Tag Archives: liver

The genetic disorder many of us have and don’t know about.

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Thank you Elisabeth Sperling for this picture of me!

Alpha 1 Antitrypsin Deficiency is a genetic disorder that affects about 1 in 1,500 to 3,500 individuals from European ancestry. This disorder may cause lung disease and liver disease, with the first signs and symptoms of lung or liver disease showing up between ages 20 and 50. The problem this genetic deficiency causes is that it does not let the body produce enough enzyme to protect the lungs and liver against exposures to potentially hazardous pollutants.  So the less protected we are, the higher the chance of developing a problem.

Many individuals are undiagnosed until they develop a lung condition called chronic obstructive pulmonary disease (COPD) or liver disease. The problem is that people who don’t know they have this genetic disorder may get involved with unhealthy lifestyles such as smoking, drinking, living in polluted areas with bad air quality and hold hazardous occupations such as firefighting, car painting,or mining that can directly affect the severity and outcome of the disease.

That is why it’s good to know if you carry the genetic deficiency. If you’d like to get tested, do it through this awesome organization, Alpha-1 Foundation http://www.alpha1.org.

The test is free and confidential. It is provided through https://www.alpha1.org/Newly-Diagnosed/Learning-about-Alpha-1/Testing-for-Alpha-1 

I’ve started spreading the word about this genetic disorder. Here I am teaching a group about the details of Alpha 1 Antitrypsin Deficiency. I came to know about this genetic disorder when my son was diagnosed with it at 6 months of age. Thankfully he is only slightly deficient so we just have to make sure he makes smart decisions and leads a healthy lifestyle – no smoking, eats healthy, gets plenty of exercise and stays away from highly polluted areas and jobs that can increase risk of respiratory issues. I’ve been tested and also have the deficiency. Now I’m getting my family tested since this is a genetic issue that is passed on through family.