Alpha 1 anti trypsin deficiencey

Chest and lungs
1

Hi, yesterday I was told that I had tested positive for Alpha 1 Anti trypsin Deficiency. I must admit It came as a bit of a surprise as I am awaiting various scans to check for lung / heart embolisms, so hadn't given much thought to anything else. The good news, ironically, is that so far it looks like I have a very healthy heart!

The Doc is arranging genetic counseling for myself, my son and my daughter. I was also told to contact my siblings and advise them to get tested, and to ensure that their children are warned not to risk smoking.

Alpha 1 can cause emphysema even in non smokers. In ex smoking copd'ers like myself it can mean a faster than usual lung deterioration. The main thing now is for me to avoid even catching a cold to minimize any inflammatory processes.

The dear of a doctor who has been treating me has been so helpful and encouraging. He is a great believer in educating the patient so as to equip them with the knowledge to manage and fight their disease to the best of their ability. He also believes that the level of exercise someone does and the amount of muscle tissue they can hold onto / build plays as big a part in survival and quality of life as does FEV1 scores. He was saying how someone with a relatively high score of say 40 to 50% can be in worse shape and have a poorer outlook than someone at 20% who has seriously built up their muscle power, stamina and general fitness levels. SOB is also strongly related to lack of regular exercise.

I was a bit upset to learn that I had only lost four pounds in four weeks, as I have stuck to a 1.200 calories a day and worked up from two minute sessions on my treadmill to a minimum of a mile a day! I have also been doing upper body exercises including weights to strengthen my breathing accessory muscles and diaphragm as I had read that a weakened diaphragm played a major part in breathing difficulties. While I already feel some physical improvement, I am vain enough to care as much about getting my figure back. The Doc despairs of me! He is pleased that I am only losing a pound a week as he feels losing more would mean not gaining any new muscle, and he sees that as the major priority. I know he's right, but that means no sylph- like figure for at least a year or two. :cry:

Well, that brings me up to date on the medical front for a week or two. I have another hospital date for an ultrasound chest exam of some sort in two weeks time, but we now expect that to be OK as it looks like we have found the fly in the ointment with the Alpha 1. Sadly I will no longer be under the lovely Doc Rupert as he is putting me under some other thoracic guy from now on. I cannot thank Doc Rupert enough, he has done more , found more and explained more in two visits than all the others put together over the past year. What a Doc! And in spite of the pretty damming bad news of the Alpha 1, he has left me feeling more optimistic and in charge of my own destiny than ever.

Hope to bring you more details re Alpha 1, genetic counseling etc as and when it all unfolds. In the meantime, love to all my fellow copd'ers, wishing you all 'easy breathing' and many blessings, Vanessa xx :wink:

2

PS. I finally got DLA higher rate mobility allowance! :wow: Also, I spent this afternoon assembling my new exercise bike - did it all by myself, took plenty of short rest breaks so it didn't get too taxing and think I still probably did it quicker than most fella's would because unlike them, I DO follow the instructions! x Van

3

Really gone down today. Think I've been in denial re the implications of being Alpha 1 over the weekend. Worried in case I've passed the gene on to the kids too. Isn't it enough that we have copd, without all these other things. There's not even any treatment for alpha in the UK. In the States you get a weekly transfusion of the missing antitrypsin to slow down the attack on the alveoli. In the UK they just prepare you to expect sudden deterioration. Makes you wonder why they bother to test for it in the first place. Think I'll go and stuff my face, don't see the point in doing all this exercise and diet stuff. Think I've just been kidding myself. Van

4

Hi Van, My nurse once commented that the NHS is not set up to serve sick people - and she was right. I don't know anything about Alpha 1 Anti trypsin Deficiency. However, I can imagine the impact of knowing your kids may be affected by it. It is sickening that there is a treatment available - but not in this country. I don't know what else to say. Hopefully someone who knows more about this will see the post and be able to offer better advice.

