Genetic Aspect of my disease

The doctor (well, nurse) called us back 2 weeks earlier than our next appointment. I was pretty sure that the results were back regarding my alpha-1 antitrypsin deficiency test.

In the meantime, I had been reading a lot about emphysema and COPD. I was feeling quite familiar with that mess. I came across an awesome support group online and read and read and read. So, what I was learning was that emphysema is a disease that progresses, but you can slow it down if you stop smoking, eat right, exercise, stay away from other sources of smoke, etc. I was feeling pretty confident about all that. I love to work out, but my shortness of breath had been making that difficult. I decided I would do what I could and not try to do what I have been able to in the past. Eating right is not hard for me. I don't care what I eat as long as I don't get a headache. Quitting smoking was way hard. That was a challenge. 

So, I'm feeling better about it all, and in I go to the doctor. He brought me in his office and sat down right across from me, knees almost touching. He very gently explained that my test was positive. I have alpha-1 antitrypsin deficiency. It is genetic. I got 2 bad genes, one from my mom and one from my dad. So my genotype is ZZ. That's as bad as it gets.

The pulmonologist explained that there are things we can do to help slow down the progress. First let me tell you what is happening to my lungs.

I got an infection (sometime in the past) and the white blood cells went to my lungs to try to get rid of the infection. In trying to make me better the neutrophils (one type of white blood cell) started releasing elastase. This is an enzyme that breaks down the elastic fibers (mostly) in your lungs. "Normal" people then produce a protein in their liver called alpha-1 antitrypsin. This protein travels to the lungs and stops the elastase from breaking down the elastic. 

I have very little alpha-1 antitrypsin, because my genes don't tell my body to make it. Therefore, my elastic fibers are getting destroyed with very little to stop this.

At first when I was researching this disease I read that if you don't smoke and you don't work with asbestos and you're not around a lot of smoke (like from fires and stuff) this deficiency won't necessarily show up. But, as I have researched it more, it does show up. And it does destroy lungs. There are people in my group who have never smoked and it is destroying their lungs. I have read stories about 26 year olds who are dealing with this. It is scary and life-changing. 

I will write more about how to slow this down next time.

Here is a link if you're interested in learning more

http://www.alpha-1foundation.org/

Finding out about Alpha-1 antitrypsin deficiency

August 27th, 2012

Well, this is my first time with blogging. So, here we go.

I was getting really short of breath a lot. I didn't want to go to the doctor about it. I was quite sure they would tell me to quit smoking. I did so love to smoke. My shortness of breath kept getting worse. To the point that I had to stop halfway down the hall to catch my breath. Ugh. Finally Bob said we needed to know what was going on. He went with me (practically dragging me) to see my primary doctor. She did a few tests, added some more junk for me to take (Spiriva, on top of current medicines Advair and Albuterol) and set me up with a pulmonologist. So, a month later (June 26th) we go off to see the pulmonary specialist. I had very little clue about what to expect. I figured he would give me the pulmonary function tests, which he did. And I filled out a questionnaire regarding smoking and family history and other medical issues. I have to say that I really like this doctor's office. It's a one-doctor, one-nurse office. They are both personable people and put you at ease to start. Even in the waiting room the nurse, was joking with people and had us all laughing.

The pulmonologist looked me over - listened to my heart and lungs, felt my thyroid, checked my throat. Then I went into a room where the x-ray I had brought with me was hanging up. The letter that came with the x-ray said my lungs were hyperinflated, indicating some sort of issue. The pulomonologist said that my lungs did not look very hyperinflated to him. But his nurse would run some tests.

So the nurse came in and had me blow into a spirometer that was hooked up to a computer. The monitor had several candles on the screen and I was supposed to blow them out. Fun visual. And boy did I try to blow them out. Twice I tried. Then she had me inhale some Albuterol and try again. I was able to blow out a few more candles with the Albuterol. This indicated I have an asthma component to my shortness of breath.

Back in came the doctor. He showed me a chart of COPD life expectancies. When we followed the trajectory I was on it showed I have 5 years. He explained that he was quite surprised that I was so far along in the disease. He said I didn't smoke that much (about 8 cigs a day) and I started smoking at 32 years old, so hadn't smoked my whole life. He wanted to test me for Alpha-1 antitrypsin deficiency. This is an hereditary (never know whether that's an or a) component of emphysema. So the nurse came back in and poked me with a needle and put some blood from my finger on a card and sent it off. They would know in about 2 weeks. Prior to this I had never heard of alpha-1 antitrypsin deficiency. When I got home I began researching it. More about what it is in later posts.

We set up an appointment for a month later. He changed my Advair to Dulera and gave me a month's worth of samples. Without insurance (we don't have insurance) this visit cost $250, plus the $50 to my primary healthcare provider. The medicine is outrageous. Advair is around $250/month, as is Spiriva. Don't know what Albuterol costs.

We went home to await results and the next visit.