#341 How One Family Faced Seven ALS Diagnoses and Chose Advocacy

In honor of ALS awareness month, we are joined by Debbie Lower. She is a remarkable advocate, educator, and caregiver whose family has been deeply impacted by ALS. Over the last three decades, Debbie has lost seven family members to ALS and frontotemporal dementia (FTD), many of whom carried the C9orf72 gene mutation. From caregiving for her mother to mentoring other families and advocating for research funding, Debbie has turned unimaginable loss into powerful action. Today we’ll dive into the genetics of ALS, the current landscape of research and drug development, and how Debbie continues to support families navigating the emotional and genetic complexities of this disease.   Episode Topics Include: How ALS and FTD unfolded in Debbie’s family over multiple generations The impact of receiving a negative genetic test result for C9orf72 What the C9orf72 repeat expansion means for familial ALS and FTD Other genes linked to ALS and how genetic testing is evolving The emotional and psychological complexities of genetic diagnoses The difference between familial and sporadic ALS Promising clinical trials and research efforts in genetic ALS How advocacy and mentorship empower families facing these rare diseases Debbie’s advice for newly diagnosed families navigating ALS or FTD   Resources Mentioned in Episode:  I Am ALS Organization  The ALL ALS PREVENT Study  The ALL ALS ASSESS Study  HEALEY ALS Platform Trial End The Legacy Organization   Team Gleason Foundation (specifically their tech like controlling wheelchairs with eye gaze) I'm Dying To Tell You Podcast  Go On, Be Brave Documentary  Tofersen drug reversing some people’s symptoms (In 2023 the FDA approved it to treat SOD1-ALS)  “Artificial intelligence empowered voice generation for amyotrophic lateral sclerosis patients” Regondi et. al 2025 Nature Paper “Evidence-based consensus guidelines for ALS genetic testing and counseling” Roggenbuck et. al 2023, Annals of Clinical and Translational Neurology Paper “Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD” Benatar et. al. 2025, J Neurol Neurosurg Psychiatry Paper    At the end of the episode, host Kira Dineen has a heartfelt thank you to one of her mentors who has ALS, Doug Campbell. He has been and continues to be instrumental in the development of the DNA Today brand and business.  Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday.  While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel!  DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.    See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].