Indolent Systemic Mastocytosis: Understanding the Symptoms and Diagnostic Journey

Around 2019, I started to notice some increased fatigue.

I'd lived with joint pain since I was in high school, but it would be intermittent, and this was constant, and I couldn't make it go away.

But from there, symptoms escalated.

And then the real issue became my GI symptoms, extreme pain after eating.

So I finally went to the doctor [laughs] and I was like, "I don't know that it's normal to be laying on the floor crying because my stomach hurts so much."

Her doctor began ruling out the usual suspects: lupus, MS, thyroid disease.

What turned up instead was something far less familiar.

A CT scan flagged severe changes in her hips, and then, not in a phone call from her doctor, but in an app notification, came a word Candice had never seen before.

And there was this word, systemic mastocytosis, that I had never heard of.

And so when you get that, of course your first reaction is to Google [laughs] things, and the first thing that pops up is survival rate, and it was five to seven years.

Of course, I was panicked.

That was a really terrifying thing to see.

Indolent systemic mastocytosis, or ISM, is a rare immune disorder in which abnormal mast cells, the body's own frontline defenders, multiply out of control and accumulate in organs like the skin, bone marrow, and gut.

It can look like dozens of other conditions, which is part of why it often goes undiagnosed.

It's missed for years, and sometimes decades, because we're looking at these tiny little pieces of the body instead of the person as a whole.

For Candice, building the right medical team took months.

Eventually, she found a hematologist who not only recognized the disease, but knew about a newly approved targeted therapy she qualified for.

Slowly, a clearer picture emerged.

In general, I describe it as an allergic disease, but it's also a chronic cancer.

But the thing that I really focus on is that I can live with the disease, and it is unlikely I will die from it.

That distinction between living with and dying from turns out to be one of the most important things a patient with ISM can learn.

But getting there requires something most patients don't have at the start: a diagnosis, a team, and a community that understands what they're going through.

Being able to go somewhere where I'm fully understood is like a big weight lifted off your shoulders.