Rare Disease Day
On November 14th, 1993, my life changed forever.
I had recently had a rough case of strep throat. While I had recovered, I was lethargic and low energy - something everyone thought was weird, given how energetic and bubbly I usually was. It wasn't until this day, when a warm, bright pink rash that looked like an oil burn began to pop up on my body that we realized there was something wrong.
I received a host of misdiagnoses. The final one was leukemia. This did not match my symptoms well, but my providers were grasping at straws. I was given 6 weeks "at most" to live and encouraged to start intense chemotherapy to give me a chance at even a few extra weeks. My family spent the next spring and summer in the Knight Library at the University of Oregon searching medical textbooks for something that better matched my symptoms.
I was diagnosed with my first rare disease after we collected evidence in the form of photos, videos, and diagrams. Systemic Juvenile Idiopathic Arthritis (SJIA or Still's Disease) is an autoinflammatory disease, meaning there's something wrong with my innate immune system that causes my body to attack itself.
My mother assumed that she could treat me better than doctors, since she had discovered the potentially fatal culprit. I did not see any medical providers from the age of 7 until I was a senior in college at age 21.
In the last 13 years, I have been diagnosed with a handful of other conditions. Some of these are also rare, such as Mast Cell Activation Syndrome (MCAS) and Hypermobile Ehlers-Danlos Syndrome (hEDS). It's important to note that both these conditions are underdiagnosed and undertreated, meaning that we don't truly know the prevalence. It's likely they are far more common than rare but have not been approached or studied with equity in mind. It is much harder, for instance, for Black folks to be diagnosed with these conditions - despite the fact that they are affected at a similar rate.
Why am I sharing all of this?
THIS is how I came to DEIB work, through seeing a lack of equitable access in healthcare. I've seen it firsthand, both experiencing it and witnessing providers lean into bigotry behind closed doors. I've seen far too many upper-to-middle-class w h i t e w o m e n fill up patient advocacy boards and organizations, never thinking about people without their cadillac insurance plans, transportation access, child care, or other resources. I've been pushing for over a decade for change. It has been slow, but this is happening.
If people did not think about the many ways DEIB practitioners come to this work or make space for us, they and their companies would lose out on vital viewpoints, information, and opportunities for change.
So, this Rare Disease Day, I challenge everyone to learn about rare diseases. The more we talk about them, the better the diagnosis can become.
Rare Disease Resources
My Rare Conditions
Systemic JIA
Macrophage Activation Syndrome with Dr. Alexei Grom
Max the Angry Macrophage (video)
MCAS
hEDS
PS: I released a poem this morning as well. It’s not rare disease related, but figured I’d share here, too!