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In the era of modern medicine, there are still many of us who fall through the cracks. Those suffering from systemic mastocytosis (SM) are no strangers to this truth. This may be related to the rarity of our affliction. However, it can be said that failure to fully understand this ailment may play a key role in the lack of adequate care provided to patients. As a result, a lack of interest, and even disbelief, is a frequent narrative in medical specialty offices.

SM is a rare genetic mutation that causes an overproduction of mast cells. These cells are a type of white blood cell responsible for allergic and inflammatory responses in the body when a foreign invader has been detected. These cells can build up in organs and wreak havoc on the body systems. As these systems become compromised, other symptoms begin to present. These symptoms range in severity from flushing and profuse sweating to syncope and death.

With the extensive pain and fear that accompanies these symptoms, many who have SM live very limited lifestyles even before they have received a confirmed diagnosis. While awaiting numerous tests, a patient must undergo several other exploratory diagnostic procedures to rule out obvious, more common ailments. During this timeframe, many are forced to live in solitude with changes to diet, career, lifestyle, family outings, etc. This is to manage symptoms that are unexplained and often extremely uncomfortable at the very least. 

When a patient arrives at an allergist, for example, they may not be expressing a full-blown SM reaction due to the fact that this is the first time they have been out of their home since their last medical appointment. In my experience, this is often the case. 

Read more about the diagnosis of SM

On several occasions, after receiving a confirmed diagnosis, I have needed to “prove” myself in the office of a specialist. This has wasted valuable time by having me recap a full journey of my medical rundown and explain how I am “qualified” to have SM, as well as who diagnosed me, when, and what their title is.

Due to a lack of training and knowledge, I have needed to bring packets of information with me to any urgent care rooms when I am having an allergic reaction that I cannot remedy with rescue medications. I often need to spell mastocytosis for medical staff to ensure the correct documentation. A specialist told me: “You just need to learn how to cope. It can’t really be that bad.”

For many of us, generally speaking, positivity is a way to cope with life as a whole. Those with invisible diseases are no different than anyone else. But we must work even harder to plaster on a smile and walk out the front door knowing each step is further from safety. 

The need for physicians and specialists to become active listeners and informed about SM will not only improve their practice but the quality of life for the patients they serve.