Thursday June 25th - Dr. Kathryn Swoboda and her team will meet with families to address current medical concerns, answer questions, and update any medical history for the Natural History Database, with specific focus on current episode status, symptoms and medications, as well as genetic mutation status.
We have developed a daily episode log and medication log for the AHC community to use through a survey link that we can share. The goal of the episode log is to keep track of daily episode status including type of episodes (epilepsy, dystonia, hemiplegia), duration of episode, if a rescue medication is used, and the well-being of the individual for that day. The episode log is intended to be used for a minimum of 4 – 6 weeks to better understand the episode pattern. The goal of the medication log is to keep track of the medication status including medications, their dose and frequency, start and stop date to better correlate with their episodes’ status and future symptom managements. The medication log is intended to be updated every 6 - 12 months and we can send out the link via individual email. This information is imperative to our understanding of the effects of current medications and to guide future drug development and clinical trials. Through a live demonstration, we will go over how to enter the information, explain what the questions are asking and how they support future clinical trials.
In addition, genetic counseling student, Abbie Burney, will be recruiting family members to participate in her research study, “Parent reported outcomes of Flunarizine in children with AHC”. Her study aims to find a correlation between specific patient or dosing characteristics and the efficacy of Flunarizine, with the hope of maximizing the therapeutic benefits.