Story about Alpha 1-antitrypsin deficiency .

Alpha-1 Diagnosis

Jan 3, 2020

By: Cory


Hard to really define when I first noticed the changes. Had always been active, played sports, etc. It was probably around 50 years of age when I started noting a shortness of breath. I had smoked for more years than I cared to admit so I blamed the shortness of breath on the cigarettes.

First doctor I consulted about the shortness of breath told me she could not help me if I continued to smoke and I was overweight. If memory serves me right, it was 2013 when I had a major episode of chest pains and shortness of breath. My employer at the time insisted I go to the emergency room. After being hooked up to the heart monitor and after several chest x-rays along with a stress test, we really learned nothing. They were concerned about my O2 levels, dropping below 90%, but no PFT or visit from a pulomnologist.

Saw several other doctors who prescribed various inhalers and gave the diagnosis of COPD.
Finally found a pulmonologist who would listen to what I had to say and was willing to look a little deeper. She did the blood test for Alpha-1 and it came back positive. Second test to verify confirmed the first.

I have been doing the augmentation therapy since that diagnosis. Weekly infusions. Only "improvement" noticed was elimination of the tight chest feeling when exerting myself. Tudorza seems to have resolved that. I still have the shortness of breath and am easily fatigued. Lung function is about 53% of expected values.

It is what it is. No cure, accept what it is and move on.

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