MY STORY

My story starts way before I developed rare chronic illnesses. Growing up, I was always an active and energetic girl who loved going to the beach, spending time with friends, and spending hours a day horseback riding.

But before I knew it, the life I had always known was taken away from me in an instant and the unthinkable happened…I became a 1 in a million case. 

On August 3, 2021 I had a simple procedure that should have left me pain free, but it did the exact opposite. I ended up developing a condition called Complex Regional Pain Syndrome (CRPS) which put me in indescribable chronic pain 24/7. I tried so many treatments for the pain including a pain program, nerve block, and more, but nothing helped. However, eventually my pain subsided putting me into remission. 

In early January of 2022 I developed an allergic reaction rash that soon turned into an infection from tape that was used on my foot during a physical therapy session. I began noticing tiny lesions appearing around the areas that were red from the infection, and even days after the infection had cleared up these tiny lesions continued to appear. Towards the end of January they began getting worse and had spread from just my foot to my entire right leg. No doctor could figure out what they were or why this was happening. Some told me it was due to “CRPS skin breakdown” or that it was “a functional issue.” My parents and I began noticing that when these lesions would appear, they would often be in the center of what looked like a giant hive. Nearly nine months later with no answers or treatment in place for these lesions, I met with an amazing doctor. After just one hour, he suspected the lesions were a rare presentation of Mast Cell Activation Syndrome (MCAS). He consulted with an MCAS specialist, ran the appropriate tests, and started me on h1 and h2 blockers. I noticed positive changes only days after starting the medications, and around the same time, some of the tests started to come back. It wasn’t until nearly ten months after my symptoms started that I was able to receive treatment and an accurate diagnosis. 

Unfortunately my journey doesn't end here, in April of 2022 I began experiencing severe nausea, stomach pain, and early satiety. Not knowing what or why these symptoms were appearing was scary. I attempted to ignore them for as long as possible, but eventually it got to a point where I couldn’t even keep a sip of water down without getting sick. I was admitted at the end of April and remained inpatient for six and a half weeks with NG and ND feeding tubes before being discharged with no answers. My symptoms never improved and I was admitted again in July. This time the inpatient team trialed motility drugs with an NG tube which was successful and gastroparesis was confirmed. 

In the end, we discovered that these comorbid conditions, and some of my other symptoms as well, were as a result of a rare genetic condition called Ehlers-Danlos Syndrome (hEDS). As a genetic condition, I’ve dealt with the constantly waxing and waning symptoms my entire life. However, it wasn’t until I began developing increasing levels of pain and joint instability coupled with some of hEDS common comorbid conditions, that it was looked into and eventually diagnosed.

While I have been able to improve a lot of my symptoms, thanks to the help of the very few doctors that truly cared, I still am dealing with several undiagnosed issues that have greatly impacted my life and continue to do so. I am raising money for research on several rare conditions so that physicians are more aware of them, leading to a shorter period of time between onset of symptoms and diagnosis, but also to help understand how they progress and present. I truly believe that with more research and knowledge, more people will be able to get the help they need even if they exhibit “rare symptoms” of an illness. 

Now, stronger than before my hope for the future is to go to med school and ultimately become a physician. As a future physician I strive to take my negative past experiences to help change the future of medicine, all while proving to the world that those of us with “zebra” conditions are not too rare to care.