PATIENTS' DATA POWERING PROGRESS

An Opportunity to Band Together

Geoff Rhyne’s daughter Ella began missing milestones at around three months of age. His wife, a special education teacher whose sister has Down syndrome, recognized Ella’s problems early and began seeking a diagnosis.

After about 15 months, the family learned Ella has the rare genetic disease known as Kleefstra syndrome. The condition, first named in 2010 for the Dutch researcher who identified the underlying gene that causes the syndrome, leads to intellectual disabilities and distinctive facial characteristics, low muscle tone, and autistic-like behavior.

Rhyne said he’s not one to spend time worrying about things he can’t control, but once they had a diagnosis, Rhyne had something tangible on which he could act. “I am someone who likes to see challenges and meet challenges,” he said.

He spent several months learning about Kleefstra syndrome, what was being done, and how he could best contribute to the effort. There was a patient organization in Canada, and some research was being conducted at Boston Children’s Hospital. But, unfortunately, there was no patient organization in the United States. So, banding together with a group of other fathers he met along the way, they launched the nonprofit IDefine in September 2020 to discover treatments and cures for people with intellectual disabilities stemming from genetic disorders.

Before launching, Rhyne said he reached out to rare disease patient advocates to learn what mistakes he needed to avoid. One of his conversations was with Preston Campbell and Cam McLoud of the Cystic Fibrosis Foundation, who happened to live near him in South Carolina. As a result, Rhyne learned how the organization’s data collection was a key differentiator and critical for its success. The other key takeaway from that conversation was that the organization needed to be laser-focused and outsource the things that they cannot do well themselves.

The conversations he had led him to people involved in RARE-X, and when the organization launched its first set of pilot data collection programs, it invited IDefine to participate. While he said he had discussions with other data collection platform providers, he noted RARE-X seemed best aligned with the principles of IDefine.

“We are essentially outsourcing this to RARE-X and have confidence that they can now collect all this governed, regulated, federated data so that we don’t have to redo it. That’s a big thing,” he said. “We have trust in RARE-X to be able to gather the data appropriately and to make it accessible to interested folks.”

He said other organizations he talked to don’t have the same focus on collaboration that RARE-X has. “They’ve approached this to impact the whole as opposed to getting too granular,” said Rhyne. “That harkens back to what we believe as an organization. We didn’t name ourselves Kleefstra Syndrome USA for a reason. We want to have a broader approach.”

He said rather than just focusing on Kleefstra syndrome, he believes IDefine can help advance understandings of related neurodevelopmental disorders and benefit from advances in these related conditions to find potential treatments for Kleefstra syndrome.

“It’s an opportunity for us to band together with a larger community to cast a wider net to have a more global impact,” he said.

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