The story of Denise
I have two different rare conditions, primary immunodeficiency and hypersomnia. Neither condition was diagnosed until I was in my 30s. That’s not because I didn’t have them, but because many, many red flags were missed by my doctors.
I could elaborate for pages on the warning signs that should have alerted my healthcare providers to ongoing problems: the constant infections, including unusual and severe ones like scarlet fever. The fact that when I was in high school I frequently fell asleep in class and spent my lunch hours napping in the library. I spent more time on antibiotics than not, and nobody seemed to have an issue with it. I pressed doctors for answers they didn’t find – or even seek, much of the time. It wasn’t until I was well into my adulthood, and my condition had deteriorated to the point where I was unable to work or even stay awake for more than a few hours, that I was finally able to get diagnosed.
I’d like to say that my story ends with, “and then I got treatment, everything was fine, and I lived happily ever after.” That’s unfortunately not the case. I have permanent damage due to the years without appropriate treatment. My body was pushed past the point of no return with the infections, and I’m now trying to stabilize it where it is.
I try not to hold anger toward the doctors that missed my rare diseases hiding in plain sight, but I want them to read my story. I want them to realize that in missing my diagnosis, harm was done. And I hope that the next time they encounter a patient like me, it will not take decades to diagnose them.