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Alpha-1 antitrypsin deficiency (AATD) can look different at different times in a person’s life. For instance, not every child has symptoms, while some only have symptoms during childhood, so it would make sense to know what the warning signs of AATD look like. And by identifying the age, it might be easier to see if the patient’s symptoms might be a result of AATD.

If a child has AATD, chances are that their symptoms are going to be overlooked. I felt that I was simply out of shape, so I never complained about my symptoms to my mom or my doctor, or anyone else, for that matter. What I didn’t think about was why I was experiencing problems when everyone else in my age group did the exact same thing every day that I did. 

Why was I different? Often, AATD presents in children as an asthmatic type of issue, affecting a child’s ability to physically exert themselves for long periods of time. I didn’t necessarily see it at first, but I can absolutely see it now, and how this has gotten worse since.

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Read more about the differential diagnosis of AATD

Infants are also hard to diagnose, at times, because they tend to be the most often affected in the liver, the first symptom being jaundice. As a nutritionist in a health department office, I was trained to see jaundice as something of little concern in babies. Now I can see jaundice that doesn’t go away means this infant may be going through more than meets the eye.

That’s pretty important. Fortunately, I did not get a diagnosis this early because my liver didn’t have problems. I had a brother who knew a lot about AATD and discovered he had it, and then I followed suit.

But there are many infants born with issues that can change the course of their lives forever, so it remains something that perhaps needs more attention than it is currently getting. Maybe there is a solution out there. Unfortunately, for now, it’s just a game of wait-and-see for most parents.

So what happens when an asymptomatic child with AATD grows up? Depending on their genes, they may be at low risk of anything happening to them. 

For those of us whose lungs are affected by AATD, changes in a person’s condition come after the person’s 20s. This was what happened in my story. Everyone has a different symptom list, mine was there most of my life but my lung function decline was a different story. 

I didn’t smoke, nor was I exposed to it secondhand. I simply developed symptoms. I did have lots of chest infections, so if that’s a symptom, I had it. I guess my 30s with AATD can be summed up in one word: “adventure.”

AATD doesn’t decide who it affects based on whether a person is a carrier of the condition or not. Some of the carriers I know have a very hard time. As the person gets older, near the 60-year mark, they may have developed chronic obstructive pulmonary disease (COPD), especially if they smoked.

My doctor is already suspicious I may have emphysema even though I haven’t smoked because my lungs declined more than normal over what seemed to be about a year. I have 2 abnormal alleles in my phenotype, as I have described in previous articles. I qualify for augmentation therapy, which I utilize.

I don’t hear of many receiving oxygen at my age with AATD, but I wouldn’t doubt there are some who do. I will say that with the way my oxygen levels seem to tank while I exercise, I do wonder if it might help in the not-too-distant future.

Right now my limitations are mainly that exercise causes so much of a problem, I can only do it for maybe 15 minutes, or maybe longer if I break it up into 10-minute increments. And I am very tired, so I have a hard time standing up for long periods, especially at work. I have thought about disability but it’s almost like I want to prove to myself I actually need it.

I am starting a new job soon. Hopefully, I can work this office job full-time, but if I can’t, I know I have people around to support me. I can add “scary” to the “adventure” title I used or I can add “fun,” to it. I prefer the latter and may write about the office job in a later piece.