However, that is no excuse for giving up lady!! In fact I think it is enough to bring you out fighting. Who will win - the Alpha 1 Anti trypsin Deficiency or Vanessa? I don't know the prognosis but I bet you last longer if you stay positive, eat healthily and exercise. And you can set a good example for your children who have a better chance as they now know to avoid cigarettes. Also, I think this can be improved by lung transplant? Try the website Alpha 1 org which may have more info. Don't you dare give up Van or I promise I will come to Cornwall and slap you!!

PS Congrats on the DLA stuff.

Jacee

xx :cuddle:

5

Cheers Jacee,

Sorry about getting the miseries, I'm still a bit blue but I guess it is a natural reaction to the news sinking in. I do know it will pass and I will come out fighting again. Last night I found myself wishing I had a partner and feeling sorry for myself about that too! This morning I am glad I don't have one as I can plan my life pretty much however I like, and besides, it wouldn't be fair to put some chap through my misery moods!

Isn't it lovely to hear from cats and dogs again, and also to find new friends like Flossie and Knitty - It's really helped to cheer me up already! I hope they keep in touch.

Must go and either do some cycling or walk a mile on the 'Dreadmill' (think it will be the bike, it's definitely the easy option and I can watch TV at the same time!) talk to you again son, lots of love Vanessa xx

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Hi Van

Yes, a natural reaction and we are all entitled to the blues sometimes. smile

Lovely to hear you talking of fighting back though and your level of exercise is truly awesome - I feel like a sloth but keep putting off getting started, using SOB as an excuse though I know its a vicious circle, the less we do the less we are able to do. I did pulmonary rehab early last year (before going on oxygen) and have really let things slide recently. However, although you usually only get one shot around here, I have been re-referred and will start again next Monday, so I hope to be able to report doing better soon.

Jacee

xx

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Hi Everyone,

I have been checking out about A1AD & have just read this:-

“In A1AT deficiency, neutrophil elastase cannot be neutralised efficiently, so it's able to destroy healthy tissue. The common result is emphysema of the lungs. It's thought that abnormal A1AT also collects in the liver and can contribute to liver cirrhosis, although many people with AAT deficiency don't develop liver disease.

In the liver, damaged liver cells become scarred and fibrosed as a result of inflammation. This damage, known as cirrhosis, is irreversible and leaves the liver functioning poorly. Loss of weight, abdominal fluid collection (ascites), jaundice and easy bleeding may all result from this liver damage.

To protect the liver from further unnecessary damage, people with AAT deficiency are advised to avoid alcohol and, if possible, medicines that may harm the liver. It's also important to eat a healthy diet packed with fresh fruit and vegetables.”

I think I will seriously talk to my sons about getting tested as they both “binge drink” at weekends despite my lecturing!

Thankfully I was never a big drinker myself & now just a glass of wine gives me a headache.

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Hi Vanessa, Just seeing is this can be posted.

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Hello again I spent over an hour last night trying to get a message through but to no avail. The time I spend on this thing getting nowhere! Anyway Van so you have more bad news- just when you think things can't get worse they do! LIfe's a bitch.......... I hope you are feeling more positive now. This can be. very hard I know but it is the only way forward. Always keep fighting and try not to let it get on top of you - I'm sure thats how I have survived the last 15 years and to the best of my ability I try to keep busy . If you don't use it........... Like you Ilive on my own. I am separated, have three children and 7 grandchildren but try to live as indepently as possible. Keep smiling Vanessa and KEEP GOING (no matter what it takes). Life is for living- at least making the most of what we do have. I do hope I'm not 'preaching' posted a much better one last night. Guess what this has taken me 40 mins. so far! MY thoughts are with you. Keep in touch CArole

