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!

@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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@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.

Liked by nancyjac

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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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@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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@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.

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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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@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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