Alpha-1 Antitrypsin Deficiency - just been diagnosed

Posted by nancyjac @nancyjac, Aug 18, 2018

We recently moved to Florida so I've had to find new doctors. I went to a new pulmonary doctor who was very thorough. After reviewing my pulmonary function tests and asking me questions about my family history etc. He suspected that I have something called Alpha 1. They did a blood test and called me ten days later and told me that I the blood work came back indicating that I have Alpha-1. They gave me a brochure with various web sites that I've gone on in an attempt to learn more about the disease. Is there a discussion group here about Alpha-1? I would really like to be able to be in a discussion group with folks who have been diagnosed with Alpha-1 to learn more about it. Thanks!

Interested in more discussions like this? Go to the Lung Health Support Group.

@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!

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@nancyjac

@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!

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@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.

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@nancyjac

@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!

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@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.

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@colleenyoung

Hi Nancy,
I'd like to bring @waterboy and @windwalker into this discussion. They have also written about Alpha-1 Antitrypsin (AAt) here on Connect.

I know you said your doctor already gave you a brochure with several websites. Here are a couple more for further information.
> Alpha-1 antitrypsin deficiency - NIH https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency
> Alpha-1-antitrypsin deficiency: A liver-lung connection - Mayo Clinic https://www.mayoclinic.org/medical-professionals/clinical-updates/pulmonary/alpha-1-antitrypsin-deficiency-a-liver-lung-connection

Was there a website that you found particularly helpful in explaining AAt? What symptoms led to your seeking consultation with a pulmonary doctor? What are the next steps?

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@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.

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@waterboy

Nancy,
I would add http://www.alpha1.org
They have ppl u can talk to that can add to ur info and resources.
In your test report it should mention ur GENOTYPE AND LEVEL...I am an MZ,carrier, and my level is 112. M is the normal gene and z is the problem one. What is ur stage of COPD, did you smoke and when did you quit... it is the first thing that MUST BE DONE, NO OPTION.
IF I may suggest a Dr to talk with at mayo rochester.... Dr Patel, wonderful person.
Also there is a mindful breathing lab at mayo...call and talk with Joanna Holt, see if she can get you into a clinical trial.

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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

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@nancyjac

@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!

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@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?

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@nancyjac

@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!

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@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.

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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

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

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@waterboy

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

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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?

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