It took seven years to get a diagnosis for Mady. There are fewer than 500 children worldwide with KAT6A, but most of them have even more severe symptoms than her. She is nonverbal with Intellectual Developmental Disabilities, motor planning challenges, controlled seizures and some challenges chewing and swallowing. In the fall of 2021, she fell ill and was diagnosed with severe Lupus and arthritis, which are still a struggle to manage.

Mady needs one-on-one assistance with many of her self-care tasks and uses modified sign language and assistive technology to communicate. She experiences daily pain and fatigue as a result of her Lupus and arthritis, and she takes many medications and supplements to keep her health stable. Her Autism and sensory sensitivities add some irrational fears which limits her ability to participate and travel with her family, and she sometimes requires a wheelchair.

Despite these limitations and hardships, Mady loves music and dance. She is particularly fond of country music and Blake Shelton. Mady is also passionate about abstract painting, likes to colors using dot markers, and enjoys playing with wooden puzzles. While she is nonverbal, Mady is very interested in learning to read and loves school. She has used sign language to communicate since 2nd grade, and wants to be a teacher one day.