Riley patient taking 'exceptionally rare' condition in stride

Seven-year-old Chandler Hammond was diagnosed with what his doctor called an exceptionally rare genetic disorder named Hao-Fountain syndrome. His mom, Courtneay Dellavalle-Jones, said she noticed significant delays in her son's ability to walk and talk, and pushed for genetic testing. That testing confirmed the Hao-Fountain syndrome in 2021.

"The gene for Hao Fountain syndrome is this gene, USP7, and that gene is so sensitive one letter out of thousands can change the function enough, and really steer a child's developing brain into autism and difficult behaviors in a way that, even though everything else is optimized, that's all it takes," Dr. Theodore Wilson, medical geneticist, said.

Chandler is the only patient in Indiana with this diagnosis, and one of very few people with Hao-Fountain syndrome around the world.

"Hao-Fountain syndrome was first identified in 2015 by Dr. Hao and he identified six cases," Dr. Wilson said. "Dr. Fountain in 2019 identified another 11 cases. Since then, there's been one other publications with three more cases. So, the amount of literature that people like myself have to go on for this condition is greatly limited."

A multitude of therapies helps Chandler. Dellavalle-Jones said he began speech, occupational, and physical therapies when he was just 18 months old. His proud mom said she notices how much his hard work is paying off.

"Actually, a year ago from October he had said his first three-word sentence, and he was six years old then," Dellavalle-Jones said.

Chandler also plays t-ball and is in some general education classes in his elementary school. Dellavalle-Jones said it is important to her that her son feels like a normal child.

"We want him to feel not on the outside," Dellavalle-Jones said. "God has a story, God has a journey for everybody in this world, and I know he has something great for Chandler."