Testing can save lives!
The recent death of our Alpha-1 friend Mario in Rome brought the alpha-1 problems back in full. It is not just statisticical figures over a genetic condition – it is friends who dies at an early age leaving their families behind. In Norway and most other countries health bureaucrats have decided that this disease need to be covered up under the COPD umbrella.
As a consequence there is no testing of babies for the alpha-1 antitrypsin deficiency. No special guidelines for those with alpha-1 antitrypsin deficiency that has been discovered later in life. They do it and have it for cystic fibroses – and they do it for many other conditions like Føllings disease. But in those conditions people die at a young age. With Alpha1 you seldom get the diagnose before it is too late! BECAUSE THEY DO NOT TEST!
No cure so why test?
“But there is no cure so why test? It will only get people worried, ” is an argument against testing presented by some patients and health personnel.
If you have alpha-1 antitrypsin deficiency you need treatment quickly if you get an airway infection, quicker than for an “ordinary” COPD patient to prevent unnecessary lung tissue destruction.
If you have very low levels of alfa-1 antitrypsin every inflammation will increase the need for alpha-1 and reduce the amount available to protect the lungs. Many alpha’s have comorbiditys like Ulcerous Colitis, Crohns, Asthma, diabetes type 2, Fibromyalgia – all caracterized by silent inflammation that can be measured by micro CRP (c-reactive protein)
Augmentation therapy is used in many countries. It is very expensive, since it is derived from human plasma. But since most people does not need this as part of a transfusion – nothing is taken away from others in need. It is not a cure, but neither is insulin for a person with diabetes type 1. It is unthinkable not to give them insulin, maybe because they would die in front of you if they did not get it. But is a slow death so much better? With alpha1 your lungs might get ruined very fast compared to “ordinary” COPD emphysema, but you will not die or go into coma within few hours.
It works in other countries
How come Norwegian and Scandinavian health bureaucrats have decided augmentation therapy does not work? Strangely the same therapy seem to work in other countries, slowing the lung destruction, increasing life quality and reducing the number of infections. The most creative answer to why UK does not have it came from Prof. Stockley: Because England did not provide augmentation therapy for their patients, “they could study the natural development of the disease…” What kind of ethic is this???
Is it because it might be your own fault since you have been smoking???? A question of morals? But how would you know you really should not smoke, or get a job as a farmer, or as a baker, or in a mine or in a gas station? Or not paint your own house/apartment? These workplaces will also slowly kill an alpha 1!
To be able to avoid the worst pollution and prolong your life you do in fact need to know if you have the defect gene! Why does a slow death in mature age seem to be accepted as “natural”? These people also have family and friends. What “cost” is involved in losing your father while still a child? Many alpha-1′s have built up lots of competence in their work fields. There are many costs that are never calculated into the total picture of alpha1.
Money money money…
Does all this make it acceptable to refuse treatment? Again authorities hide behind impersonal statistics and tell us it does not work. Probably because it cost a lot of money… We in Norway have money more than most, but Germany with less offer the therapy and have alpha-1 centres for every 1.8 million people. Norway has none! Poor Italy has guideelines for alpha-1 that includes the fact that it is a liver disease and not just a lungdisease. Norway has not!
50 years – and still no cure…
It is 50 years since alpha1 antitrypsin deficiency was discovered! 25 years ago augmentation therapy was made available. There is still no cure, but many patients have been able to live good lives with high life quality because of this therapy. Statistics only from studies are not good tools to decide if a treatment works or not. At least it should not be the only tool. Too many people have had to live lives with reduced life quality and an early death because of the so-called New Public Management which in its ugly consequence means health politics by calculator principles per bodypart.
Guidelines for COPD – not good enough!
The new Norwegian guidelines for COPD mentions alpha-1 antitrypsin deficiency with a few sentences. But this is not enough! We need real guidelines for the specific problems Alpha1 antitrypsin deficiency represent, not some quasi-guidelines for another set of problems even if they at glance looks similar. Especially since there are many comorbidities, and since it is in reality a liver-disease. The liver must also be monitored!
So much to do – and so little time for those already ill!
There is so much to do – and for those who are sick from this genetic condition, we need to get things done quickly. They have enough with their daily breathing, and does not have the energy needed to fight red tape procedures.
What if we look at this from another angle?
How come many with alpha-1 antitrypsin deficiency even with the PiZZ gene does not develop lung problems and apparently does not have any problems with their liver either??? Is the modern diet with too much omega6 fatty acids in combination with too much carbohydrates and sugar causing the need for more alpha 1 than the patient has available?
Is it stress from childhood/puberty? Other stressors later in life?
Too little vitamin D or other vitamins/minerals deficiencies?
Early testing a must!
Whichever way we toss and turn this – we end up with the following answer: To prevent the worst consequeces we need early testing and more research into life style factors – plus augmentation therapy for those who have already developed a lung problem! And fifty years should be sufficient to come up with some constructive guidelines. And if the concept of early prevention of illnes should have any meaning, we have to find a way to get people tested! One day there might be a cure – and then we need to find the alpha-1′s fast!
The challenge of detecting Alpha-1 Antitrypsin Deficiency
Read more on this subject in this article by James K. Stoller. Because it is an acute phase protein alpha-1 antitrypsin deficiency can go undiscovered for years if tests are not taken twice. An infection which produce more alpha 1 can sometimes cover up the deficiency. Many patients therefore can be misdiagnosed for years – the average being around nine years.
(You must register to informahealthcare to get acess to the article)
The above is my personal views as an AlphaTwo – married to an alphaOne. I want my husband around long enough to see grandchildren grow up and to enjoy all we want to do as a couple!