Sophia

This is Sophia. She is turning 25. She is a delightful little person who has thrived despite many surgeries (brain, spine, hips). She cannot ambulate but operates her custom pediatric wheelchair. She communicates through signs, utterances and a communication app on her iPad. She has been diagnosed with Pierpont Syndrome (associated with a p.Tyr446Cys missense mutation in the TBL1XR1 gene).