This story, my story, was written in 1999 almost on the heels of my being diagnosed with Alpha-1 Antitrypsin Deficiency. I was initially hospitalized in June, diagnosed in July and started augmentation IV therapy in August.

I've lived a life I never dreamed I'd be living when I wrote this in 1999. It has been neither all good nor all bad...but it has been LIFE! I love and appreciate (or try to) every minute of it. I frankly never expected to still be here in the shape that I am - such that it is. If you are reading this on my website then you are probably aware that there is more that I have no published and posted on what was just a website at first but has now become my 'blog'. To paraphrase an old country song, apparently I was blogging before blogging cool. - JPM 5/20/2007

The phone rang with it's anonymous electronic twitter and I picked up the receiver. It was Brenda, my Pulmonologist's nurse.

"We have the results of that blood test you took last week John..."

"Blood test?" I tried to remember,"Oh yea.. I remember, we drew that last Thursday after the Pulmonary Function Test (PFT)".

It had been a very busy time that previous week. I'd only been out of the hospital for a short time and Dr. Lutz had wanted me to have a pulmonary function test (PFT) once I started feeling better. Its a test that, among other things, measures how my lungs are able to move air in and out and get oxygen into my blood stream. The cough that had put me in the hospital and on IV medications was still very much with me. I'd been given 60 Tylenol with codeine to use to help control the cough when I went home from the hospital. After going through all of them in a week, he decided that he wanted to have look around my lungs and he scheduled me for a Bronchoscopy. He also decided that perhaps I should just get the PFT done to get an idea of what kind of shape my lungs were in even if they weren't entirely healed.

The day I had my bronchoscopy was the day I quit smoking. I figured that if my smoking had gotten me to the point where a doctor was going to pump me full of drugs, shove a tube up my nose, down my throat and into my lungs and go looking around, it probably wasn't a good idea for me to keep on doing it. 20+ years of a pack.. pack and a half a day habit/addiction. I knew when I started that I risked cancer, emphysema, etc., etc. The warnings had been there all along on the side of each pack I'd smoked. I'd tried to reduce the risk by choosing a low tar and nicotine cigarette. It's almost funny when I think about how many cigarettes that must be. But it was never that many. Not really. It was just one more cigarette followed by just one more...and one more. Besides, when I started smoking, I really had no understanding of ever being 30 or 40 years old. I certainly had no understanding of the risks... the real risks I faced due to my enzyme deficiency...due to being A1AD. Even though I no longer smoke, I still want a cigarette - just one more.

The Pulmonary Function Test (PFT) involved sitting in front of a high tech looking machine made up of tubes, tanks of oxygen and other gasses, a small computer and keyboard and performing various breathing tasks as directed by a nurse. At one point I saw where I obtained a score that was in excess of 100% and I really felt proud of myself. (I found out later that on that particular test, having a volume in excess of 100% was not a good thing and was just another symptom of my disease.)

After the PFT was over, my pulmonologist reviewed the single paged report and graphs that the machine had produced and told me that I had Chronic Obstructive Pulmonary Disease... Emphysema. As we went over the information on that page, he said that he was surprised that my numbers were as bad as they were. He asked me if there was a history of lung disease in my family. I told him how my father had died of emphysema on Easter Sunday morning of this year. He crooked his eyebrow and ordered a blood test that he said would check for a rare inherited enzyme deficiency that could explain these lower than expected numbers. He told me his nurses would get me some information on COPD if I wanted it (I did) and that if the blood test showed anything, they would call me; otherwise, I should just plan on seeing him in a few weeks.

"So I can presume that since you are calling me Brenda, the test shows that I am missing this enzyme thing."

"Yes", she responded, "We'll be sending you some information on it."

"Ok", I thought, "Thanks ... I think."

I put the phone back in it's cradle and turned my back to my office door. Looking at my PC, I closed the few windows that were open and just sat trying to absorb what I'd just been told. After the separation from my now ex-wife a little over a year earlier, I'd promised myself I'd take better care of myself and had started to see a Family Practice doctor who was new to the community and starting his practice up. I figured that he would be full of fresh out of school information went to see him for the first time because of a bad round of Bronchitis I was fighting. He treated the bronchitus and also diagnosed me with asthma and worked really hard trying to help me get that under control. When I just wasn't responding to his ministrations, he referred me to Dr. Lutz, my pulmonolgist. Dr. Lutz also tried to get my asthma under control, but he was not having any more success than my regular doctor and then I had that passing out thing happen at work.. and the ride to the hospital... and the week long stay... and the cough from hell.. and the burst blood vessels in the whites of my eyes (from the coughing) so that it looked like I'd been on the business side of a serious beating. So here I was, at age 42, wondering just what the hell I'd just been told.

