11/08/2025
Understanding and living with Alpha-1 Antitrypsin Deficiency!
Alpha-1 is a rare genetic disease that can affect the lungs and/or liver and/or skin. If you have had unexplained illness, you can get tested it’s free and confidential you can go to alpha1.org. I was pretty much a healthy child until I was 16. I started getting sick and had absolutely no answers as to why! I had chronic bronchitis! I had symptoms but the tests that the doctors would run would come back fine. So even though I had symptoms and they saw most of the symptoms they got to where they would make me feel Like I was lying about what was going on! So when I was diagnosed I felt validated! Doctors made me feel like I was crazy! I didn’t know that I was being tested! I was seeing a doctor for the very first time. They run tons of tests on the first visit. So when I went for a follow up I got my results! They were going to swab my mouth but were out of swabs that day, so they pricked my finger and got 3 circles of a drop of blood each. I didn’t ask what that test was because I know they test for a ton of stuff and knew I would get the results when I went for my follow up appointment. So I didn’t ask. My phenotype is ZZ. My lung function is now 30% at 42 years old, my levels are 37 (before I started taking weekly infusions, which I will take weekly infusions the rest of my life to stop the progression of my lung disease (genetic COPD and genetic Emphysema)). I was diagnosed in 2021 I was 38 years old! Most people end up finding out around 40 years old after there has already been some damage to the lungs! After there has already been some damages to the lungs the infusions will stop the lungs from getting worse! Had my moms doctor tested her I would not have the damages to my lungs that I do have. Because I would have known and gotten tested a lot sooner. However that did not happen! My family members had issues with their lungs and liver. Some with the lungs and some with the liver. They passed at very early ages due to the lungs and/or liver!