Cape Coral child only the 80th in the world diagnosed with rare disorder

A Cape Coral child was just the 80th person in the world diagnosed with and currently living with a very rare disease.

It has been a long road for 5-year-old Camden Rau and his family. His father says the worst part was not knowing what was wrong.

“When he was born, his skull was actually fused together,” said Steven Rau. “I couldn’t tell you how many times we were in the hospital not knowing, crying, talking to doctors.”

“His first open heart surgery was three weeks after he was born,” said Shelby Rau, Camden’s mother.

Genetic testing finally revealed Camden has KAT6A syndrome.

“Nobody knew anything about this disorder,” Steven Rau said. “We did our best to try to educate doctors, we couldn’t.”

The Raus’ have even joined forces with other concerned families to form the KAT6A Foundation, dedicated to supporting the international community of those affected by KAT6A and KAT6B.

Dr. Jill Fahrner works in the Johns Hopkins Epigenetics Lab studying diseases like KAT6A.

“Genes are not being turned on appropriately in certain cell types,” Fahrner said. “And that’s how you get the KAT6A syndrome.”

As for how you treat it, Fahrner’s team sees promise in animal models. She says, in a related condition, they saw improved learning and memory in mice.

“If we could treat with these drugs and reactivate those genes, that’s how we think we might be able to treat these disorders,” Fahrner said. “We’re still looking at, probably, at least seven-plus years, unless we can find a therapy that’s already FDA-approved.”

For now, Camden and his family keep moving forward on their own, celebrating his successes. Because while the 5-year-old is one of so few people in the world diagnosed with this rare disease, his parents say they already knew he’s one of a kind.