keep in mind, that is according to this chart. (BTW, I got it from this website. Evaluate for yourself how credible it is)

We do not know what my serum level is today, or if it changes during the course of a lifetime. We really know very little for certain, and I can't stress that enough. All we know for sure right now is that I have it; everything else is guesswork until I see the doctor.

Above are Dad's AA test results. It appears he is an MM (M1, really.... there are many forms of each type. Bottom line, his is the "normal" type). We do not have Mom's test results. We do know she does not have AAD.

This presents a conundrum. Given the information I have just explained, we are wondering WHERE I got the S and the Z if Dad is an MM. The only way it makes sense is if Mom is also an SZ.... but she isn't, because she doesn't have AAD.

... and I have not read anything about this skipping generations.

Maybe I was wrongly "typed"?

Maybe my parents were?

Maybe my understanding is too simplistic, or drastically incomplete?

In any case, our hope is that we can get an explanation from my doctor on how I ended up with it and what it might do to my body over the next few decades.

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.