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/