From Horses to Zebras: My Rare Disease Journey

Author: Amanda DeBellis

I’ve been sick my whole life: crippling stomach aches, chronic infections (ears, sinuses, stomach bugs, and skin rashes) and joint problems. For years, my pediatricians shrugged off my symptoms, saying I was an overactive child and likely had anxiety. My parents were told my strange behaviors–fussing, tantrums, and nervous compulsions–would dissipate with age. What no one knew is how incredibly sick I was. I just didn’t know how to express how poorly I felt, and consequently, no tests were run.

By the time I turned 14, my symptoms reached a peak. My stomach hurt constantly and severely, with accompanying nausea and vomiting. I had migraines, muscle aches, swollen joints, chronic exhaustion, and an immune system that couldn’t even fight off a cold. Going to school for more than 3 hours was impossible, never mind engaging in extracurricular activities like skiing or riding my horse. My nights and weekends weren’t spent with friends, but in the Emergency Room and in inpatient hospital units.

Throughout high school and my first 2 years of college, I was referred to numerous specialists: neurology, gastroenterology, allergy, ENT, and rheumatology. I was subjected to intestinal biopsies, MRIs, CT scans, exploratory surgery, and endo/colonoscopies. No one could find anything wrong, and I was diagnosed with IBS and anxiety. The medications they put me on were not only ineffective, but damaging, and my symptoms got worse. No doctors believed me, and whenever I was seen, I was told that my symptoms were all in my head, and maybe I needed a psychiatric consult/hospitalization.

In my junior year of college, I was referred by my primary care physician to gastroenterology at Massachusetts General Hospital. My gastroenterologist told me, unlike so many others, that he believed there was something wrong and he wasn’t going to stop until he found out what. After 2 endoscopies, a smart pill study (in which the pill got stuck and needed surgical removal), and a gastric emptying study, I was diagnosed in January 2017 with Idiopathic Gastroparesis. My doctor told me there were less than 500 cases of my disease in the US, and less than 4,000 worldwide.

There is no approved treatment for Idiopathic Gastroparesis in the United States. There is no cure. This disease–which paralyzes my GI tract, starves my body of nutrition, and cripples my immune system–is progressive and fatal. My specialist has me on a cocktail of medications that helps mitigate some of the worst symptoms, but the cocktail is not a permanent fix. I am hopeful that more treatment options become available for my disease in the future.

In spite of this, however, I am incredibly grateful. I’m grateful to still be here, to still be fighting. I feel lucky to have such a strong support system from my friends, my parents, and my gastroenterologist, who have never given up on me, even when others in and outside of the medical community have.

To other patients, I say this: don’t give up. The process is long and it can be brutal, but don’t stop until you get the answers you need, and don’t take “no” for an answer. Don’t be afraid to ask for help or support. You are an expert in how you’re feeling, and you shouldn’t feel embarrassed asking for a second (or third or fourth) opinion. In a world of horses, you are a zebra. Gallop on.