Jul. 29, 2022
TOPIC: Patient Stories
Posted by Julie Ostroff
I’m Rebekah Britto, Mrs. Massachusetts Petite 2022, and I have both Chiari malformation and Ehlers-Danlos syndrome (EDS). My rare disease journey began in 2013, when I started struggling with symptoms including passing out, vertigo, tinnitus, vision disturbances, and more. It took about a year of going back and forth between medical teams and Boston’s Massachusetts General Hospital neurosurgeons to understand my rare brain malformation. I had never heard of Chiari before my MRI.
Years later, pain throughout my body had gotten increasingly worse, and my primary care doctor recognized that something was wrong but couldn’t pinpoint it. After being sent to specialist after specialist, a rheumatologist realized I was extremely hypermobile and mentioned EDS. Again, this was something I had never heard of.
Living with these rare conditions has proven to be difficult. I find that awareness is a huge component of that, and I am extremely grateful for NORD and all that can be learned through their programs. Finding care teams and diagnostic teams needs to be more attainable. Treatment of these conditions is also something I find hugely lacking, but I have hope for a future where people with rare conditions can, with the help of NORD, find what they need.
I have hope in the genetic research that NORD is doing for EDS. Connective tissue disorders are not hugely studied, so it seems as though hope can be fleeting for someone living with it. However, I believe with the advances in science and genetic markers being studied that there can be a break in the future of those living with EDS.
I have chosen to share my story and make NORD my platform at the Petite USA Pageant because awareness is key. When I was very ill, I went to the emergency room several times within a six-week period, and not one nurse or doctor knew how to treat me or understand my conditions. I was left untreated, mistreated, and made sicklier.
I was able to impact those hospitals by providing training materials to the lead nurses of the emergency department through the Ehlers-Danlos Society medical files. I do not want to see this happen to anyone who is looking to receive medical attention. I hope that my efforts – past, present, and future – impact others seeking medical support.