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When I hear about others getting their rare disease medication or therapy denied by their insurance company, I feel a lot of empathy. I occasionally hear about insurance denials from people I know with alpha-1 antitrypsin deficiency (AATD). When I heard I got denied infusions after having them for over a year, I didn’t know what hit me.

I learned I had AATD when I was in college, at around 25 years old. I had struggled with breathing but didn’t know I was asthmatic until then. I looked into it because my brother got a diagnosis. It turns out we both have AATD and the same PiSZ genotype. This genotype is commonly associated with moderate-to-high lung disease risk.

I didn’t realize there was anything significantly different about me except being out of shape. And although I didn’t smoke, I was around campfires and chemicals, like any other child. I got several different infections that affected my lungs and throat.

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Read about the diagnosis of AATD

When I was about 32 years old, I complained to my pulmonologist about just not feeling good, and after looking at my pulmonary function tests (PFT) on 2 separate occasions, he started infusion therapy. My lung function was abnormal for my age, the doctor said, and he could see damage to my lungs in the preceding computed tomography (CT) scan.

I have been on infusions for over a year, and they have made a huge difference in how I can get around and how many breathing issues I have. I have been grateful to have received them, covered by Medicaid up to now.

There are other benefits of infusion or augmentation therapy. It can slow down the progress of emphysema with AATD. The doctor believes I have this, so the therapy could extend my life and quality of life. But my insurance company changed when I started a new job. For the first time in 3 years, I have private insurance. I hadn’t been able to afford it before because I couldn’t work enough due to my physical condition. The cost is over $1000 each month.

Yet, now that I am able to contribute to the economy, I can no longer receive them. I’m working with the pharmacy and my doctor to find a solution right now. There was a time when I didn’t think infusions were necessary and refused to believe I had emphysema. That’s not how I feel anymore, and I have seen the incredible difference the medicine has made in my life. It’s invaluable to me.

Just today, I read a denial letter stating that the reason I am not able to get infusions is that I am not of the genotype PiZZ. From what I understand, I meet the other criteria for having lung disease and poor PFT test results, etc. But my genotype is just not the right one for treatment in their eyes.

Now, I can understand being told I am not deficient enough in alpha-1 antitrypsin. But, there are many other genotypes that fall under the AATD umbrella that are generally at a higher risk than me but who are not PiZZ. There are some genotypes that don’t produce any alpha-1 antitrypsin at all that wouldn’t be eligible.

So, because I am not the most common form of AATD, I cannot receive one of the most essential treatments out there for me. Further complications and death could come sooner than expected. My numbers were falling fast before the infusions, anyway.

It wasn’t the best news I wanted to hear, but I am not one to go down without a fight. It doesn’t seem right that I am punished for working a full-time job versus a part-time one. My doctor, my appeals team, and I will be working on it. I have been without infusions for a month now, and it hasn’t been easy. I’m trying to reduce exposure to viruses and bacteria, taking my vitamins and using my inhalers.

I have come to realize that even if this insurance company doesn’t work out, there are others. And one day, after a lot of fighting, we’ll see the light at the end of the tunnel. Now I know how it feels to have such an important claim denied, so I can help others fight for their cause, too.