Alpha-1 Antitrypsin Deficiency - just been diagnosed

@nancyjac Hi Nancy. It has been years since I read up on Alpha-1 once it was decided my levels were too high to warrent infusion. My pulmonologist wanted me to do the infusions because my lungs were rapidly deteriorating. I called a person at the Alpha-1 Association and they said "No" I did not need to be on it. I cannot remember what the number is that determines when you need the infusions but I believe ypur level is low enough to need it. An hour and half drive is far, but do-able. I'd go and make some connections and then maybe you can stay in touch by phone and e-mail.

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.

@nancyjac, Yes! Non-smoking carriers of one Alpha-1 gene can and do get serious lung disease. I am a prime example of that. From what I have read on their website; that is not uncommon. They do not fully understand the full extent of Alpha-1. They do not know why carriers can get quite ill with lung diseases. We have one other member in our group who is also a carrier, besides Bill @waterboy.

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?

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.

@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.

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?

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

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.

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.