Lizz Yeh DiMaiolo said she and her husband, Bobby DiMaiolo, noticed early on that their child was not meeting his developmental milestones. Their son Remy didn’t smile as much as other kids. He didn’t track movement with his eyes or sounds, and he had some trouble with head control.

So, the Manhasset parents took Remy to several doctors. A neurologist said he had hypotonia or low muscle tone, which is common to a lot of genetic mutations. In January 2025, Remy underwent whole-genome sequencing, and they found that he had a newly discovered and incredibly rare genetic disorder called DHX30 syndrome.

After the shock of the diagnosis, Lizz and Bobby founded the Rare Remy Foundation in January 2026 to fund research into this ultra-rare condition. With Lizz’s background in management at Citibank and Bobby’s experience in the medical industry, the two said they had what it took to operate a successful non-profit.

“It’s been a long year and a half coming to terms with that diagnosis, understanding it, dealing with our own emotional reactions and traumas,” said Lizz. “I’m just happy that we’ve been able to turn it into something that will hopefully help [Remy] and help other rare-disease families too.”

DHX30 Syndrome was first identified in 2017 by a team of German researchers. Since then, only about 170 cases have been reported. It is a neurodevelopmental disorder caused by mutations in the DHX30 gene, which affects the central nervous system and brain development.

Symptoms vary, but they often include developmental delay, intellectual disability, speech impairment, seizures, eye misalignment, autistic features, and low muscle tone.

With fewer than 10 years of research on DHX30, Lizz said it was difficult even to get information on her son’s condition.

“Because this is an ultra-rare condition, there were very few resources, very little information, and we knew that rare diseases are, unfortunately, very overlooked,” she said.

She and her husband found support in some unlikely places — like a Facebook group for parents from around the world, all grappling with the understanding of this rare disorder.

“It was such a relief to be able to find a Facebook group of other parents and families that have the same mutation as my son,” said Lizz.

Source: LI Press