Tuesday, March 18, 2025 - Week 12 SYNGAP1 & Unmet Need Preface -Let’s separate the notion of symptoms and disease description with lived caregiver and patient experience. When you do this, charts about seizure progression and symptom list lose their sterile veneer and become horror stories. --This is critical because clinicians have become desensitized to patients' complaints and SYNGAP1 caregivers are tired of trying to explain to people how this disease hits you. SRD is slow moving, but suddenly changing and completely enervating. Medical: Existing treatments/polypharmacy is woefully inadequate & worsens as patients age: -Unrelenting intractable and worsening seizures cause side effects and require constant vigilance and partnership with Neuros -Medication changes can cause issues such as rage -Long-term side effects, e.g., bone health issues, from chronic medication use -Drug-drug interactions (DDIs) are rarely addressed despite complex prescriptions from multiple specialis...