Sanford Burnham Prebys Medical Discovery Institute organizes symposium that brings families from across the globe to meet others with rare ailments related to Congenital Disorders of Glycosylation, or CDG
For Diana and David Papworth, it took 33 years to get a definitive diagnosis of the disorder afflicting their two children.
“We were in uncharted waters. We did all kinds of research trying to figure out what they had,” said Diana Papworth. “At first with Shaun, the doctors told us there was a one in a million chance it would ever happen again. It was OK to get pregnant. And then when Lauren was born, it was ‘Oh, it’s genetic.’”annual Rare Disease Symposium, sponsored by the Sanford Burnham Prebys Medical Discovery Institute and held at a Mission Bay hotel.
CDG is related to mutations that affect the addition of sugar building blocks, called glycans, to proteins in cells throughout the body. The addition of glycans to proteins is critical to the healthy function of cells. The family event aims to help those dealing with these uncommon disorders know that they’re not alone.
Damian is non-verbal. He’s getting ready to start high school next year. The Omlers attend the conference to learn and be part of the community with people in similar circumstances, said Donnie Omler. Advances in testing found that Shaun and Lauren Papworth had a subset called ALG 3-CDG. When they were diagnosed six years ago, they were the 15“We had no one like us,” said Diana Papworth. “It was scary. We didn’t know what to expect. We didn’t know what things would come up.”
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