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email forum - by joining the group e-mail forum you will be in contact with Alpha patients, their families, carers and friends living throughout the UK and overseas. We are a friendly group, and between us we have a wealth of knowledge and experience to share. There is always someone to help with any worries or queries you might have.

Frequently Asked Questions

If my body doesn't make AAT can't I be given a pill to replace it?

Unfortunately not, for nearly 20 years in the US, AAT has been replaced by a weekly IV infusion of AAT that has been collected from human blood donations.This is an extremely expensive "treatment" that costs up to 100,000 USD a year per patient. Trials in the UK are on-going but to date replacement AAT therapy is not licensed or available to treat lung affected Alpha patients.

I've just been diagnosed with A1AD related COPD, I'm frightened, how can I know how long I have left?

This is an understandable question and one we hear frequently. It's not possible to give the sort of answer that most people would like but there are some factors that might be helpful in re-assuring you. If you are diagnosed early and have good lung function you should be good for many years if you look after yourself.

Sometimes I get so short of breath that I feel frightened that I'm going to die!

Getting short of breath (SOB) can be very frightening indeed. However, unless you also have heart problems it is unlikely to cause any lasting damage, even if it feels like you are going to keel over.

Usually we develop strategies that tend to avoid the triggers for attacks of breathlessness. Most people with COPD have difficulty bending over to do things like, cleaning the bath. The difficulty is caused by the oversized lungs squashing down on the diaphragm. So, you find another way of doing things or, get someone else to do them! Many people find that it helps to stand leaning slightly forward, resting elbows on a surface like a windowsill, or banister rail.

We all know that it helps to breathe through pursed lips when being SOB as this helps to produce a back pressure that tends to keep the airways open.However, all this is well and good but we all have moments where we lose control of a situation and end up with a serious "oxygen debt".

Here's another tip: Try not to blow out to hard, even though your body is saying blow, blow, blow. If you blow out too much carbon dioxide it'll make you feel incredibly panicky, making you want to breathe in harder.Try to be calm and know that this will pass and you will be back to your "normal", within a few minutes.

Will Oxygen help me live longer?

Yes it will, if it's decided that you need it. The criteria for providing long term oxygen therapy is quite complicated and requires that blood gasses are analysed. If it is decided that you need O2 then the company that has the contract for your area will work with the assessment team to establish your needs. Normally O2 therapy is for a minimum of 16 hours a day and is usually advised at night.

Is there anything I can do to help me preserve my lungs?

Well we know we should not smoke and that we should avoid infection. Try and be as healthy as you can and take exercise.

Should my family have the blood test for Alpha-1?

A difficult one, it is generally recommended that parents are the first to be tested within the family unit. As is usually the case this shows one parent to be normal (PiMM) resulting in the knowledge that any offspring would only be "carriers". However, it remains unclear what will happen in the future regarding insurance etc. Being a carrier is not thought to cause any problems without other risk factors. Insurance companies already ask about smoking and other serious illness so it isn't thought to be a serious problem. However if there is any real concern that offspring may be PiZZ then it would be advantageous to find out. Remember having A1AD only predisposes toward COPD. Only a minority of lifetime non-smokers can expect real problems early in life.

I've heard that genetic disorders can "skip" a generation?

This is not so. You either have the faulty genes or you don't. In some "dominant" diseases like haemophilia the mutation can spontaneously occur at conception so that there is no previous family history of the disorder. This cannot occur with disorders like Alpha-1. But in societies that are very interbred there can be a high incidence of carriers coming together. A disorder that affects South Asians and some Arabs is Thalassemia. The frequency of this disorder is made higher by the common practice of cousins marrying. This no longer occurs in our society so the risks of coming across another "carrier" is quite high, probably somewhere between 1:25 and 1:40 depending on where you live in the UK. Scotland, Ireland and the north of England are likely to have higher rates than the west country.

I've had Pulmonary Function Tests but I don't know what they mean?

Full pulmonary function tests (PFT's) are carried out by specialist centres sometimes within large general hospitals but more often or not in cardio-thoracic centres like The Royal Brompton or Papworth hospitals.

The tests consist of blowing into machines that are connected to computer systems. The main tests measure how quickly you can blow air out of your lungs, how much air is being trapped in your lungs and how well the exchange of gasses is taking place within the lungs. Before the tests are carried out patients will be measured and their height, age and sex entered into the computer. Tables exist that allow the computer to compare the test results to a stored set of "'predicted values" that are based on age, sex, height and "ethnicity".

FEV1

This stands for Forced Expiratory Volume in 1 second. This measures how much air you can blow out in one second and the units are in litres/second. FEV1 is useful because although it is a pretty blunt instrument, it does give a generally good idea of how "obstructed" a patients airways are. The results are often also presented alongside the "percentage of predicted value".

FVC

Forced Vital Capacity. During this test the patient takes a deep breath and blows, and blows, and blows... This tess measures just how large your lungs are. Most COPD patients will have hyper-inflated lungs that trap air. The ratio of FEV1 and FVC is another useful guide to enable changes to be noted.

DLCO

This is Diffusion Testing and measures the ability of the lungs to allow Oxygen in and Carbon Dioxide out. Typically a very small amount of carbon monoxide is inhaled through the machine and, after holding your breath, is exhaled via the machine into a "bag". The machine then is able to calculate the amount of the gas exhaled giving a measure of the lungs ability to exchange gas.

The Box

You are placed in a plastic box which is sealed against atmospheric changes. You are told to breathe through a mouthpiece and after a warning a shutter drops. Several tests are carried out by this unit amongst them the ability of the lung to "recoil" and also more accurate measurements of lung volume and lung capacity.

Spirometry

This is a more simple test that is often carried out in GP's surgeries or by nurses. You blow into a mouthpiece and it records FEV1 and FVC. It has been shown that someone who is prone to COPD will be showing signs of obstructed airways in their late twenties. What a strong incentive to quit smoking it would be to be shown the graphs in your GP's surgery.

 
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