Story about Alpha 1-antitrypsin deficiency .

Better Late Than Never

May 11, 2016


I was told I have alpha-1 antitrypsin deficiency in 1999 whereupon I immediately quit smoking and started IV augmentation therapy.  Further review of my medical records showed that I'd been diagnosed in 1994, 5 years earlier. Neither the doctor who ran the test and who wrote a two and a half page report suggesting I see a specialist ASAP nor the primary care doctor who had long ago decided that my elevated liver enzymes were due to me being a chronic alcoholic and who received a copy of that report bothered to tell me - the patient. In the 5 years that passed between 1994 and 1999 - I lost half of what lung function I had left - dropping from 50% of normal to 25% of normal. 

That has been 17 years now since I was told I'd be dead in two years from the 'fatal' condition. 

If I hadn't found the right doctor just in the nick of time, I'd be dead. 

I guess passing out during a coughing fit at the office can sometimes be a good thing. 

I also know I'm one of the lucky ones. Most live with and die from A1AD without having a clue what is killing them. Fortunately, that seems to be changing. 

Thank God. 

 

 

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