Diagnosed With Alzheimer’s at 46: Inherited Alzheimer’s and the PSEN1 Gene | Francisco Rios and Zahydie Burgos

Journey to Diagnosis is a Being Patient series sponsored by Eisai. As with all of our reporting, the sponsor has no role in choosing guests, shaping questions, or reviewing content before publication.Eisai: https://www.eisai.com/index.htmlJourney to Diagnosis: https://beingpatient.com/journey-to-diagnosis/

For more than a year, Francisco “Pako” Rios experienced memory lapses, difficulty concentrating, disrupted sleep, and changes in his behavior. His symptoms were initially attributed to depression and anxiety. But Rios, whose father, grandfather, and great-grandmother all had Alzheimer’s disease, suspected something more serious.In 2022, an MRI ordered for an unrelated reason revealed brain atrophy, prompting further testing. Rios was diagnosed with early-onset Alzheimer’s at age 46. Genetic testing later identified a mutation in the PSEN1 gene, which is associated with dominantly inherited Alzheimer’s disease, a rare form of the condition that can affect people decades before the typical age of onset.In this conversation with Being Patient founder Deborah Kan, Rios and his wife and care partner, Zahydie Burgos, discussed the challenges of a diagnosis at a young age, the lack of support services for people living with younger-onset dementia, and Rios’ participation in a clinical trial combining the Alzheimer’s drug lecanemab (Leqembi) with an experimental anti-tau therapy. Despite side effects, Rios explained why he remains committed to the trial and what he hopes his participation will mean for future generations.----If you loved this Live Talk, visit our website to find more of our Alzheimer’s coverage and subscribe to our newsletter: https://www.beingpatient.com/Follow Being Patient: Twitter: https://twitter.com/Being_Patient_Instagram: https://www.instagram.com/beingpatientvoices/Facebook: https://www.facebook.com/beingpatientalzheimersLinkedIn: https://www.linkedin.com/company/being-patientBeing Patient is an editorially independent journalism outlet for news and reporting about brain health, cognitive science, and neurodegenerative diseases. In our Live Talk series on Facebook, former Wall Street Journal Editor and founder of Being Patient, Deborah Kan, interviews brain health experts and people living with dementia. Check out our latest Live Talks: https://beingpatient.com/live-talks/