Meet those impacted by DHX30
This is Ysabella. Just as her name would describe her, she is beautiful all the way through. She is deep in her teenage years; and while she is non-verbal, her personality shines through. Bella is able to walk with assistance, but prefers to crawl. She has 3 different movement disorders that make communication with her hands (via signing and use of a tablet) more difficult.
She is excited about our most recent endeavor of learning to communicate and play brain stimulating games with the use of an eye-gaze device. Bella stays busy doing balance, hippo, speech, swim and physical therapies weekly. She has a happy spirit that touches the hearts of all that meet her. Her laugh is infectious and frequent. While toys are not as captivating, there are certain things that are sure to get her attention. Mirrors, crinkly toys, Barney videos and her dogs and cats are sure to put a smile on her face. Bella’s development has always been delayed. While she is on a g-tube due to inability to gain weight, she also enjoys regular meals. As we learn more and more about DHX30, things like poor circulation, inability to regulate body temperature and dependencies on ATP utilization make more sense.
This is Adriana. She lives in British Columbia, Canada. She is 3 years old and was diagnosed with DHX30 in September 2018. She lives with her mommy, grandma and great grandma! She loves going outside and looking at the trees and reading books. She loves her dog Sadie, and watching Paw Patrol! We first noticed something was off when she wasn’t meeting the early milestones like holding her head up, or rolling over. She has been working with the Child Development team since she was 5 months old. Adriana is non-verbal and walks with a walker. She is expected to have intellectual disabilities and we are working on teaching her PECS and ASL to communicate.
We would love to add a small profile of all people diagnosed with DHX30! If you would like to be included or know someone who would like to be included, please email email@example.com with a write up and photo!