Alpha1-Antitrypsin Deficiency... A1AD. I dove into the Internet and began researching everything I could find on the subject. Search engines, meta search engines, medical search engines, even search engines searching for medical search engines. What I discovered was that, among other things, it is a hereditary disease that accounts for about 3 to 4% of all COPD cases. This enzyme, that I am lacking, is used to counterbalance a cleansing substance found in my white blood cells.There is a cycle of events occurring in my lungs and this emphysema resulted from my body literally having too much of a good thing. When you inhale irritants like dust or smoke or chemicals into your lungs or have a bacterial lung infection, the body responds to these events by sending white blood cells to go into the lungs and chemically dissolving the irritants and any damaged lung tissue. When the body detects that it no longer needs to continue on with this housekeeping. the liver is called on to produce the Alpha1-Antitrypsin (AAT) enzyme. This is then picked up by the blood stream and sent into the lining of the lungs where it neutralizes the chemicals produced by the white blood cells. For people who are A1AD, their bodies simply do not produce enough workng versions of this enzyme that are used to turn off and balance the cleansing effect of the white blood cells. This leaves the lungs exposed to the actions of the white blood cell's cleansing enzyme which, left unchecked, now damages and destroys healthy lung tissue. Over time, the damage accumulates until the deficient individual notices shortness of breath usually during his 30's and 40's. Smoking can and does speed this process up.

One of the things that can be missed in all of this is the relationship between smoking and emphysema and how smoking interacts with alpha1-antitrypsin. As I look back at that last sentence, I'm reminded of all of the anti-smoking campaigns I've ever seen and always ignored. Perhaps I should have said that the other way around because to me, at least, it is an important point. .

Alpha1-antitrypsin reacts with cigarette smoke and is effectively neutralized or weakened by it. This means that a person who has a normal supply of AAT may (will) experience lung damage over time because the smoke has canceled out the benefit of the AAT that was produced to counteract the white blood cell enzymes. Emphysema is the result of lung damage that results because AAT is not making its way effectively to the parts of the lungs needing it's beneficial effects. In a sense, anyone who has been diagnosed with emphysema has been affected by a deficiency of AAT, regardless of their smoking history. For those of us who have been diagnosed A1AD, the damage is more severe and shows up much sooner than it otherwise would.

Our lungs are designed to exchange gases between the red blood cells in our blood stream and the air that we breath. This 'out with the bad air in with the good' gas exchange occurs in microscopic little air sacks called alveoli. When we breath in, these sacks are inflated with oxygen that then slips through the lining of the sacks into the blood's red blood cells which dump off the carbon dioxide gas that is produced by our body as we use up the oxygen. When we breath out these sacks are deflated much like a balloon and the carbon dioxide is pushed out of the lungs and into the air. We have millions of these little air sacks in our lungs. An imbalance of AAT in the lungs due to smoking or AAT deficiency exposes these sacks to cleansing enzymes of the white blood cells which, when left unchecked, damage and destroy the air sacks and the structures that keep support their expansion and contraction. What you end up with are air sacks that are no longer elastic and they are no longer able to pull in the fresh air and expel the old. They much like an crumpled empty plastic grocery bag that has no elasticity and may even be torn in places. With the sacks in that condition, the body is unable to use them and must rely on the sacks that are left to do the job.

Over the centuries, the human body has evolved (and been blessed with) millions more of these air sacks than we should ever need in our lifetime. Our genes have planned ahead so to speak for our bouts with pneumonia and bronchitis and common colds that we would experience.  The lungs loose many these air sacks as a part of the day to day activity of just keeping us going. This usually isn't a big deal since we have so many more than we actually need. Dr. Lutz told me that most folks don't even notice any problem with their breathing until the overall function is at 50% of normal or less. The problem with being AAT deficient is that this expected rate of damage to the air sacks occurs much faster since the usually healthy cleansing actions of the white blood cells on the lungs is allowed to continue unchecked.

So what could I do? What do I do now? The damage that has been done to my lungs is permanent and can't be undone by anything short of a lung transplant. What I discovered I could do however was:
            1. Quit Smoking.
            2. Learn how to avoid lung infections
            3. Optimize what lung function I still had and
            4. Replace the AAT enzyme so that this accelerated rate of lung damage will at
                least return to normal (whatever that was).

The first 3 were things that I could and did begin immediately. The fourth item however, proved to be a little more difficult to achieve than I expected.

The Bayer Corporation (yes, the same that make the aspirin) manufactures a medication called Prolastin - human Alpha1-Antitrypsin. Perhaps a better way of saying that is that they distill it from human blood. They are the only ones on the face of the planet who do this. (At this writing there are a couple of other companies that are working toward getting human AAT to the market but as yet they haven't made it there yet.).

It is a rather complicated process the making of Prolastin, but what I also discovered was that there wasn't enough of it to go around. In 1998, all existing Prolastin users were told that there wasn't enough to go around and that they would only be able to get a percentage of their prescribed dosage. As a result, in the Summer of 1999, I found myself in the position of needing a drug that others could only get a percentage of and that I might not be able to get at all. One of the things that was different about Prolastin was that since it was a blood product, it was delivered to the patient by intravenous (IV) infusions. To make it even more unusual, you couldn't just go to the local pharmacy and fill a prescription. Instead, if you needed Prolastin infusions, you dealt with an infusion therapy company or clinic and you would have your infusion treatments either at your home or at a doctors office, clinic or hospital setting. There were some patients I found that managed to handle the infusions all on their own while others needed transported to and from the hospital for treatments. To confuse the issues even further, in most cases patients could only get the medicine from these infusion therapy companies. I found out that there were just a couple large infusion therapy companies. I contacted them and they were very nice but very to the point that there simply wasn't any medicine to be found at this time.

