Tell Me About Your Phenotype

I was recently speaking with a good friend, and fellow Badassmatic, who was preparing for an upcoming specialist appointment. I have been enthusiastically cheering them on as they try to obtain their phenotype. This has been my stock answer whenever they ask me what to ask their specialist.

In general, the response to this question from their specialist is that they do not have the access to specialized testing, which I thought seemed a feasible response then, however, several years later I wonder why this is still the answer. I should preface this with the information that they have a great doctor/patient relationship and their specialist is wicked smart.

Biomarkers have come a long way and can be detected in blood and sputum. Collecting FeNo measurements has also become more common. This friend lives in a different part of the country and there is different access to specialized testing. This put in sharp focus how privileged I am to have local access to testing and a specialty clinic. I am hoping medical systems can do better to provide access to this testing for all patients.

Meaning of phenotype and endotype

A quick recap on what a phenotype is and what an endotype is:^1,2,3

• A phenotype is an observable characteristic.
• An endotype is defined by "underlying biological mechanisms."

Learning about my asthma

Several years ago, I was in a study that examined clusters or groups of asthmatics to better identify patients and develop treatments. I found this to be a very valuable experience. I really learned a lot about my asthma and the mechanisms that drive it. I found this important to just understand why I may, or may not have been responding to treatment and to get a better grip on my asthma diagnosis.

At this time in my asthma journey, I had a very different understanding of asthma, shall we say it was very much a "blue puffer' that will solve all things attitude". The reality is that asthma is very heterogeneous and so are asthma patients. It does not have to be all gloomy but it sure can be frustrating, especially when there are unknowns.

At the beginning of my asthma, there were many unknowns or different responses to medications that had clinicians stumped, and I felt lost. It was comforting to know that there were others that had similar experiences and that researchers are actively searching for answers and connections. Even in my group of asthma besties, everyone is a little bit different, they have different drivers of their asthma, some allergic components, some neutrophilic, some eosinophilic. We all have different spectrums of lung function, some rock stars, some decent, some not so great, but they make the most of every component of what they live with.

We also have unique treatment plans. I used to dream about what it would be like to be a different kind of asthmatic. The reality is I only know my experiences, and while it is similar to others, it is uniquely mine. Of course, I long for the rockstar lung function or to be the asthmatic that never needs oral steroids and while I have made many strides, I am just not all those things.

Does knowing your phenotype help you understand your asthma?

Have you ever longed to be a different kind of asthmatic? Are you aware of your phenotype/endotype and has it helped you to understand your asthma better? I would love to hear about your experiences.