Identity, Illness, and the In-Between
On this Rare Disease Day, I want to talk about something that doesn’t show up in lab results, imaging scans, or operative notes.
Identity.
It’s a nuanced part of the rare disease journey, often invisible to those on the outside, but deeply personal to those who live it.
This is my story. It may or may not resonate with every rare disease patient, but if it helps even one person feel less alone in the identity shifts, it’s worth sharing.
Before the diagnosis: "Just Jess"
The journey to a diagnosis is rarely linear. It’s winding, exhausting, and often lonely.
Before my diagnosis, my identity was built around being capable, high-achieving, energetic, optimistic. I was the “always happy” one. The one juggling career, goals, relationships, and impact.
Then the symptoms began to compile.
Crippling anxiety.
Physical changes I couldn’t explain.
A body that no longer felt like my own.
As the symptoms progressed, my identity started shifting in ways I didn’t consciously choose. I went from being “the strong one” to being the anxious one. From dependable to barely holding it together. From self-assured to questioning everything.
When your body begins to change in ways you don’t understand, your sense of self can start to erode alongside it.
And when doctors dismiss you, when tests come back “normal,” when you’re told you don’t fit the “typical phenotype,” you begin to question not just your health, but your reality.
After six years of searching, countless tests, and many providers, I diagnosed myself with Cushing’s disease. I had very clear symptoms, yet I was still told I didn’t look like the “typical” patient.
There’s something profoundly destabilizing about knowing something is wrong and being told it isn’t.
The Diagnosis: From “Just Jess” to “Jess with Cushing’s”
When I finally received the diagnosis, it was both validating and destabilizing.
Because I studied this.
I understood the value of a diagnosis.
I knew what it meant to finally have an answer.
But suddenly, I wasn’t just Jess anymore.
I was “Jess who has Cushing’s disease.”
And while the diagnosis brought clarity, it also brought a new identity, one I didn’t fully know how to carry.
For about six months, I inhabited the identity of a rare disease patient in a very tangible way. I reckoned with it. I felt it. I empathized in a new way with the countless patients and families I had worked alongside in my career.
I had Cushing’s.
I was a rare disease patient.
That identity became front and center.
After Surgery: The Identity Vacuum
Then I had surgery.
And my symptoms were gone.
For so long, I had been searching. Fighting. Advocating. Proving. Testing. Questioning.
And then there was relief. Healing. A body that began to feel like mine again.
But here’s the part people don’t talk about enough...
When the symptoms disappear, the diagnosis remains, but your daily lived experience changes. And suddenly you’re left asking,
Who am I now?
Part of me still wants to associate with Cushing’s. It shaped me. It refined me. It taught me resilience and empathy in a way textbooks never could.
But I also feel imposter syndrome.
Do I still “count”?
Am I still a rare disease patient if I’m symptom-free?
Do I get to stand alongside my friends who are still fighting?
And layered into that is survivor’s guilt. Because many of my friends are still struggling. Still searching. Still battling for answers.
My journey went from searching, to diagnosis, to surgery, to symptom-free.
But identity doesn’t reset as cleanly as a lab value.
The Silent Identity Struggle
Identity shapes how we perceive ourselves in the world.
Before diagnosis, I was searching.
With diagnosis, I was a patient.
After surgery, I was something in between.
We as humans don’t have just one identity. We have many. Career-driven. Caregiver. Advocate. Patient. Survivor. Friend. Partner. Leader. Daughter. Mom.
The rare disease journey simply forces certain identities to the forefront, sometimes against our will.
And when those identities shift, it can feel disorienting.
What I’ve come to realize is this...
I am not only the diagnosis.
I am not only the survivor.
I am not only the advocate.
I am not only “just Jess.”
I am all of it.
The searching.
The diagnosed.
The healed.
The questioning.
The empathetic.
The evolving.
Embracing the Multiplicity
If you’re in the thick of searching, your identity might feel consumed by symptoms.
If you’ve just received a diagnosis, you might feel bound by a label that both validates and confines.
If you’re post-treatment, you might feel strangely untethered.
All of it is valid.
Identity in rare disease is fluid. It shifts as your body shifts. As your health shifts. As your life shifts...
You are allowed to evolve.
You are allowed to hold multiple identities at once.
You are allowed to grieve the version of you that existed before.
You are allowed to embrace the strength forged in the process.
On this Rare Disease Day, I want to name the quiet identity shifts that so many of us experience but rarely articulate.
You are more than your diagnosis.
And you are not alone in the in-between.