It was just like any other dense summer evening in late August in Maine, hot and humid. As I pulled into the driveway, the weight of every pound of flesh on me felt doubled. The air was so thick that breathing became a voluntary, forceful function. Leaving everything behind—lunchbox, purse, computer—I proceeded into the apartment. The air conditioning was running, but sweat was still pouring from my brow. 

Fatigue has a funny way of squeezing the diaphragm tightly without notice. This was not an unfamiliar sensation. And after minutes became an hour, my breath had caught up to my lungs. Sweat continued to pour. Stretching my arms toward the floor to remove my shoes, I felt a fatigue that could no longer be ignored. 

Unknowingly, those shoes walked their last steps, and I took the first step on my systemic mastocytosis (SM) journey. It was time to seek medical intervention.

Shortly thereafter came insomnia, diarrhea/constipation, vomiting, confusion, dizziness, tachycardia, hypertension, flushing, profuse sweating, blurry or double vision, and pain. Next, was the numbness and tingling of my limbs accompanied by feeling dizzy and faint.

Read about experimental therapies for SM

Certain symptoms present as a group and others trigger one another, such as hypertension and then tachycardia. These symptoms could be present all the time or appear to be episodic lasting for hours at a time. Without warning these episodes could crash over me like a riptide.

It became clear that my career and life as I knew it would be coming to a screeching halt.

Generally speaking, this was a lot to process for my provider. He began with a full panel as well as a workup for tick-borne illnesses. While awaiting the results, I had a trip to express care where I was instructed to immediately get emergency attention. This was due to abdominal pain and tremulousness combined with hypertension, tachycardia, vomiting, and double vision. A computed tomography (CT) scan and more labs were performed.

All labs, including those from my provider, had come back “unremarkable.” The obvious diagnoses, autoimmune and Lyme disease having been ruled out, my provider assumed a position of panic disorder. Although I have post-traumatic stress disorder (PSTD), this was no panic attack. Before being placed on medication or paired with the onsite counselor, I demanded a full neuropsychological evaluation. The neuropsychologist stated that panic disorder was not the appropriate diagnosis. 

In like manner, the months leading up to February of this year were a continuation of shots in the dark. After panic disorder, my provider moved to postural orthostatic tachycardia syndrome (POTS), pheochromocytoma, cyclical vomiting syndrome, and small fiber neuropathy as other possible factors. 

As deliberation continued to determine what has been plaguing me, the symptoms are becoming debilitating. I have become a human pincushion. To make matters worse, specialists are turning me away, not sharing pertinent information, such as precancerous findings from biopsies; not following up after diagnostic testing; invalidating that I am unwell at all, and stating more testing will be ordered. 

Finally, after a 10-minute telehealth call with a neurologist from Brigham and Women’s Faulkner Hospital in Boston, Massachusetts, some progress was made. He ordered several tests and my results did come back consistent for SM. Unfortunately, the waitlist for specialized clinics to receive the appropriate care is 9 months out.

I have become the specialist, carrying packets of information to educate my care team, as some could not even spell mastocytosis.

Ultimately, the journey for all who are battling a rare disease is uphill. After 9  misdiagnoses, 50 diagnostic tests, and 15 specialists, there is still a long road ahead. Due to the difficulties previously mentioned with healthcare professionals, I have learned that self-advocacy, bravery, and positivity are the keys to success.