Does anyone on here have alpha one antitrypsin defiency?

[flo1]

Just wondering if anyone shares my disease?

[mustcarryon]

I've never heard of it, what are the symptoms?

[richardcrossroads]

yes i have it, it is genetic, and severity varies, affects lungs, liver, and more, makes those with it more prone to Emphysema but in others remains in the background with no effects, if you are a smoker makes you more prone.

Richard

[Margs in reply to richardcrossroads]

Please make an effort to be at this event we are short of patients too many are too ill to attend, can you be there please? alpha-1-alliance.org.uk/pol...

[AlBlownout]

I have it too. Your doctor will have done a blood test and should have given you a figure for your Alpha 1 between 0 and 1.5mg. The higher the better. You should also contact the specialist centre unde Prof Stockley and Queen Elizabeth Hospital in Birmingham. Do you have emphysema?

[Margs in reply to AlBlownout]

Please try to come to this event we need as many patients as possible: alpha-1-alliance.org.uk/pol...

[richardcrossroads in reply to Margs]

for me it would mean a hour on the train and taxi ride to house of commons, at the wrong time of year, I am afraid that it is too much for me, they should know that,

I am very sorry

regards Richard

[SusanneH]

Hi, yes i have it too, it just means you are more prone to have problems with your lungs and it can affect your liver aswell although i was told if i hasn't smoked i probably would never have been affected by it.Hope you get the info you need.

[Margs in reply to SusanneH]

Please come to this event it's really important to show medical need: alpha-1-alliance.org.uk/pol...

[hopetorun]

Hi Yes I have MS Gene which means that I am more prone to lung disease. there are several different combinations of gene abnormalities which cause different things varing from liver disease to lung problems. smoking is probably the worst thing you can do, along with excessive alcohol as the liver is less able to deal with it. But had we known that at 16 would we have done anything different probably not. If all else fails blame your parents!

[Margs in reply to hopetorun]

Please come to this event on the 10th December: alpha-1-alliance.org.uk/pol...

[vendfixer]

Me too. It's an anti enzyme produced in your liver and should protect your lungs, my reading is .25 and as an ex smoker (wish I had never heard of fags!) suffer for my stupidity. It usually affects one in five children. I would also recommend Prof Stockleys team at the ADAPT project at QE Birmingham, it is open to all and a brilliant source of information, there are also loads of sites and blogs if like me, you need information.

[Margs in reply to vendfixer]

Please attend this event: alpha-1-alliance.org.uk/pol...

[Catnip]

I've got it too, but when I was told, it was a sort of "PS" comment.it has become much more critical in the COPD world in recent years. From what I can gather, there isn't much that can be done about it.

Cheers

Catnip

[Margs in reply to Catnip]

Please attend this event with as many family, carers you can find: alpha-1-alliance.org.uk/pol...

[flo1]

Thank you for the replies, I run a group on the internet for sufferers of our disease, I was diagnosed in 2007, it is a gentically inherited metabolic condition, and it is a very severe one. Ex smoker and given only a couple of years left in 2009 to live I managed to turn it around and quit got myself a little dog and started to walk, fev in 2009 was 22% happy to report I am stable at 41% today on supplementary oxygen I am now 52, I attended Adapt for a few years just gone over to Royal Free in London under John Hurst , found the service good full check up ..which included : liver scan, chest x ray, bloods done and breathing tests. We are currently fighting for our right to access augmentation therapy the replacement therapy for alpha one patiens which of course helps stop the decline I have lots of into should you wish to find out more. They have formed the Alpha One Alliance now here in UK to help patients gain access to specialised services, better care and of course treatment. Our disease is yet not curable but we can improve and help ourseleves by a strict excercise programme ie walking, eating healthy, and refraining from both alcholol and smoking!

alpha-1-alliance.org.uk/abo... please feel free to take a look at what is currently happening for us here in the UK link above, I will try and post more when I am able, our group on facebook is Alpha One Action and Coalition, please feel free to join there are other groups too for Alphas in UK I would recommend people to join them as it will enable you all to learn so much more about our disease. Also you get to talk to other alpha's which is great and encouraging.

[KingoftheCocktails]

Thank you for your contribution flo1

KOTC

Your daily tonic

[Margs in reply to KingoftheCocktails]

We need as many patients, carers, family and friends to attend this meeting: alpha-1-alliance.org.uk/pol...

[Margs]

Hi everyone. A1AD affected, family, friends and carers. The Alpha 1 Alliance is holding a stakeholders meeting at parliament on the 10th December to submit a new policy report, we need everyone to be there to show medical need. Please make ever effort to be there if you are too ill you can send a family member or carer on your behalf. Please RSVP via the Alliance website: alpha-1-alliance.org.uk/pol...

[flo1]

Thanks Margs I was about to post on that today! London is a long way for many to get to and of course the time of year it has been planned for the meeting in my view is not such a great idea, due to the nasty infections flying around so I know they are struggling to fill those seats currently pehaps it would have been a lot easier on us all in say Spring? Has there been any news on the bio marker updates for therapy once access is gained in the UK? there seems to be nothing written or information on who will be privvy to it ifand when it gets to us all. Thanks.

