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

Nancy, I would also recommend going to the in-person support group. It will be informative to hear the speaker and ask questions relevant to you. Making connections will be invaluable. You can also tell them about Connect and invite them to join you hear to stay connected. As this discussion remains active, it will attract more people to join the conversation.

It would be amazing if you could share what you learn from the speaker, Dr. Brantly too. Would you mind?

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I think my husband and I are both going to go. @windwalker Terri said she was going to ask you about starting a discussion group for Alpha -1. Would that be possible to do? I'd be more than happy to report back on Dr. Brantly's talk. Thank you.

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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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@nancyjac You can call the Alpha-1 Assoc. and request info pamphlets for each of your children, along with free testing kits. The pamphlets will explain the hereditary implications. All they have to do is prick their finger and put a drop of blood inside three circles and mail it to the Apha-1 Assoc. The gizmo that pricks your finger is spring-loaded (so it doesn't take guts to do it). The results are confidential, it cannot be shared with insurance companies or anyone else. I have asked my daughter and my siblings to do the test. My brother had one of his three children do it and it came back negative. All others have declined. I think that is a fairly common response.

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@colleenyoung

Nancy, I would also recommend going to the in-person support group. It will be informative to hear the speaker and ask questions relevant to you. Making connections will be invaluable. You can also tell them about Connect and invite them to join you hear to stay connected. As this discussion remains active, it will attract more people to join the conversation.

It would be amazing if you could share what you learn from the speaker, Dr. Brantly too. Would you mind?

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You already have started a discussion group about Alpha-1, @nancyjac. 🙂 This discussion is how we start groups. Now we'll work together to bring more people into the discussion. I'll write you a PM about details.

I look forward to your report back from Dr. Brantly's talk. When is the meeting?

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@nancyjac

You are right – I should go to a meeting. I was just looking at one support group in Orlando and see that the speaker at their next meeting is Dr.Mark Brantly. I will definitely go. Thank you.

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This is the contact info for the Jacksonville area alpha1 group. I just recently found this group so I haven’t been to a meeting yet. I think they are targeting October for the next meeting due to Jessica’s upcoming due date. Jessica also just happens to be a genetic counselor at Mayo Clinic.
Jacksonville Alphas At Gmail (sorry the site won’t let me post her email correctly so put the words together in email format)
Jessica Jackson, MS CGC
Board Certified Genetic Counselor
Alpha-1 Foundation
Alpha-1 Support Group Leader
Jacksonville, FL

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@nancyjac

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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My son is a 44 y.o. ZZ alpha with liver & lung disease. The smartest thing we did in 2014 when he was diagnosed was established him at Mayo Jax with liver and lung Doctors. Today he is receiving weekly infusions for his lung issues and listed for a liver transplant. This is the testing process suggested for us.
First siblings to be tested, so if you have siblings they should definitely be tested.
Next your husband should be tested to determine if he has an Alpha gene. If he does there is an increased risk for your children having 2 alpha genes.
Since you KNOW you have an S & Z each of your children WILL have an S or Z since you get a gene from each parent. Meaning they are “carriers”
The problems arise from the fact that their is so much unknown about Alpha1 & why some people are more severely effected and others not. The only thing know for sure is if you have it you must protect your lungs from not just any tobacco products but also any airborne substances that could be harmful. And protect your liver from any medication prescribed or over the counter that could damage your liver. Yes no alcohol too.
You can get FREE anonymous testing from the alpha foundation.. they will also assist in getting the infusion meds approved from your insurance company.

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@nancyjac

I think my husband and I are both going to go. @windwalker Terri said she was going to ask you about starting a discussion group for Alpha -1. Would that be possible to do? I'd be more than happy to report back on Dr. Brantly's talk. Thank you.

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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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@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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