Nine years ago, Miah Yager was an active, life-loving young woman who had made great strides overcoming Down syndrome symptoms when, very suddenly, she crashed. Linda Roan said her daughter changed from her “world-by-the-tail” self to someone completely different. She stopped talking to friends and family, started hallucinating and could no longer sleep, getting maybe an hour each night.
In many significant ways, Roan said, “she was gone.”
Miah and her family have since been riding a roller coaster with her debilitating condition – Down Syndrome Regression Disorder (DSRD) – and the cause of the rare disorder remains a mystery. But hope is emerging, thanks to a collaboration of scientists and physicians from the Linda Crnic Institute for Down Syndrome at the University of Colorado School of Medicine, the Anna and John J. Sie Center for Down Syndrome at Children’s Hospital Colorado, and Children’s Hospital Los Angeles.
The researchers are studying potential causes of DSRD as well as promising therapeutic approaches. The five-year, $5.3 million study, funded by a grant from the Eunice Kennedy Shriver National Institute for Child Health and Human Development, is a first-of-its-kind holistic investigation into DSRD.
“I think the evidence keeps on growing on this idea that the immune system may be involved and is attacking the brain,” said Joaquin Espinosa, PhD, executive director of the Linda Crnic Institute for Down Syndrome, one of the study’s multidisciplinary team leaders. “It may be one of the underlying causes of Down Syndrome Regression Disorder.”
In the episode of CU Anschutz 360 below, Espinosa and Roan talk about the challenges of DSRD – from the perspectives of research and caregiving, respectively – and the promise of this collaborative focus in Colorado, the global epicenter of Down syndrome research.
Thomas Flaig, MD, vice chancellor for research at the CU Anschutz Medical Campus, co-hosts the discussion.