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I’ve just been diagnosed with Alpha-1 Antitrypsin Deficiency. Now what?

7 Tips from Alphas who’ve been there…

1 Don’t panic.

Being diagnosed with something new like this can be scary and overwhelming. If you’re like most people, you hopped on the internet and Googled Alpha-1 only to be faced with articles full of worst case scenarios. Lung transplants… liver disease… emphysema…

Those things can happen, but remember that everyone is different… we all have different genes that interact, different lifestyles, different lives! Always remember that you can’t compare yourself to anyone else.

2 Find out your antitrypsin level and phenotype.

When you were first tested for Alpha-1, your doctor would have taken a blood sample and tested it to determine how much antitrypsin is in your blood. In order to determine that you were deficient, the result would have been below normal. Even more important, your phenotype or genotype (e.g. ZZ, MZ, MS, etc.) will tell you which alleles you have and how they behave. Knowing this is important because it gives you a general idea of how at risk you are.

3 If you have symptoms, get tested and get those treated.

Many Alphas only find out they’re part of our exclusive club when they start seeing symptoms. Getting your Alpha-1 diagnosis is important to explain those symptoms, but the symptoms themselves will be treated the same regardless of how they happened. So whether you have emphysema because you smoked or because you have Alpha-1, it will be the emphysema your doctor will treat, not the Alpha-1 itself. If you’re having trouble breathing or problems with recurrent lung infections, you’ll want to see a lung specialist (pulmonologist or a respirologist). If you are having issues with your liver, if your family doctor can’t handle things, you would want to be referred to a liver specialist (hepatologist).

4 Find out if you qualify for augmentation therapy.

This is the one treatment for Alpha-1 itself and is only recommended if you have a severely low antitrypsin level. Augmentation therapy is where they take antitrypsin from the blood plasma of healthy human donors to increase the alpha-1 levels circulating in the blood and lungs of Alphas diagnosed with emphysema. The therapy is administered by a weekly IV infusion and, until other therapies become available, is considered ongoing and lifelong. It does not help the liver and is not recommended for carriers.

Unfortunately, it’s also only available in certain countries right now. There are several brands available in the US. Prolastin is available in Canada, but only to certain provinces. And it is not available in the UK or Australia at all though both are pushing to get it.

5 Get vaccinated.

syringeVaccines can help prevent certain serious illnesses. This is even truer for Alphas whose lungs are more vulnerable to pollutants and infections. It is important to get a flu shot every year and pneumonia shot at the recommended intervals. Also, since hepatitis can increase the risk or severity of liver disease in Alphas, hepatitis A and B vaccines are also recommended.

6 Become an Alpha-1 expert.

A lot of staying healthy will be up to you. Protecting yourself from things that might hurt your lungs or liver… Taking steps not to pick up viruses or infections… Exercising to keep yourself healthy… Working in partnership with your doctor to make sure you’re getting the care you need… and knowing as much as you can about Alpha-1 is key to all of that.

We suggest starting a binder to store all of your Alpha-1 health information. Ask for copies of your test results, and go over them yourself to make sure what you’re seeing lines up with what your doctor is telling you.

7 Tell your family.

Alpha-1 is genetic. This means you inherited your deficient genes from your parents and might pass those genes on to your children. If you are an Alpha, your siblings are most at risk of also being Alphas. You need to let your family know that they could also be affected.

Your relatives may also have one or two Alpha-1 genes and not be aware of their own health risks. If they learn they have Alpha-1, they can choose healthier lifestyles, careers or make better decisions to keep or improve their health.