I then got onto the Internet and began to use the various search engines to find any and all companies that had Prolastin listed anywhere on their webpages. One of the hits on one of my searches was that of an infusion therapy company in South Dakota. They listed a toll free number do i called it. I told them who I was and why I was calling and asked if they had any spare Prolastin. Not surprisingly the answer was no, so I left my name and phone number and kept on searching. I live in Indiana and they were in South Dakota so I really hadn't expected anything to come from the call but I figured it was worth a shot.

A few weeks later, the phone rang at the office and it was this small company from South Dakota. It appeared that they had been able to find a way to get me my supply and that I could get it at 100%. I was thrilled to say the least. I asked if I'd have to go on some kind of percentage but they indicated that they could supply me at 100%. Not being a fool nor one to look a gift horse in the mouth, I quickly arranged for them to begin sending my medicine to me.

I have to say at this point that my insurance company had been absolutely wonderful up to that point and they continue to be. I called them telling them my good news and they seemed to find it a little hard to believe. My doctor said he too was a little skeptical. We had no idea if these folks in North Dakota were on the level or not. So we all proceeded with caution. There is good reason for this caution too. The amount of Prolastin you get per infusion is based on your weight. Based on my weight and from what I'd read, we were looking at a weekly cost of about $1,000 a week, every week, for the rest of my life. So there was good reason to be careful dealing with a company that none of us at this side of the IV tubing had ever heard of or dealt with. Fortunately, they were able to come through on their promise and it wasn't long before I got my first shipment of this "Liquid Gold". (Prolastin is a light amber colored liquid when it is being infused. That may - or may not be the reason they call it that.)

Since I was Dr. Lutz's first diagnosed Alpha1 patient, he wanted me to have my infusions at the local hospital - which I did. That first day was wonderful and a great learning experience for all of us.. the pharmacy, the nurses and especially the patient - me. Fortunately everything went flawlessly and was completely uneventful. I even fell asleep during the infusion. For the first time in the 40 plus years I'd been alive, this was the first time I had had sufficient amounts of this enzyme in my blood stream. This was the first time that my body wasn't poised to attack my lungs; to self destruct. For the first time in my life, I was 'normal'.

I'd managed to get my Prolastin. This drug, the only thing, that was going to stem the rapid destruction of my lungs. I was 'well'. Well... no I wasn't. I was just beginning to heal. Even though I was out of the hospital and beginning my Prolastin therapy, I was still very much on the south side of sick. With all the coughing I was doing, I'd burst blood vessels in the whites of my eyes and that blood was seeping bruiselike down to my upper and lower lids. I looked like I'd been in a terrible fight and lost. I began to notice that with each cough, the left side of my chest hurt. The more I coughed, the more it hurt. I was developing pleurisy - an inflamation of the sack that surrounds the lung. With each cough, it felt as though broken bones were rubbing against raw nerves and I would double over in pain. Fortunately I was able to get some pain medicine that was able to dull the pain enough so that I could rest. For a time I simply could not use my left arm because of the strain it put on my muscles over the lung. Nobody had told me that this disease was going to hurt.

Truth be told, it doesn't ... it's just that some of the things that happen as a result of having it can cause pain.

It's been a little over a year now since I was diagnosed and started down this road. One down and only 40 more to go I'd like to think. I know it will probably be much shorter than that but hey, it never hurts to set goals...you can't achieve goals unless you set them. In the past year I've received Prolastin infusions - one a week. The distribution of Prolastin has been taken over by it's manufacturer, Bayer, and is now available in an equitable fashion. The middle men have been cut out of the loop and the supply was suddenly there. It would appear that a few of the infusion therapy companies were hording supplies of the medicine while others went without. Bayer's action was a very good thing. Unfortunately it was the actions of a few that were hurting the Alpha-1 community as a whole. You wouldn't think that anyone could withhold life saving medication from some patients in order to make a buck on the others. But then again...

I've been through a round of pulmonary rehabilitation which was one of the smartest things I've ever done. It is even possible to play volleyball so long as you don't have to run too far or move too fast.

I survived another exacerbation that landed me in the hospital for a week. Learned once again to not make life changing decisions while under the influence of Prednisone. Remind me to tell you the story of visiting the post office while on 60 mg. of that stuff and just being amazed at how nice the place was. It really is a funny story.

Oh... and remind me to tell you how an internist tested my Alpha-1 level in 1994 and didn't bother to tell me I was deficient and at risk of developing severe and life threatening COPD and/or liver disease. That story isn't funny. Not funny at all. If any lawyers are reading this and want to tilt at windmills with me, please email me at a1ad@att.net.

Take care and breath easy my friends.

A few notes since my initial diagnosis in 1999...
My genes don't fit.