The Porter Proud 5k Run/Walk/Roll will be held at 9:30 a.m. Saturday, Oct. 8, at the Ellery Town Park with proceeds benefitting the KARES Foundation, which funds research into the genetic disorder KDM5C and helps families meeting its challenges. Porter Cofer, 9, of Ashville, is one of about 100 people worldwide to have tested positive for KDM5C. Photo submitted to The Post-Journal

A rare disorder has inspired a new foundation, donations to research, and a world-wide virtual race including a local, in-person event.

KDM5C — a disorder of a master regulator gene that controls how other genes in the body are turned on and off — has had many impacts.

What it hasn’t done is hold Porter Cofer, 9, of Ashville, back from being a happy kid.

Porter is one of about 100 people in the world to have tested positive for KDM5C. His KDM5C has manifested as ADHD, autism, and him being non-verbal, Porter’s mother, Heather Cofer, said.

Although KDM5C has only been know for a few years, Porter’s symptoms are pretty common. “A change in this gene causes dysregulation and impaired neural function in all parts of the body throughout the person’s lifetime,” Cofer said.

The test for KDM5C is new — it’s only been around since 2010, Cofer said. As testing becomes more common, she believes it is likely that more cases will be discovered.

“Porter has autism because he has KDM5C. This is the underlying condition,” she said. “There could be tons of kids who have autism… that could have a deeper underlying cause.”

The KARES (KDM5C Advocacy, Research, Education, and Support) Foundation was formed to support families impacted by KDM5C and to fund research into the genetic disorder. “KARES was formed in May of 2022 by four moms on a mission to bring attention to the rare genetic variant affecting their children,” according to a release.

The foundation’s initial fundraiser will be held world-wide Oct. 8 and 9.

A local event — the Porter Proud 5K Run/Walk/Roll — will be held starting with sign-ups at 9:30 a.m. and race to follow at 10 a.m. Saturday, Oct. 8, at the town of Ellery Park.

“The Virtual 5K aims to raise $30,000 to accelerate KARES’ mission to improve the lives of affected individuals through KDM5C Advocacy, Research, Education, & Support,” according to Cofer, who is on the board of the foundation. “Funds from the Virtual 5K will go to KDM5C-related research and help for families with the cost of assistive technology such as voice output devices and adaptive bicycles.”

So far, the initial event is doing well — efforts had already exceeded the goal and reached $41,000, Cofer said.

“The whole point of the virtual 5k was we could do this as a global fund-raiser so that anyone around the world could be involved if they wanted to,” Cofer said. “Some of the families formed teams. Our team is called Porter Proud.”

Team members have already donated $2,920 and there are 42 people signed up for the local run/walk/roll. Those looking to participate may visit runsignup.com/kares.

“If people are interested in coming to the run, they can show up and register day-of,” Cofer said.

The lead sponsor for the event is the Eatery Restaurant in Jamestown. Maplevale Food Service, Curtze Food Service, and Cummins are the other business sponsors for the event.

More information is available by visiting kares.foundation, or via email to Marketing Coordinator Melissa McNeilly at info@kares.foundation.

Porter is not a victim of KDM5C — he’s a kid who happens to have a genetic disorder.

“Despite these challenges Porter is one of the happiest kids you’ve ever met with the best personality and a great sense of humor,” Heather Cofer said.