A rare disorder has inspired a new foundation, donations for research, and a global virtual race that includes a local in-person event.
KDM5C – a disorder of the master regulator gene that controls how other genes are turned on and off in the body – has had many effects.
What she didn’t do was bring Porter Cover, 9, of Asheville, back from being a happy kid.
Porter is one of about 100 people in the world who have tested positive for KDM5C. Porter’s mother, Heather Cover, said KDM5C has manifested as ADHD, autism, and being nonverbal.
Although KDM5C has only been known for a few years, Porter’s symptoms are very common. “A change in this gene leads to dysregulation and impaired neurological function in all parts of the body throughout a person’s life,” Cover said.
Cover said the KDM5C test is new — it’s only been around since 2010. As the test becomes more common, she believes more cases are likely to be discovered.
“Porter is autistic because he has KDM5C. This is the underlying condition,” She said. “There can be a lot of kids with autism…it could have a deeper underlying cause.”
The KARES Foundation (KDM5C Advocacy, Research, Education, and Support) was formed to support families affected by KDM5C and to fund research into the genetic disorder. “KARES was formed in May of 2022 by four mothers on a mission to bring attention to a rare genetic variant affecting their children,” According to a statement.
The Foundation’s initial fundraising event will be held worldwide on October 8 and 9.
A local event — the Porter Proud 5K Run/Walk/Roll — will take place starting with sign-ups at 9:30 a.m. and racing at 10 a.m. on Saturday, October 8, in the town of Ellery Park.
“Virtual 5K aims to raise $30,000 to accelerate KARES’ mission to improve the lives of affected individuals through KDM5C Advocacy, research, education, and support,” According to Cover, a board member of the foundation. “The money from Virtual 5K will go to research on the KDM5C and help families with the cost of assistive technology such as audio output devices and adaptive bikes.”
Cover said the initial event is going well so far — the effort has already exceeded the target and reached $41,000.
“The primary goal of the virtual 5k game is that we can do this as a global fundraiser so that anyone around the world can participate if they want to,” Cover said. Some families formed teams. Our team is called Porter Proud.”
Team members have already donated $2,920 and 42 people have signed up for the local running/walking/rolling race. Those looking to get involved can visit runignup.com/kares.
“If people are interested in running, they can come and sign up for the day,” Cover said.
The main sponsor of this event is Eatery Restaurant in Jamestown. Maplevale Food Service, Curtze Food Service, and Cummins are the other business sponsors for this event.
More information is available by visiting kares.foundation, or by emailing Marketing Coordinator Melissa McNeely at firstname.lastname@example.org.
Porter is not a victim of KDM5C – he is a child with a genetic disorder.
“Despite these challenges, Porter is one of the happiest kids I’ve ever met with the best personality and great sense of humor,” Heather Cover said.