I have been invited through LinkedIn by a community Manager at March who are partnering with University of California, Berkley to share my perspective as a rare disease mom and nurse in their global campaign to highlight some hard challenges rare disease patients and families face. They are holding a conference in April 2025 titled, "Transforming Care for Rare Diseases Through AI" where they will explore how AI is revolutionizing rare disease detection and management highlighting key innovations and case studies."
Below is my tidbit of contribution for their conference:
Hello, my name is JiYoung and thank you for allowing me to share my lived experience as a mother to a 13 year old boy with a rare genetic condition called Dup15q Syndrome which is a neurodevelopmental disorder characterized by having an extra copy of a portion of chromosome 15 in combination with a number of symptoms that may include hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy, including infantile spasms. Our family faces many challenges on a daily basis and it's hard to pick just one to talk about here as each is equally difficult in its own unique ways. One of the challenge and frustration we face is getting his seizures under control and being prescribed antiepileptic drugs with may or may not work for him. We go from one medication to another hoping we matched the right one only to find that it may worsen or have no effect on his seizures. I am hoping with further research and clear biomarker identification to his syndrome, a personalized drug for his condition will hit the specific targets so that there is less episodes of drug trial and error as well as reduced adverse reactions.
