I am among the few in my area who was diagnosed early with alpha-1 antitrypsin deficiency (AATD), and several in my family also got tested. My genotype is PiSZ and, as it turns out, I got the “S” part from my dad and the “Z” part from my mom, an MZ, so they are both a “carrier.” I often was sad for my mom. I can remember hearing her cough so much at times, I wanted to get her some help.
My mom is a “carrier,” which means she doesn’t actually have AATD, right? According to several with the MZ genotype I have spoken with, they have had a hard time managing their symptoms, too. My own mom can say she wakes up in the middle of the night and has to sit straight up to breathe, and my mom never smoked and was not even around it in her lifetime.
The last time she got her AATD levels checked, she had around 93 mg/dL in her system. If that is an average for her, it seems she probably hangs out at the low end of normal or right below it.
I grew up with asthma which presented as breathing issues when I physically exerted myself. My mom has something called “cough-induced asthma.” So when she coughs, she finds it difficult to breathe.
We both share the “Z” allele and although I am much worse off, needing infusions every week, it is hard to watch her suffer without a solution. I asked myself, what if this is a common thing for people who are MZ?
Read more about the history of AATD
I asked my support group who all are MZs and over 40 of them raised their hands. Most of them knew their genotype because they had breathing problems.
I am an empathetic person. That means when my mom coughs, I can feel what she feels and it hurts me. I wish there was a way “carriers” of AATD might be treated as well as those of us with a diagnosis have been. Maybe not as much as the PiZZ and PiSZ, but maybe on a more individual case basis.
I think it is interesting, being on the outside, knowing now why it was that my mom got so sick when she had a cough and why it disturbed me so much. I felt sick for her. I imagine this is something like what my family and friends feel when they watch me cough and struggle to breathe.
I am not suggesting anyone go out and assert the word “carrier” is a misnomer (though I know many who would say that it is), but I do think these people deserve some attention. Like my mom, they may find that their breathing problems are not so unexplainable.
I want to make sure asthma and breathing issues are managed well for my mom and that she is well-educated about AATD. It may be also advantageous for anyone with lung disease to have their AATD levels checked to make sure they are not at least someone with lower levels of the protein.
It is nice to know that my mom has a very low chance of getting lung disease. For me, I am coming to grips with the fact that I very well may have the beginnings of emphysema. My body has been through a lot of other things physically so I am not as strong as others.
That may be why I feel so strongly about this. I, like most people, desire fairness in the world. Fairness is not a guarantee. I think people like my mom deserve to know why they struggle with such a basic human ability as breathing.
Thankfully, my mom and I know about AATD. We don’t have to live in doubt, wondering if all of this will be believed by our doctors or if it is “all in my head” as some friends have communicated to me.
I hope many other people are diagnosed this year. I don’t want them to suffer, I just hope to educate the general public about it. My friends all know about this condition now and many of them have wondered if they should get tested.
Loving life can be a gift for anyone, the trick is finding it. For some of us, the time it takes to find it makes it that much better.