BAAAD GENES

[lizgentrycharles]

At 47 I was diagnosed with emphysema though I knew I hadn't smoked "enough". Last year at 59 I was finally diagnosed with Alpha-1 Antitrypsin Deficiency, a very rare but very bad genetic disorder. I'm putting this out there so anyone who has been diagnosed with emphysema "too young" (under 50) will get tested. I also had terrible irritable bowel syndrome in my thirties which is another one of a multitude of symptoms . Had I been diagnosed earlier I could have been receiving the treatment which is probably now too late to save my life. Just sayin'. If your doc won't do it you can contact the Alpha-1 Antitrypsin Deficiency agency online and request a test. I lost twelve years of treatment because my doc didn't test me at 47. Don't let that happen to you. There's oodles of info online. Good luck and may you be negative!

[Lolly2]

It was your post about BAAAD which reminded me of the email a friend sent to me. The initials reminded me......I was, in no way, making fun of your disorder....just in case someone takes it the wrong way!

Love Lolly. x

[Hidden]

I am really sorry to hear that. Alpha 1 is a very nasty genetic disease isn't it? The trouble with doctors is if you smoke at all they tend to overlook anything else which could be causing your symtoms and just diagnose you with copd.

The NICE guidelines actually say if someone is a smoker look at a diagnosis of copd first. Trouble is it tends to be first and last! I hope you can now get the treatment you need and deserve and you have many more years ahead of you. Take care. x

[Hidden]

Hi, ur right about alpha 1, anyone under 50yrs old and diagnosed with emphysema should ask to be tested. I was diagnosed copd when I was 36 but have had lung problems since birth, deteriorated quite quickly and at 41 I was diagnosed with emphysema in the May 2014 in June 2014 was told I was an alpha 1 ZZ phenotype, all my kids had to be tested due to it being genetic, luckily they are all MZ, carriers but if a partner they have is also an MZ any child they have could end up a ZZ, as its a gene from each parent. It's a horrid disease as is any lung disease. there are several phenotypes

MZ= carrier

SZ= produces low but adequate alpha 1 anti trypsin

FZ= same as above

ZZ= nil or inadequate amount of anti trypsin to protect lungs.

Treatment is the same as copd/emphysema sufferers, although I am now under professor stockley at the QE hospital Birmingham, who researches alpha 1 ZZ phenotypes. I believe there is 3 such clinics, London , Birmingham and Scotland there may be more but these are the 3 I know about.

But again I urge anyone who is diagnosed with emphysema in early age or b4 50 yrs old ask for a test as it could involve other members of ur family . Take care. Xx Sonia xx