Alpha-1 Antitrypsin Deficiency - just been diagnosed

@waterboy @windwalker I see my pulmonary doctor on Thursday. Does anyone have any suggestions about any specific questions I should be asking him at this point? Thanks!

@nancyjac I'd read over all of the info on the Alpha-1 website and formulate your questions from that. Good luck on Thursday at your appt.

@nancyjac Nancy, I would ask if the type of Alpha deficiency is affecting your lungs, or your liver, or both. You obviously already have lung issues, so, hopefully they can keep that in line. Ask if your levels are low enough to require infusions. I am hoping that they tell you that you are at a stage where minimal maintenance meds are all you need. Please keep us posted on what your dr says. That way we can better help with the info you may need.

@windwalker. I am so sorry about your mother. My mother had been a smoker and had emphysema. We were fortunate that she quit smoking and she didn't get worse. I have no idea if she had Alpha-1. I'm guessing now that she probably did. I'd never heard of it until six weeks ago. I'm surprised that my previous pulmonary doctor who diagnosed me with emphysema over thirty years ago never mentioned the possibility to me. Can carriers who don't smoke get serious lung diseases? This is all so new to me. Thank you for sharing your story with me.

I was told my Dr Patel in Rochester, I probably would have gotten COPD even if I didm't smoke... perhaps later and less agressive. Test test test

@windwalker I will definitely ask the connection question. To my knowledge I have never had liver issues.

In the last couple of years I've experienced more difficulty exercising - feeling worn out way too easily. Now I don't have the stamina to play tennis and I'm having more difficulty even attempting to play golf. I've attributed "my tiredness" to having had radiation for B-Cell Non Hodgkin's lymphoma. I am now having difficulty walking up even the slightest of inclines. Almost over night I can no longer go up a flight of stairs without having to stop at least once to rest and then I have to practically pull myself up the last few steps. I've had some heart problems and two weeks ago I underwent a stress test. I've passed numerous stress tests before - gone 10-12 minutes without a problem. This time I only lasted 3-4 minutes. Almost immediately my blood pressure skyrocketed to 206/70 and they stopped the test. My EKG during the test was normal. Their diagnosis was "exercise induced hypertension." My chest was tight and I had the usual difficulty breathing. My legs were very weak - I thought they were going to give out and cause me to collapse. It sounds like what they thought might be heart problems might actually be the Alpha -1? It's as though it came on over night. Is it common for Alpha-1 to come on this quickly?

@nancyjac, I cannot answer the question about how rapid your disorder is coming on. Have you Googled the subject or visited their website? Also, you can start your own on-line support group for Alpha-1 on Connect. That way you cam get feedback from people who actually have it.

I just returned from the doctor and received the rest of my results. I am SZ and my level is 62.8. My doctor seems to be extremely knowledgeable on the subject, but he thinks I could benefit even further by seeing Dr. Mark Brantley in Gainesville.

He is also arranging for me to receive monthly infusions. I'm not sure what I think about that. Do any of you receive infusions? Do they help? He sent me home with an overnight pulse oximetry device to measure my oxygen levels when I sleep.

While I like the fact that he is being so proactive - I hate receiving these results.

Do you think I could benefit by coming to a support group meeting or at this point to do you recommend I just keep reading up on everything? It looks like the closest one is over 1.5 hours away.

@windwalker @waterboy @colleenyoung

Nancy,
If I am not wrong, you will pass to your children, an S or Z. All the more reason to have them checked.

Our three children are in their late 30's and early 40's. Thankfully, none of them have ever smoked. I already know that we are going to have a hard time convincing them that they should be tested. I broached the subject with them before I knew what my levels were and they think I am being an alarmist. They've never heard of Alpha -1 and like many "children" they think they know better than their mother and father. The fact that I have a terrible time walking up stairs or walking any distance doesn't seem to phase them. At this point I'm more worried about our grandchildren who range in age from six to nineteen.

Has anyone seen any information on how to convince reluctant adult"children" to get tested?