Although Anne has Alpha-1 Antitrypsin disorder, she still hikes as high as 14,000 feet.

Alpha-1 Antitrypsin Deficiency

I’m an Alpha. My genes are SZ, complex heterozygote Alpha-1. My FVC (forced vital capacity, or how much air I get out when I take a deep breath and blow it out) is 99% of predicted. How much of that breath came out in the first second, my FEV-1, is 76% of predicted. Predicted normal is anything 80-120% of what I am expected to do compared to someone my age, height and sex. I do not improve very much with the inhaler. That means I have some obstruction to the flow of air that makes it difficult to get all the old air out.

Not getting the old air out means there is not as much room in the lungs to take in new, oxygenated air.

 An Alpha affected person “stacks” air in their lungs. They cannot efficiently expel all the air they took in, so with each subsequent breath, new air “stacks” on top of old, until there is no more room, hence, the feeling of not being able to “get a breath”.

What Is Alpha-1 Antitrypsin?

Alpha-1 antitrypsin deficiency (AAT) is inherited or genetic emphysema. It is different from the emphysema disorder caused by smoking;

alphas lower lungs are attacked first while for smokers, it’s the upper lungs. 

 The symptoms are very similar for both groups, however.  Affected people experience shortness of breath, especially during exercise.

 

 

What is the Problem?

In all healthy people, neutrophil elastase is produced in the liver. This enzyme removes damaged lung cells to keep the lungs healthy.

But too much neutrophil elastase begins to attack and destroy healthy lung tissue.

  AAT is a kind of protein that is also produced by the liver in healthy individuals. It controls the amount of neutrophil elastase produced. In Alphas, there is not enough AAT protein produced to control the level of neutrophil elastase produced. This imbalance allows healthy lung tissue to be destroyed.

The relative amounts of neutrophil elastase and AAT produced are determined by genes inherited from both parents.

Each parent carries two AAT genes of their own, but each parent passes only one of them onto their children.

 There are many different combinations possible that the children can inherit. These various combinations determine if the child will be a carrier, have mild, or severe symptoms.

 Types of Genes

There are four basic types of AAT genes: M, S, Z, and Null.

M genes are normal, healthy AAT genes. If a child receives one M gene from each parent, they do not have Alpha-1 deficiency.

S Genes are abnormal genes. Children who receive one S gene may not have any symptoms, or may only be mild or moderately affected, depending on the gene they receive from the other parent.

Z genes are destructive genes that lead to more lung damage. Children who receive a Z gene from each parent develop the most severe symptoms.

How is Alpha-1 Antitrypsin Deficiency Discovered by Doctors?

Doctors do not automatically test for Alpha-1 Antitrypsin.  They look for red flags, such as a parent or sibling diagnosed with lung disorders, a chronic cough, or complaints of asthmatic-like symptoms.

There are tests that doctors can do to check accurately for Alpha-1 Antitrypsin: two different blood tests will show how much Alpha-1 is in the person’s blood, and the quality of that Alpha-1. They also can make an accurate diagnosis by DNA testing. A pulmonary Function Test (PFT) measures how well the lungs take in and exhale air, as well as measure the amount of oxygen that moves through the blood. A Forced Expiratory Volume test (FEV) measures the amount of air a person can exhale forcefully in about 3 seconds. A CAT scan, which is a powerful x-ray-like machine, shows doctors the detailed condition of lung tissue.

 

My Alpha Story

I was diagnosed with Alpha-1 Antitrypsin Deficiency in 2001, but did not start augmentation therapy until 2005. I had lost a lot more lung tissue during that period, trying to figure out what to do.

I look back on my high school years and remember running up and down the soccer field, eager to chase the ball, cover every part of the field, and be the best athlete on the field. It never occurred to me that the mild breathlessness I experienced might be more than conditioning. I followed those physically active years with a more sedate lifestyle, typical of the college student deeply involved with study instead of exercise.

It wasn’t until I married Mike, in 1970, that my lifestyle catapulted into adventuring on a large scale. I took up alpine skiing, backpacking, bicycling, canoeing and whitewater kayaking. I prided myself on always giving 100 percent effort.

It was then, I noticed, that I was often striving to catch up to my friends, no matter the activity.

 So, I lifted weights, I worked out aerobically, I climbed stairs, in an all out effort to improve my conditioning. But, no matter how hard I pushed, I still played catch up.

So, I just kept working harder, adventuring more, but not necessarily going any faster, Mike and I rode our bicycles from Costa Rica to Peru in 1984. It was 6 months of grueling riding, and we loved every minute. It didn’t matter how fast we went. It was so tough, we took reward from being able to do it at all.   Then, we bicycled around Jamaica, and cycled from Alaska to Idaho. We have cycled both North and South Island New Zealand for six months, and Australia for another 6 months. Our biggest and most challenging adventure was cycling from Bali, Indonesia to Hong Kong, China. We were hooked on this type of travel. For us, a bicycle became a more acceptable form of transportation than a car.

For many winters, we skied into glaciers in the mountainous back country of British Columbia, Canada, and in Austria. It was never easy, but always thrilling, and that was the reason we did it.

Breathing difficulties really began to show up when we worked in Vail, Colorado as ski instructors in 1986.

I had to compete with the other instructors who were extremely fit.

But, considering I was working everyday between 9,000 and 11,000 feet, I did not think I had any special problem. Most of the time, of course, even though I was at high elevations, I always went downhill. In the summers, we worked for Outward Bound, mostly in Minnesota as wilderness canoe instructors. I had no problems there, but when we went to Montana to lead backpacking courses, I had a real fright; I couldn’t keep up with the students!

