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!

@colleenyoung

Hi @nancyjac, just checking in. Did you go to the support group in Orlanda yet? If yes, how was it? I'm also wondering if you saw the messages from @pattykuhns about her son and genetic testing? Would love to get an update from you.

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I went to the Gainesville support group, I see Dr Brantly this Wednesday. He will not be the speaker after all at the Orlando group.

I had not seen the response. Thank you for drawing it to my attention!

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@nancyjac

I went to the Gainesville support group, I see Dr Brantly this Wednesday. He will not be the speaker after all at the Orlando group.

I had not seen the response. Thank you for drawing it to my attention!

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@nancyjac Hi Nancy! How was the Alpha support group? Were there many people there? Were you able to get more of your questions answered?

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@windwalker

@nancyjac Hi Nancy! How was the Alpha support group? Were there many people there? Were you able to get more of your questions answered?

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@windwalker I met some really nice folks at the Gainesville support group. I learned some new information and the man sitting next to me ended up being my nurse for my infusions that I started last week. I’m looking forward to seeing Dr Brantly tomorrow for the first time.

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@nancyjac

@windwalker I met some really nice folks at the Gainesville support group. I learned some new information and the man sitting next to me ended up being my nurse for my infusions that I started last week. I’m looking forward to seeing Dr Brantly tomorrow for the first time.

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@nancyjac Hi Nancy! I am so glad you got something out going to the support group. What kind of things did you learn from it? Will you please keep me informed on how the infusions are working for you?

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I am diagnosed as mz. Which means I am a carrier.

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@windwalker

@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.

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@windwalker, Terri, in this post you mentioned a low score of 112….. what is that from. The information I got on my alpha 1 test was that I was a MZ and then had a 82? So what does that mean? And my next question is can drs. tell if you copd is caused by smoking or by alpha 1. Is there a difference in the appearance of the lungs on the ct scans……….. Thank you

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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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@waterboy

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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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@colleen. Do you or anyone know how many conditions have been proven or reseached connected to alpha 1. Do drs ever join any of thes discussions. Just wondering

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@sakota, I don't know know how many conditions are related to the alpha 1 gene. I found this resource from the NIH that is a good place to start looking into the most recent research and knowledge. https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency

Connect is an online community, connecting patients with each other. Mayo Clinic experts participate on Connect through the Pages (blogs) and Video Q&As.
– Page Directory: https://connect.mayoclinic.org/pages/
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You can read more about Connect and its components here: https://connect.mayoclinic.org/page/about-connect/tab/more-about-connect/

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