The story of Ellie
Hi! My name is Ellie and I am almost 2 1/2 years old. My parents noticed I was different really early on because of my hypotonia and everted ankle, as well as developmental delays. They did loads of testing and at 2 years old I was diagnosed with an RHOBTB2 mutation, which only about 20 people in the world have! There is not much research about my disease, but the fact sheet that we do have says many individuals with it may never walk. I, however, have these really cool braces and have done lots of physical therapy. I started taking independent steps at 2 years old and I’m now fully walking on my own! I am continuing to learn and grow every day and I will never let my diagnosis hold me back.