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Alpha-1 Antitrypsin Deficiency - just been diagnosed

Lung Health | Last Active: Oct 11 1:10pm | Replies (53)

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@nancyjac

Thank you Colleen. I had not seen the two Mayo Clinic web sites. I will take a look.
I had seen a pulmonary doctor in Maryland numerous times and was hospitalized several times with pneumonia. I had asthma and was diagnosed with Emphysema when I was in my mid-30's. My mother was also diagnosed with Emphysema at an early age. Alpha-1 was never mentioned to me before by any doctors. Once we moved to Florida, I was having more trouble breathing so I went to a pulmonologist six weeks ago. After hearing my history of frequent pneumonia and early on set of Emphysema he thought I might have Alpha-1 and so he had me tested for it.

I have an appointment with him next week. They need to do some follow up tests. The nurse had difficulty getting enough blood from the finger pricks to completely fill the circles on the test strip. I got a call from his office telling me that I do have it, All I know at this point is that I tested positive for it and now they need to have further testing. I guess that is to determine the GENOTYPE AND LEVEL etc as Bill mentioned below. I know very little at this point and hope to learn more. Thank you everyone! Nancy Jacobs

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Replies to "Thank you Colleen. I had not seen the two Mayo Clinic web sites. I will take..."

Alpha 1 carrier here. Not all labs are experienced in testing for Alpha 1. I have 4 totally different lab readings, and a lot of confusion. I suggest you do testing directly with the Alpha 1 organization. They are based at thr University of Florida. Dr Mark Brantly is a super expert on the topic. They are retesting me again (#6) to get to the real genotype.