Alpha 1 deficiency: Hi. I am new to... - British Lung Foun...

British Lung Foundation
45,114 members52,744 posts

Alpha 1 deficiency

Baldwin27
Baldwin27

Hi. I am new to this community, as this is my first post. But hoping to find some answers and encouragement. My doctor found that I am alpha 1 deficient on a recent blood test and probably have been for my whole life. Now at age 43, I’m getting genetic testing to determine the cause/severity, along with a pulmonary function test today. I’m convinced I’m going to be diagnosed with emphysema since I get short of breath from walking around the block and smoked for 15 years (now quit). I’ve read about the liver and lung damage caused by this disease am scared to death I won’t make it to 60! I have three small kids that I want to see grow up, but am having anxiety and panick attacks thinking about that not being in the cards for me. I’m hoping there is someone who can help provide more info - or personal stories for those willing to share - about treatment, living with the disease, prognosis, encouragement, etc. I am really scared!

17 Replies
oldestnewest
Hidden
Hidden

I am alpha 1 ZZ allele. The worst geno type. It is passed to us from our parents. It is common to present in ones 40’s. I was officially diagnosed when I was 47. I’m now nearing 58. I don’t seem to have liver issues, just lungs. Everyone progresses different. There is no way to guess about all the what if’s. No smoking and no alcohol. Exercise as much as possible. Use it or lose it they say. Some progress quick some slow.

Baldwin27
Baldwin27
in reply to Hidden

Thanks for replying. Do you mind sharing what your alpha 1 levels are? Mine is 50mg and wondering if that’s dangerous or puts me at high risk for more problems.

Hidden
Hidden
in reply to Baldwin27

Being in the USA the paper said 2.9. ZZ. I WAS TOLD IT WAS BAD. AND IM 25% Fev1 at last April’s pulmonary function test. I’ll do another one this April to see where I’m at.

Hidden
Hidden
in reply to Hidden

2.9 mmol/L is what my test result says. I don’t know how to convert that into the way your numbers probably are.

Hidden
Hidden
in reply to Hidden

So I converted it and it comes out to 16 mg/dL

Baldwin27
Baldwin27
in reply to Hidden

Thanks for the info. All the best to you on your upcoming tests.

Hidden
Hidden
in reply to Baldwin27

They say below 80 mg puts a person at risk for lung disease. If measured in mmol/L below 11 puts one at risk. I’m 2.9 calculated that way and 16mg calculated the other way.

Hello there, I also have Alpha 1. The most severe version ZZ. My levels are 0.13 g/l so very low. I just turned 60 and I am still well. As others have said there is no telling with this condition! If you would like to be in touch with hundreds of Alphas across the UK and beyond there are a couple of Facebook groups that you can ask to join - search for Alpha1 support and Alpha1 awareness. The groups also have websites and can send out information pamphlets. Don't panic!

Greetings

I'm also an Alpha-1. The consultant told me that as a sort of "oh, by the way" comment, when he told me that I had emphysema. I was 38, and A-1 meNt nothing then. I'm 71 now -- so there's life after diagnosis. Chin up, shoulders back: the future is bright.

Catnip.

Hidden
Hidden
in reply to Catnip

Impressive! Are you a ZZ?

Catnip
Catnip
in reply to Hidden

Hello! No, I'm an MZ, and other than that, know nothing else. There's no treatment offered here, so it's irrelevant, really. Dad was 58 when he died (cancer, but he could walk about 5 paces then stopped, gasped, got his breath -- repeat). Mum was never properly treated for respiratory problems.

Mind you, I grew up in the coal and steel industrial north of the late 1940's to 60s with the inherent grimyair, smogs, coal fires, and a dad who smoked. I started at about 13.

Such is life. I'll never go on a trampoline again, or do gymnastics, or prance about in a tutu and pointes -- probably a good thing at my age!! -- but I still get about with the help of oxygen. Things get harder so one has to keep the focus and smile.

Be happy. Have a great 2019.

Catnip

Hidden
Hidden
in reply to Catnip

I was thinking you were an MZ. ZZ has a very low serum level and few live to your age even with transplants. Oops..my glass half empty attitude again. Although I like to think of myself as a realist.

Baldwin27
Baldwin27
in reply to Catnip

How long have you been on oxygen?

Catnip
Catnip
in reply to Baldwin27

Hello.

I've been using oxygen for about eleven years now: I've always had 4lpm ambulatory. Then I had 3lpm added as LTOT about 5 years ago. Two years ago, I was hospitalised for three weeks with a viral infection and pneumonia and I've been on 24-hour oxygen ever since.

It's a life saver!!

Catnip

Good information -- provided by others. I'm a ZZ Alpha. You get the alleles from your parents -- one from each. Important for your children to confirm if you are a ZZ, SZ, or

MZ . ALSO very important for your children to have their other parent tested. My wife is a MM -- so our three children are MZ's -- carriers who need to be careful with their lungs.

I'm 64 -- with a FEV-1-- of 18%. Still alive and working -- but on oxygen about 15 hours a day.

The best thing you can do is -- take care of your lungs and body -- now that you know.

All the Best!

JCL

Thank you all for sharing your stories. I’m waiting on the results of my gene testing, but lung tests came back okay for now. It’s good to know there is a community out there for support and info.

Hello! I am one of the Support Group Leaders in Illinois. You can find some great resources at alpha1.org. Also feel free to send me a request on facebook or send me an email.

Jackie Carey English--jackieenglish@live.com

You may also like...