Blood test result is back and i have to go for more tests as they found an abnormality concerning the alpha 1 thing :(

[carrina]

I dont really understand anything about this alpha1 deficiency . Was told when first diagnosed that my emphasema is genetic ( mum died from emphasema ) but they have never given me the blood test to be sure of that fact. I asked for the test when i was told by others on this site that i need to get it confirmed that way and so i did. Now i have to wait again for results and i am unsure what they will be testing for.

[corriena]

Having the alpha 1 antitryipsin deficiency will not realy impact on your life. You have already been told you have empacemia and your progress should be monitored regularly about 1 a year depending on how your empacemia is doing. All you can realy do is as we all know avoid smoke including bbq's, exercise regularly and eat a healthy diet. And avoid infections wear possabl. Try not to worry you can still slow down the progression by following this guid. (Unless you are in the states as they will give antytrypsins but n.i.c.e say thear is no real benefit to this)

[carrina in reply to corriena]

Thanks for the reply . I am taking care not to go out when the pollution is high, or to be around people with coughs etc. Taking a trip to my organic food shop in a bit to stock up on carrots and kale and other things that i use in my juicer as that seems to help ward off infections. I do feel inspired by some people on here that are so strong and positive and push themselves to the limits. Makes me feel so much better to read about their achievements.

[micktheknife]

Sorry to read that Carrina.

I had no idea that COPD had a genetic component, I thought it was a disease caused by external or environmental factors.

My father had it (probably from the 60 a day Park Drive plain he smoked for many years), and I did wonder if my problems were genetic, but I was told probably not.

If you are concerned, find out the email address of your consultants secretary (just ring the department and as to speak to Dr xxx's secretary, tell them you have some specific questions, and could they be passed on to doctor xxxx), and email him or her with the questions. I've had great success with this, and often get info back quickly - at the worst, it provides a basic agenda for the next consultation.

Hope this helps.

[carrina in reply to micktheknife]

Thanks. I knew it could be genetic but i dont understand any of it to be honest, I think there are different aspects to the alpha1 , like some could be carriers and it ranges in severity , there are different letters after the alpha1 which show what is what from what i have read ? But im no expert on it

[micktheknife in reply to carrina]

Carrina,

Become your own "expert" - the GP's don't have the time or inclination to become an expert in your disease, and as you say consultant time is limited. I would learn everything you can and use your face to face consultant time efficiently to confirm your knowledge is correct.

Don't be afraid to write stuff down during your consultation and look up definitions afterward.

Best of luck

[carrina in reply to micktheknife]

Thanks micktheknife. I just read this explaining all about it and found it really clear to understand . blf.org.uk/support-for-you/...

[Hidden in reply to carrina]

You will need to be your own researcher. My crew of specialists have less knowledge about alpha then I do. Also, they don’t have the time or desire to chat for long about the disease during office visits. I’m an alpha one ZZ. Here in the states many go on Augmentation therapy. I’ve chosen not to as such a very small percentage of the alpha 1 protein ever reaches ones lungs. My opinion only of course. However I do have friends with alpha and over the past ten years they have progressed as fast if not faster than myself while on augmentation . It’s a personal decision. You need to find out more details first. Whether you are a carrier or what genetic type you are. Maybe you won’t even have alpha one. So a day at a time. People live long lives with this genetic disease.

[corriena in reply to carrina]

Yes thear are different letters i forget what i am but i know my daughter is a carrier wear as i have a full deficiency

[Hidden in reply to corriena]

I’m a ZZ which is the worst geno type. So I can only give my kids a Z. my wife is a normal MM. so all of our kids are MZ carriers.

[carrina in reply to Hidden]

Yes ,sorry about that. Ive been reading about it on the british lung foundation page. I understand it more now what is involved .