Share this:
nancyjac
@nancyjac

Posts: 20
Joined: Aug 16, 2018

Alpha-1 Antitrypsin Deficiency - just been diagnosed

Posted by @nancyjac, Sat, Aug 18 9:53am

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!

REPLY

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?

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.

@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.

Jump to this post

Sorry I overlooked that you moved to fl.

@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?

Jump to this post

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

@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.

Jump to this post

Thank you Bill. I did smoke – I quit twenty years ago. I have no idea what my stage of COPD is. That is something I will ask when I speak to my doctor this week. I don't know what a "mindful breathing lab" is either. I obviously have a lot to learn. I have spent some time on the alpha1.org site. We have three grown daughters. Thankfully none of them smoke or have lung issues. I'm hoping it is not necessary for them to be tested. I probably won't find out if I am a carrier and what my level is for several weeks once they have done more testing.

Does anyone have any suggestions regarding what questions I should be asking my doctor? The doctor did Pulmonary function tests but I didn't see anything about a COPD stage. I know my Emphysema is only mild/moderate.

Thank you for sharing all of this information with me. I really appreciate it.

Nancy Jacobs

@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.

Jump to this post

Great tip on Mindful Breathing, @waterboy

@nancyjac, you can read more about Dr. Benzo, Mayo Clinic and his work in COPD and mindfulness on the Health & Mindfulness Page on Connect here: https://connect.mayoclinic.org/page/mindfulness-in-health/
The page includes 10 blogs of mindfulness exercises as well as video and audio files for guided practice.

@waterboy and @windwalker are best suited to help you prepare questions for you pulmonologist. So smart of you to ask others what to ask because we often don't know what we don't know.

Thank you @colleenyoung The older I get the more I realize "I often don't know what I don't know." LOL

@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?

Jump to this post

@nancyjac, Hi Nancy. Your story reads like mine. Well, sort of. I had the 'asthma' diagnosis for years, and the numerous pneumonias since my 30,s. I am like Bill, I am an MZ carrier with the same low score of 112. For some reason, carriers can get serious lung diseases too. I am so sorry to hear that your test came back positive for it. I pray that it stays at this level or even improves with treatment. Bill is right, if you are positive AND smoke, it will put you on a fast track to death. That is what happened to my mother who was ZZ and smoked. She died at age 58, way too young. That can be a hard diagnosis to take, but, please know that Alpha-1 can affect people differently. Some people have it and don't get sick at all, and some have it where they are sick to some degree, while others get very ill. I see that Bill provided you with the Alpha-1 link. I have been on it myself, it will give you a lot of helpful information. You can sign up for their newsletters and find out if there is a physical support group near you.

@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.

Jump to this post

@nancyjac, Nancy, there are genetic councelers you can call and talk to about having your children tested. You can find the number on the Alpha-1 website. They say you should have your children tested because if they are a carrier, then if they should ever get married, their spouse will also need to be tested to see if they too are a carrier. Two carriers increase the odds that their offspring will also have it full blow ZZ.

@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.

Jump to this post

I very obviously have much to learn here. I was under the impression that it wouldn't become a problem unless you were a smoker. I'm thankful that none of our daughters or their husbands smoke. Can it be an issue if they have never smoked? Sounds like I need to talk to a genetic counselor once I receive all the information from the testing.

@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

@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!

Jump to this post

@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

@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!

Jump to this post

@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.

@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?

Jump to this post

@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.

@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.

Jump to this post

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

Please login or register to post a reply.