Jacksonville organization focused on finding cure for 1 rare disease

JACKSONVILLE, Fla. – Saturday is Rare Disease Day -- a day designated to raising awareness about the roughly 7,000 rare diseases impacting people across the country.

In the U.S., a disease is considered rare if it impacts less than 200,000 people.

Shortly after his first birthday, Ben Myers started having seizures. He was later diagnosed with a rare form of epilepsy and autism caused by a change in the gene called SCN2A.


“Our children that are affected by this disorder may not make it out of childhood, and those that do, have multiple medical issues and development issues," said Amy Kozsuch with FamiliesSCN2A.

The foundation is a non profit created by Ben’s mother and the parents of other children diagnosed with the disorder. It has the goal of finding treatment and a cure.

According to the National Organization for Rare Disorders, there are more than 300 million people worldwide living with rare disorders, including more than 25 million Americans.

On Rare Disease Day, and every day, Kozsuch said it’s important to raise awareness about these disorders to make a difference.

“There’s such energy into finding treatment and a cure," Kozsuch said. "We actually have treatments out there right now that are going through clinical studies that are not approved yet, but they are on their way so it brings hope.”

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