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Hi Carole, what a lovely positive post! You are so right about keeping positive and using your muscles, etc. Life is for living is a good motto. I can't understand why posting is so difficult for you. I am useless at IT and manage without problems. I just click on the \"reply to experience\" box at the end of the last message. Then I just type in the box and click \"submit\". That's what I do anyway and I don't have any problem. Carole, do you know what though - if it takes so much effort and time to post a message the end result is even more appreciated! Take care Carole

Jacee

xx

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Hi cats and dogs / Carole,

Thanks for your message of support, and for persevering with posting it after your big fight with the computer! Don't worry, you are not the only one who can get in a pickle with it either! This was the first site I ever posted on - I joined and then just used to read everybody else's 'till I eventually plucked up courage and had a go - since then no one's been able to shut me up! :lol:

I'm a two finger typist too, I just wish I could go faster to keep up with the thoughts running through my mind - but then I'd probably end up writing a book! So keep those posts coming Carole - you are a wealth of info when it comes to the meds etc - compared to you the rest of us are a bunch of amateurs! Hope you and your cats and dogs are all well and happy, lots of love Vanessa xx

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woof,woof, miouw,miouw. Guess who. Thank you for responding to my post at least it got through. I used to be a secretary but now its either my fingers or my brain (both?)that don't work! I keep making mistakes and the other night no matter what I did it would'nt 'submit'. I have 10 mins. to kill and would you mind if I 'off-loaded' my list of illnesses etc., I rarely do this as I don't want sympathy etc., My family know I have problems but do n't know how many.To start - c.o.p.d. bronchiectasis (lung), diabetes, atrial fibulation (heart) Peripheral vascular disease (arteries),high choleseterol,high blood pressure, blepharitis (eyes), diverticulosis, GORS (stomach),foliculitis, tissue paper skin (i only have to 'look' at some thing and I bruise or bleed- covered in scars (mainly arms and legs but also face and chest), peripheal neuropathy, (feet and ankles numb and swollen) and now I thi nk I have developed 1 carpal tunnel syndrome - bloody painful! 14and counting . So all in all I'm doing quite well are'nt I? On a brighter note I have always had dogs and cats but my JR had to be re-homed last July as I was nolonger able to exercise her. STill have 2 cats though. 10 mins has gone - more like 30 mins. I keep making typing errors. Love to u all.

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Hiya Carole, well done for getting another message through! I have copd (emphysema), chronic low blood pressure and GORS - and I thought I was badly off. It's nice to see you can still stay cheerful. I find cats also cheer me up - I love the way they can practically take care of themselves and are so independent - I think that they think that we are their pets, rather than the other way round!!

Glad you are with us and hope you keep popping up to offer help and advice from your vast experiences.

Jacee

xx

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Carole - I know what you mean about thin skin - I barely have to touch the skin around my ankles and it just seems to break up like tissue paper - I don't know why as I've only had Prednisone a couple of times and I always thought that was responsible for that kind of thing.

GORS - thats a new one on me and I thought I'd heard it all - this thing is endless isn't it! Do explain please someone, thanks. Vanessa

PS off to hospital again today, the bigger one in Plymouth so thats a 60 mile round trip. I have been dreading this Ultrasound Scan, not for any medical reason but because since putting all this weight on I find It embarrassing to undress my top half - I could cry, I feel so humiliated and desolate. To say my former 'assets' are now of matronly proportions is an understatement and I've lain awake the past few nights worrying about it. Daft I know, it sounds laughable. I should have had my routine breast x ray tomorrow too but I couldn't face the humiliation two days on the trot so have canceled it. :cry:

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Hi Van, GORS is nothing more than acid reflux really. About the other thing - we are all in the same boat. I hate to undress but then I always have, originally because I was too skinny and all my bones stood out and now because of the rolls of blubber! However, one trick is to ignore the lithe nurses and concentrate on the bigger ones and the males present. Most of them are in pretty poor shape and it amuses me to imagine them undressed My imagination runs riot and I come out very cheered up - maybe I just have a sick sense of humour? Good luck with today's scan.

Jacee

xx