Navigating the Road to a Cure — A Mother’s Perspective

Speaker: Audrey Davidow (Pitt Hopkins Research Foundation)

Occasion: Decision Making in Health and Medical Care: Modeling and Optimization

Date: May 17, 2021: Rare Diseases

Abstract: Pitt Hopkins Syndrome is a serious lifelong neurological disorder that is caused by random mutations in a gene and transcription factor called TCF4 on the 18th Chromosome. Symptoms typically appear when the first milestones are missed around 6 months. Many children with Pitt Hopkins are unable to speak, walk, or purposefully use their hands. Breathing problems, feeding tubes, seizures, anxiety, gastrointestinal, and orthopedic issues are common. Audrey Davidow is the President of the Pitt Hopkins Research Foundation and has spent the last 9 years fighting for funds, science, awareness, treatment and hopefully a cure for her son’s debilitating disease. Here she shares her journey—the highs, the lows, the successes and failures along the way.