Over the years, I found that getting an alpha1-antitrypsin deficiency (AATD) diagnosis was the easiest part of my treatment process. However, I only got tested because my brother learned about the condition in college and eventually tested positive for the deficiency (as did I because of his experience and my symptoms). Since this is a hereditary condition, several of us got tested.

I had no idea I had any kind of health condition growing up. I found physical activity more taxing than others but always blamed it on myself for not being more “in shape.” I later realized I had uncontrolled asthma due to AATD, so it wasn’t just me being lazy.

I improved lung function with exercise and diet somewhat. Yet I continued to have more problems in my throat and lungs and lost a lot of physical strength and stamina. I didn’t understand why, since I didn’t smoke or drink, two big no-no’s in AATD world. 

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I also finally realized it’s OK to not be completely financially independent. I now need so much more help because of needing infusions (which cost $1,000 weekly), so asking for help has become easier. I get infusions to help my lungs fight off invaders because that is the superpower (AAT) that most humans have plenty of but I do not.

Read more about the history of AATD

As I get older, I find that family is very helpful for me in getting through things. It is easy to feel like a burden sometimes. I am learning not to feel like that, but when my family also has heavy financial burdens themselves, it may be harder to ask for help from them.

One resource that may be helpful for those with AATD who need infusions (as well as Medicaid and disability) is the National Organization for Rare Disorders (NORD). Not only does this organization provide trustworthy info for patients with rare diseases, but I know many people who receive financial support in their fight for their life and it has been a godsend to them.

The program I am referring to is called the “Patient Assistance Program.” I have talked to many AATD patients who have been helped by the NORD program. It helps them be more courageous people.

At age 34, I also am fighting. Sadly, those of us with rare diseases have no choice but to fight for ourselves in a variety of ways. So, on Rare Disease Day, I say, “There’s hope for us who are struggling with rare conditions. We are not alone!”