We Can't Do It Alone | Sanford Burnham Prebys

Our annual Rare Disease Day Symposium

With more than 175 attendees and 22 noted scientists and clinicians from around the world, Sanford Burnham Prebys Medical Discovery Institute hosted the ninth annual Rare Disease Day Symposium, a global forum for those interested in congenital disorders of glycosylation (CDG) — rare inherited disorders that affect only 1,200 patients worldwide.

Malin Burnham and T. Denny Sanford, honorary trustees of Sanford Burnham Prebys, kicked off the three-day event in February, noting that advances in medicine require the participation of, and exchange among, all stakeholders—scientists, physicians, affected patients and their families, support groups, granting agencies, industry and philanthropists.

Hudson Freeze, Ph.D., director of Human Genetics Program at Sanford Burnham Prebys, an acknowledged expert in CDG and the symposium chair, said, “This event brings together stakeholders from around the world to share in each other’s successes and challenges and discuss the future of CDG research.”

Children with CDG have varying levels of difficulty with speech and language, balance, motor control, vision, hearing and seizures. Because the condition is so rare, many patients bounce between doctors and clinics for years before they receive an accurate diagnosis.

An innovative session called “Doctor-is-in” connects families with medical researchers and clinicians in small groups. For medical researchers, the session is often their first opportunity to observe and interact with patients in person.

The symposium, the largest in the history of the event, was organized and run by Sanford Burnham Prebys, members of CDG CARE (Community Alliance and Resource Exchange) and the nonprofit corporation NGLY.1. It was funded by donations, grants, and corporate and industry sponsorships, including support from Retrophin, a biopharmaceutical company focused on the discovery and development of drugs for the treatment of catastrophic diseases that are debilitating and often life- threatening, and for which there are currently limited patient options.

“Being the parent of a child with an undiagnosed rare disease can be a lonely place. We thought we were the only people in the world affected by Nolin’s type of CDG. We’ve since learned that there are nine more children with his specific condition. And now at this conference, I’m meeting other families that have had similar experiences—there is an immediate connection—a common bond.”

— Darlene Schopman, mother of Nolin, a 6-year-old boy diagnosed with CDG.