Manhasset Family Launches Foundation to Research Ultra-Rare Genetic Disorder

The Rare Remy Foundation aims to fund studies and build a community around DHX30 syndrome.

Apr. 17, 2026 at 3:08pm

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An ethereal, translucent X-ray image showing the delicate structures of the human brain and nervous system, conveying the medical complexities of rare genetic disorders.A ghostly X-ray image reveals the intricate neural pathways of the human brain, highlighting the complex challenges faced by those affected by rare genetic disorders like DHX30 syndrome.Manhasset Today

Lizz Yeh DiMaiolo and her husband Bobby DiMaiolo founded the Rare Remy Foundation after their young son Remy was diagnosed with the ultra-rare genetic disorder DHX30 syndrome. With limited information and resources available, the family is now working to raise funds for research, build a patient community, and partner with medical organizations to better understand and potentially treat this neurodevelopmental condition.

Why it matters

DHX30 syndrome is an incredibly rare disorder, with only around 170 known cases since it was first identified in 2017. The lack of information and support available for families dealing with this condition highlights the challenges faced by those affected by ultra-rare diseases, which often receive less attention and funding than more common genetic disorders.

The details

When Lizz and Bobby DiMaiolo's son Remy was not meeting his developmental milestones, they took him to several doctors. A neurologist diagnosed Remy with hypotonia, or low muscle tone, which is common to many genetic mutations. In January 2025, whole-genome sequencing revealed that Remy had DHX30 syndrome, a newly discovered and incredibly rare condition caused by mutations in the DHX30 gene that affects the central nervous system and brain development.

  • Remy underwent whole-genome sequencing in January 2025.
  • The Rare Remy Foundation was founded in January 2026.

The players

Lizz Yeh DiMaiolo

Remy's mother and co-founder of the Rare Remy Foundation, with a background in management at Citibank.

Bobby DiMaiolo

Remy's father and co-founder of the Rare Remy Foundation, with experience in the medical industry.

Remy DiMaiolo

The young son of Lizz and Bobby DiMaiolo, diagnosed with the ultra-rare DHX30 syndrome.

Rare Remy Foundation

A non-profit organization founded by the DiMaiolo family to fund research into DHX30 syndrome and build a community for affected families.

n-Lorem Foundation

A non-profit organization that the Rare Remy Foundation has partnered with to analyze Remy's DNA and develop a treatment.

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What they’re saying

“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. 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.”

— Lizz Yeh DiMaiolo, Co-founder, Rare Remy Foundation

“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.”

— Lizz Yeh DiMaiolo, Co-founder, Rare Remy Foundation

“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. The community is so incredibly important.”

— Lizz Yeh DiMaiolo, Co-founder, Rare Remy Foundation

What’s next

The Rare Remy Foundation is actively seeking to expand its partnerships with medical research organizations and establish a more structured donation system to fund its efforts to better understand and potentially treat DHX30 syndrome.

The takeaway

The story of the Rare Remy Foundation highlights the challenges faced by families dealing with ultra-rare genetic disorders, where limited information and resources are available. By launching this non-profit, the DiMaiolo family is not only seeking answers for their own son, but also working to build a supportive community and drive critical research into this little-known condition.