Madison Reporter

Imagine having a child who seems healthy at birth, only to face unexplained developmental challenges as they grow. This was the reality for Danelle McGuire, whose son Treyson Wallace was born in May 2009 after an uncomplicated pregnancy but soon showed signs of a rare condition.

After failing a newborn hearing screening and being diagnosed with clubfoot, Wallace missed key developmental milestones. Despite extensive testing, no diagnosis was found until the family consulted Dr. Janet Legare at the Neuromotor Clinic at the University of Wisconsin–Madison. Dr. Legare suspected a genetic cause and referred them to the UW Undiagnosed Disease Program for whole genome sequencing.

This advanced testing revealed that Wallace has a rare condition caused by a mutation in the AGO1 gene, leading to neurodevelopmental disorders with language delay and epilepsy. "We evaluate patients with rare genetic symptoms in cases where other genetic testing has failed to provide an answer," said Dr. Bryn Webb, director of the Undiagnosed Diseases Program.

Webb describes this journey as a "diagnostic odyssey" that can span years or even decades for families like Wallace's. The discovery has brought relief to McGuire, who expressed gratitude for understanding her son's condition was not preventable.

Dr. Webb emphasized the significance of such findings: “It’s a wonderful feeling when we are able to identify a genetic change that we believe to be disease-causing.” With this diagnosis, new care plans have been put into place for Wallace.

Throughout this experience, McGuire has relied on support from programs like one in Columbia County that connected her with Halley Harms, a respite provider offering overnight care twice monthly.

The diagnosis marks an end to years of uncertainty for McGuire and provides clarity about how best to support Wallace moving forward.