I have met a lot of patients with alpha-1 antitrypsin deficiency (AATD) and have heard a lot of stories. I also have AATD. It seems that when people have major diagnoses other than AATD, their symptoms are a lot worse and more complicated.
I’m not a doctor, by any means. But from what I have read from credible sources, such as the Mayo Clinic and the Alpha-1 Foundation, AATD symptoms are pretty black and white. Not everyone has them all, but they don’t deviate a whole lot.
However, I think it’s interesting that between patients, some of them with the worst protein levels can have no problems at all. And their sibling with the same genotype struggles to survive. What’s the difference there?
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By addressing the whole patient (believe me, the sooner, the better), the patient responds better. I know I do. It’s the reason one liver-affected patient couldn’t survive to his 15th birthday, but his sister, with the same genotype, had no problems.
Read more about how AATD is diagnosed
Some believe that patients with AATD who died just didn’t have the defense mechanisms to fight due to their other conditions. Their families didn’t even know about those other conditions, and they don’t even have a word(s) to describe them. In pulmonology research, I hear, there are a lot of question marks. I know there is a high amount of unpredictability that comes with the territory. These symptoms, however deadly they can be, are relatively few.
So, what some of the most experienced patients are starting to learn is, other medical conditions can make a patient more sick. If a person has multiple disorders unrelated to AATD, symptoms are often worse.
It’s true: everything in our bodies is connected. AATD can make a different preexisting skin condition worse if the right factors are present. It may be the answer to why some patients with AATD have certain symptoms and not others. I am one of those patients. I have multiple conditions and my body is very sensitive. Just the slightest issue with food or air quality can set the rest of my body into overdrive.
And people wonder why I am so passionate about this! In all seriousness, this issue really gets to me. If a person sits in front of you with multiple conditions, no matter how minor something new may seem, it could be very significant.
How significant it is depends on the person. The way each person is affected by AATD is so different, you may as well compare apples to oranges. It’s really so crazy.
Read more about AATD comorbidities
New shortness of breath or coughs are worth looking into. For a patient or doctor to brush it off could cost the patient dearly. Sometimes, new or extra symptoms are brushed off as “just” anxiety (which is a conversation for another column). This kind of behavior damages not only the patient-doctor relationship, but could also lead to patients not getting properly treated or worrying more.
If the patient isn’t physically sick, perhaps they need a treatment plan for anxiety, and it needs to have multiple aspects. It will help their breathing, too.
Taking on this kind of proactive attitude has helped my doctor and me. Patients talk to each other about this kind of thing all the time. The way we patients see doctors is largely through the lens of their bedside manner. Strange, but true. We don’t have their knowledge and we need them to communicate it to us in the best way possible.
I don’t like to talk negatively about doctors in public. I just think it’s rude and uncalled for, to be honest. The doctors we know deserve respect. In fact, I often try to defend doctors when this happens in my group. Or, if I have the chance, I refer to a different doctor. Oftentimes, patients misunderstand a doctor’s words, but a referral might still be needed.
Some of us don’t know how to trust doctors. That’s a major thing for us. It’s interesting that bedside manner and dismissal are about half of the topics of conversation in our groups. We have personal wounds in this area sometimes, so it’s a two-way street.
We can all do a little better, but we know that harmony makes things go more smoothly. When we are all on the same team, our teamwork will make the dream work. And that’s what we’re here for, right? With how little we really know about AATD, we all need to practice grace with one another. Extra listening for extra issues can be the catalyst for success.
