Hi, I am Georgia, and I was born with a de novo mutation of Glut1 Deficiency Syndrome.
Because of this rare genetic disorder, my quality of life looks a bit different from my peers. I have strong ataxia, can't walk without assistance, struggle with fine and gross motor skills, and have difficulties with my speech (which is greatly delayed).
Despite all of the above, I am a bright and loving human, and I don't want my condition to fully define who I am. I love pretend-cook with my kitchen toys, so I can be just like my mom when she's making ketogenic meals for me. I love music and I learned how to dance in my own special way. I am very social, and have formed strong friendships at my kindy (my best friend's name is Clem!). I love arts and crafts, especially painting with my granny, and I will do anything to play and muck around with water!
My mom and dad work really hard to provide all the support that I need: from nutritious food, to weekly conductive education sessions, to physiotherapy, and speech language therapy. It's hard work, but they want to make sure I get every chance at a good life.
What would be even better though, is if we could collectively fund the much needed research to understand this genetic disorder better, and hopefully find a cure. The keto diet I am on, though it's helping, isn't a cure but a symptoms treatment - it helped immensely with reducing my scary seizures, it gave me more energy, and helped me progress with my more physical disabilities. It's far from perfect though, and with your help we can keep pushing for a better solution.
Just like you, I would love a chance to live a more typical life, and catch a breath a little.