In 1990, we decided to quit instructing. We weren’t making enough money to have anything left over, so we started a construction company and built houses.

I had trained as a carpenter, so I was on the job every day, inhaling sawdust, drywall dust, and paint fumes. You name it, I inhaled it.

 But I wasn’t noticing significant breathing problems because I was only at 2,000 feet, and I was not hiking or riding as much. We went to Mexico for the winters. That was at sea level. We played a lot of tennis which only affected me a little. This routine continued for eight years.

It all came to a head in Mexico in 2002. A coal fired laundry about half a mile from our apartment dropped very fine, black-as-ink coal dust on our balcony every day.

By mid-winter, I had started coughing and could not stop.

I tried coughing medicines, but they had no effect. When we got back to the states in the spring, I was still coughing chronically. Mike wanted me to go to a doctor.  My family physician did the series of Pulmonary Function Tests on me. I guess I did not pass! He sent me to a pulmonary specialist.

When I told the specialist that my brother had recently died of Cystic Fibrosis, also a genetic lung disorder, he immediately did the blood tests for Alpha-1.

“You have Alpha-1 Antitrypsin Deficiency,” he said with very little bedside manner.  “Your lungs are destroying their own healthy tissue. This is a lifelong condition that is progressive. At present, there is no treatment for it. The medications have been taken off the market. I suggest you come back in a year and see if there is a solution at that time.”

Imagine! I, a healthy, active woman of 58 years of age, am told I have a destructive disease for which there is no remedy.

“I believe,” he continued, “treatment will be available again. In the past, it was given intravenously once a week. You would have to go to a hospital or special clinic to have it administered, probably here in Spokane. I doubt there would be a clinic where you live.”

He took my stunned silence as complete denial.

“Look”, he said. “This is now your reality. It’s best to just accept it.”

My life as I knew it was over. Our plans for retirement and travel came to a screeching halt.

I could not imagine living in a city near a hospital, tied once a week to a needle.

As I drove myself  home, I debated going on the final fling and letting the disease take its course.

I couldn’t explain to Mike what I had. I left the specialist’s office with no clear understanding. I couldn’t even pronounce the disease. The doctor told me to go look it up on the internet and learn what I could about it, but I was too scared. That’s when real denial took over. If there would be no treatment for a year, I may as well forget about it, at least for that year. I took my life back, our future plans for travel and adventure and swapped them for my health.

Well, I did not go back to the doctor until the fall of 2004. When I did, I guess I was hoping for an acquittal. We had finished building the subdivision we started 5 years before. We were starting our retirement with a 6 month bicycle journey through Australia. We already had the tickets. The bikes were packed.

I didn’t get my acquittal. He redid the blood tests, reaffirmed I had Alpha-1 Antitrypsin, and that treatments were once again available. I froze at the thought of being tied to a hospital in Spokane. I gave up my health one more time; we flew to Australia.

Even though I had denied my fate again, I was really worried. At least this time, I had the sense, and the courage to research more options. I was very lucky in that my brother-in-law was in the medical field all his adult life. I wrote him to ask if he could help me understand what I had, and what I was dealing with. His reply was uplifting. 

He helped me understand what the disease was doing, and most importantly, that I had some choices in treating it.

What to Do?

My brother-in-law gave me the names of three expert Alpha-1 Antitryspin physicians. I chose, while in Australia, to communicate with the doctor in Denver. It was the center of the west, and a place where I might likely travel near to in the years to come. His nurse is a patient support specialist for the Alpha-1 Foundation. She patiently, and with a great deal of compassionate understanding, guided me through the technical and practical issues I would need to deal with.

When she said they would teach me how to treat myself at home, that I would not have to go to a clinic once a week, I felt I had gained back control of my life. 

I had never experienced the workings of a support organization. Of course, I had heard of them, especially in relation to cancer issues, but their message did not mean much to me until I needed them myself. Once I made contact with the Alpha-1 Foundation, I had an army of helpers to answer my endless questions about treatment, insurance issues, and receiving my medical supplies as we were retired and living full time in an RV traveling around the country.

It was scary at first when I tried to self-administer my first intravenous treatment. A local nurse came to our campground with this great big box of supplies that I could not imagine necessary.

We went through the procedure of mixing the powder and water, drawing the syringes, and finally locating a good vein and inserting the needle.

As each week went by, she returned to make certain I was comfortable with the procedure.

Alpha-1 Antitrypsin Support

For more information about Alpha-1 contact the following organizations:

Alpha-1 Foundation:  www.alpha-1foundation.org 1-877-228-7311

Alpha-1 Association’s web site at www.alpha1.org 1-800-521-3025

Life Goes On!

Mike and I continue to live in our RV and travel as we wish. My medical supplies come by UPS or Fed Ex to a different address every month.

Best of all, we continue to live our adventurous lifestyle. From 2005 to 2009, we spent summers hiking in Utah, Arizona, and Colorado. During the summer of 2009, we hiked about 600 miles of known and unknown trails around Crested Butte, Colorado. All the trails began above 8,000 feet. I was able to summit a 13,000 foot peak. The photo at the top of this post is the 12,000 foot summit of Dorothy Peak. I hike slow, but I get there!

We found the area so spectacular, that we wrote the hiking guide called Crested Butte Colorado: 60 Scenic Day Hikes, which sold out the first summer. We now have four hiking guides and two bicycle adventure travel books with more on the way. Click on Amazon.com  It will take you directly to our books and their reviews.

We hope that the photos and stories of our various adventures on this site will generate an enthusiasm for pursuing one’s chosen lifestyle to the fullest. No matter our personal challenges, the best rewards in life come from giving our best effort in all that we do.

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