As a child, I was very active. But from time to time, I was more breathless and red-faced than others in my age group. I laughed it off, saying, “I need to get in shape.” However, it became increasingly apparent during my college years that I had a harder time with physical education classes than others, and I had numerous throat and chest infections. Although I trained with friends to complete a 5K race, my intense need for oxygen became a priority.
After I graduated college, my younger brother, who was just beginning his college education, learned about alpha-1 antitrypsin deficiency (AATD) from a classmate. As it turned out, he had it. In his case, it manifested as exercise-induced asthma.
I learned that AATD occurs when a person has 2 deficient Pi alleles. This causes either too few or improperly formed antitrypsins that accumulate in the liver; they not only affect the liver, but the lack of circulation deprives the lungs of protection.
According to the Mayo Clinic, harmful neutrophil elastases can run rampant in the lungs because of this. There is not enough antitrypsin to keep them in check. These elastases normally only kill bacteria and viruses. For someone with AATD, they can destroy much more.
Read more about Alpha 1 antitrypsin deficiency
Some of the most common deficiency alleles are PiZZ, which causes a higher risk for chronic obstructive pulmonary disease (COPD), emphysema, liver disease, and the less severe PiZZ and the normal alleles are identified as PiMM. There are different blends of these. Mayo also states the alleles are inherited from both parents, in a codominant manner. The condition is more common than previously thought.
My mom was more aware of the health issues I had developed than I was. She encouraged me to get tested for AATD after my brother was diagnosed. I got the test results by breathing into a strange-looking oxygen machine for a good 20 minutes.
The doctor discussed with me my uncontrolled asthma. He was amazed at the difference between the machine-made oxygen and my breathing, as was I. Not too long after that, I received the AATD diagnosis by a Pulmonologist via a blood test.
I began having yearly pulmonary function tests (PFTs) that ultimately helped me understand what my baseline numbers were indicating. I am grateful for healthcare professionals in my life who kept an eye out for problems and asked lots of questions.
Despite getting vaccines and staying away from smoke and COVID-19 exposure, I somehow ended up with a mysterious decline in my lung function in early 2021 due to lung damage that I can only guess came from common irritants. These could have been dust or cleaning chemicals, perhaps even the common cold, my doctor said. I have to credit my pulmonologist with knowing enough to spot the problem before it developed into something like emphysema.
There is currently no known cure for AATD. There is, however, a lot one can do to help slow the progression of the disease or prevent it from happening.
My pulmonologist recommended I start infusions, which is the intravenous injection of AAT (extracted from healthy human plasma). He explained the importance of being consistent with the therapy, too, and patiently shared how inconsistency in therapy could lead to a lung transplant.
That brought it home. I began to realize the lung damage that could develop into lung disease if I didn’t take action to provide my body with the protein it needed.
So here I am, at age 34, with the less severe form of AATD, SZ. I don’t smoke or drink, and I have a healthy diet. With that, I cannot walk/run more than 20 minutes a day anymore.
There are few things quite as nice as having the quality of life to do what I love the most. Thankfully, I still have lots of time to do just that.
Some people don’t have this luxury. Right now I am faithful to exercise and eat healthily, and expected to start infusions this year.