[Margs in reply to flo1]

Hi flo 1. The Alliance campaign has to run in tandem with the progression of the Rare Disease, parliament and other campaign's run by government the Department of Health and NHS institutions, we do not want to miss the boat so to speak by submitting reports, plans and other documentation too late, that could spell disaster by delaying a Highly Specialised Service to patients desperate for care and treatment. It will be the Alliance Medical lead Dr Ravi Mahadiva who is also on the board of the COPD Commissioning Research Group CRG inducted by parliamentary ascension and the medical community stakeholders who will decide on the clinical pathways of care, treatment and therapy including bio-markers for access to long term therapy, continued monitoring of therapy and therapy discontinuation for example if the patient acquires another disease and the therapy is null and void or even harmful therapy must be discontinued. Rest assured though we are doing all we can to have influence in these matters as is promised in the New NHS "nothing about us without us" and the NHS Mandate and England Health statements on patient involvement at every level. We advocate ATS/ETS recommendations including the European Expert Recommendation for access to ATTD augmentation therapy and The Chapman clinical trial proving this therapy delays the progression of lung destruction for ATTD severely affected patients.

[Margs in reply to flo1]

If a patient is too unwell we would welcome their carer, family or close friend who helps them to attend on their behalf and report back to them after the event: alpha-1-alliance.org.uk/pol...

[Hidden]

I have Alpha-1 antitrypsin deficiency, an inherited condition that can cause emphysema, liver disease, and a variety of other ailments including necrotizing panniculitis. I have the most severe type, ZZ, which means that I inherited one allele from each of my parents. Alpha-1 antitrypsin, also known as Alpha-1 protease inhibitor, gets folded improperly in the liver, where it is made, and cannot leave the liver to circulate in the bloodstream to the lungs, where it is supposed to protect the lungs from damage due to inflammation (from respiratory illness, exposure to environmental toxins such as smoke, air pollution, toxic aerosolised chemicals). Although the UK seems not to have a lot of information available to people with Alpha-1, as it is informally called, there is a lot of useful information on the condition at the Alpha-1 Association (alpha1.org), an American organization. If you have Facebook, you might consider joining the Facebook group Alpha-1 Advocacy & Action Coalition, where you will find a community of other "Alphas" and you can ask anything about Alpha-1 and get information and support.

[Margs in reply to Hidden]

If you can make it to this meeting please do it is very important that as many as possible are there: alpha-1-alliance.org.uk/pol...

[SusanneH in reply to Margs]

Hi Margs,

Thanks for letting us know about this meeting but unfortunately it is too far for me to go specially on my own.I was diagnosed with COPD in 2004 and it was through my GP doing a blood test that i found out i have the Alpha-1.My Consultant barely acknowledged it and told me my problems were due to smoking.And it was just last week i saw a Genetic Councellor who told me i am a 'Carrier' and have inherited this from one parent.Thats all i know apart from it being incurable im afraid.

[Hidden in reply to SusanneH]

Carriers of Alpha-1 antitrypsin deficiency are actually very common in Europe and North America. It is estimated that 1 out of every 15 people is a "carrier". Carriers can be symptomatic, especially if they smoke. Smoking essentially counteracts the protective effect of Alpha-1 protease inhibitor (Alpha-1 antitrypsin). Although there is no cure yet for Alpha-1 antitrypsin deficiency, researchers around the world are looking for a cure. In the meantime, prevention of damage to liver and lungs are very important. Knowing that you are a carrier is the first step. Learning how to prevent further damage to your liver and lungs is something I hope you will do. Quitting smoking is very important, as is avoidance of air pollution. Best to you, Susanne.

[flo1]

Good and sound advice Reilly. The very first thing you must do is 'quit' this is very hard I had a 30 a day habit and I thought in all sincerity I would never be able to do it, I damaged myself further after nearly 3 years getting diagnosed I continued that and general lack of information out there in medical land, made it very hard for me to assess the true damage of what smoking does to alpha one patients. I finally did it after being given 2 years max left to live and getting a beautiful dog which to this day saved me from further harm, although its pretty bad in there with only my middle parts left on both lungs, I managed quite easily to quit with the help of e cigs ...still on them to this day and my fev doubled!! so they are harmless contary to belief, I can vouch for them. Nicotine is not harmful and that is what e cigs are pure and simple, but what they pack into a cig and the harmful chemicals destroy us very quickly...I hope agumentation therapy is available for alpha one patients here as we absolutley need it and it is so unjust and unfair for us to be denied it as there are so many Countries approving of it, these outweigh those denied it and this is sinful. Nice talking to you Reilly hope your about on here again.

[flo1]

I sincerely recommend the Royal Free in London the service is excellant with a full scan of the liver, x ray of the lungs and breathing tests plus bloods , it was second to none I attended Adapt many years with the full on breathing tests, unfortunately for me I need to develop a relationship with a Consultant this is paramount with a rare disease and I only ever meet Prof Stockley once, it seems this happens to many that attend there, so I left and I am very happy with the decision I made, I live in South West so most of them are too far but well worth the visit to Royal Free and best of all the C onsulant takes time out to call me back if I have any concerns ...can't do fairer than that.