About Us
For nine years, I’ve advocated for my daughter, Squishy, who battles "MAND" MBD5 associated neurodevelopmental disorder and mitochondrial dysfunction, marked by seizures and developmental delays. As her caregiver, I’ve driven monthly to Texas Children’s Hospital, founded The Squishy Guitar Project to inspire kids with medical challenges, and engaged with the Rare Disease community through NORD events, genetic studies, advocacy boards and The Rare Compassion Program. Our story has appeared in KATC News and 008 Magazine. Now, my own seizures, memory loss, and aphasia linked to the same MBD5 deletion and mitochondrial issues make this urgent. My family is ready to provide tissue samples and releases to fuel research. We need neurogeneticists, mitochondrial experts, and epilepsy researchers to drive breakthroughs for Squishy and others. Explore our journey and join us. Connect today to make a difference.
Our Research history
Our journey includes participation in the Undiagnosed Disease Network, Chromosome Disorder Outreach, MAND Research by Elsea Lab, a clinical validation study of Saphyr technology for pediatric neurodevelopmental variants, and an epilepsy-EKG study at Baylor College of Medicine. These efforts have deepened our understanding of seizures, developmental delays, and genetic complexities.
Our mission
For almost a decade, I’ve watched MBD5 Deletion and Mitochondrial Disease challenge my daughter. Medical research holds the key to hope, but progress is too slow. We’re building a team to tackle this head-on. Driven by science, fueled by purpose. Join us to make a difference that echoes beyond our family.