Charlie’s Story

Charlie was born healthy in March 2015, but eight weeks later, he suddenly stopped eating. He was admitted to Children’s Wisconsin in Milwaukee. After a weeklong stay and dozens of tests, Charlie left with a feeding tube but no answers. As time went on, more symptoms appeared. Doctors discovered hypertrophic cardiomyopathy, followed by glaucoma, scoliosis, hyper and hypothyroidism, respiratory failure, neurological concerns and the list goes on. Charlie underwent the most advanced genetic sequencing... twice...yet still no answers.

Six years later in 2021-- an answer: ATAD3A Harel-Yoon Syndrome, a disease discovered in 2016 after Charlie was born.

Charlie is unable to walk, talk or eat by mouth. He currently sees 15 specialists at Children’s Wisconsin and has had more than a dozen major surgeries. Despite all of Charlie’s medical challenges, he is a very happy boy! He enjoys snow sledding, fishing with grandpa and being around people. For a kid who doesn’t talk, he’s very social and his absolute favorite activity is talking on the phone, especially FaceTime.