Before my alpha-1 antitrypsin deficiency (AATD) diagnosis, I spent my entire adult life trying to be healthy. Even though I struggled with asthma, I was able to run a 5k in 40 minutes after months of training. In college, I discovered being healthy was a lot more fun than being unhealthy.
I learned how to eat and how to develop self-discipline in different areas. While those were all well and good, nothing prepared me for what was my greatest fear: finding out I had a rare, unpredictable health condition that could end in death.
When I came face to face with the condition, questions began to haunt me. My questions were, “What will I do if my lung function randomly declines?” and “How will I pay for treatment if I should need it?”
Some say a person’s greatest fear usually becomes a reality in their life. I can tell you I experienced this phenomenon. I struggled with the “what ifs,” so I became my own advocate and I talked to lots of people and asked tons of questions.
My initial panic both to learning I had this deficiency and then later when my lung function started rapidly declining became less of an issue as I spoke to my doctor. He listened well. And I found support in other places, too, including a support group.
For a time I ended up needing medication that helped with anxiety, not just because of AATD, but because of other unrelated issues. I found a counselor who was able to guide me in the big, harder areas of life.
Ultimately, it was probably my doctor’s office that helped the most. My Pulmonologist, Dr. M, was very knowledgeable, concerned, and honest about my case. He had studied my chart before walking into the room. It was as if he felt he was going to come before a court and needed to get the details right in my case.
He always had a way of making people feel comfortable in his presence. What a great quality to have in a doctor, especially a pulmonologist. He made me feel that if I had any questions or concerns, he was available and more than happy to respond with an educated answer.
When I questioned whether or not I needed the expensive therapy he was recommending, he responded with a story about a woman who tried therapy here and there. He carefully explained that eventually, the woman needed a lung transplant.
It was like he was saying, “Is doing nothing a risk you really want to take?” I, of course, knowing I wanted a lung transplant about as much as I wanted to be struck by lightning, felt right away what I wanted to do. I agreed it was not a risk I needed to take, the rate I was losing lung function.
My doctor also said quite honestly that he didn’t know when I asked about a certain issue I was having and referred me to someone who would know the answer. I always appreciated the way he dealt with my questions.
He wasn’t afraid to do tests, either, not too many and not too few. I always felt he had my best interests at heart.
The person who did my pulmonary function tests told me once I would likely develop some sort of lung disease. I wasn’t sure why she said that but I later learned my genes are the type that signals a higher/moderate level of risk of lung disease.
My doctor never played games with me. He left the responsibility of choosing a level of healthcare in my hands. While I felt a bit overwhelmed a few times, I eventually found answers to my questions and what the test results meant. I also learned it’s impossible to know some answers.
I still have unanswered questions, but I am thankful for the humans and support systems in my life. And though my condition is less than favorable, I can be grateful. Not everyone is so lucky. And nothing is better than knowing I am not alone.