I'm her only surviving parent, MBD5 is stealing me from her
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.
Call to action
Our family’s case offers a unique opportunity to study the interplay of MBD5 deletion, a rare CYTB variant, non-coding mtDNA variants, and potential RYR1 related inflammation. My youngest daughter’s involvement in the UDN has already led to novel findings, but we need your expertise to uncover more answers and develop targeted therapies. Join us in this journey to improve our lives and contribute to groundbreaking research in rare genetic disorders.
My Daughters’ Father Contributed to Research Before His Passing, and We’re Committed to Continuing the research answers our family can provide for Medical Breakthroughs
Three years ago, my daughters’ father passed away, but before his death, he signed release forms and provided blood samples for research through the Undiagnosed Disease Network, hoping to help find answers for our family. My daughters and I are willing to provide any DNA samples researchers need to advance this work and develop treatments for our conditions.