Hi Colleen.

He was diagnosed around age 30 with COPD. (He's 40 now)
Then Emphysema was mentioned shortly after.
He did the best he could for about 9 years with that diagnosis and the inhalers and nebulizer treatments, he wasn't smoking, still doesn't. He definitely struggled more and more as the years went by with shortness of breath, and he seemed to get respiratory infections more, and seemingly very easily. I nudged him a bit to look for a new dr. It just seemed like something was "missing." The deterioration didn't make sense. He was relatively young. He quit smoking at 28. Yet he would be out of breath after walking up stairs to get to the bathroom at home. We have family members in their late 60s who still smoke, have emphysema and dont experience shortness of breath like he does. I know everyone is different, but something just seemed off..
It was only when he finally got a new pulmonologist did he immediately get tested for Alpha-1 Antitrypsin Deficiency, and that's what he has. He's type ZZ, and we learned that his liver produced almost NONE of the protein that it normally would to help protect his lungs.(He now does weekly Prolastin-C infusions.) For his entire life he's had no idea that he has this genetic deficiency, and therefore didn't know he had even more than the obvious reasons to make different lifestyle choices- like with smoking and other environmental/work place hazards.
Anyway, that's the same pulmonologist he has now. He is very proactive and calls to speak to my husband over the phone himself if my husband has questions. I know that probably seems small, but for us it's been huge. It makes things feel more personal.
We just got the call to scheduled his biopsy yesterday, so he'll have that done in about a week.
It's been hard going on about our days with knots in our stomachs. As much as I'm worried, it can't compare to what he's feeling.