ONCE UPON A GENE - EPISODE 186 The Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu Manmeet Maggu is the Founder & CEO of Tréxō Robotics. Manmeet’s commitment to helping children with cerebral palsy walk drove the vision for Tréxō. An engineer and MBA by training, Manmeet has previously worked in several technical and project management roles before inventing a device called Tréxō, a robotic walker used in therapy programs...
May 11, 2023•37 min•Ep. 186
ONCE UPON A GENE - EPISODE 185 The Outlet - How Chris Anselmo Used Writing to Connect with Other Rare Disease Families and Come to Terms with His Own Diagnosis of Limb-Girdle Muscular Dystrophy Chris Anselmo is an avid writer and communicator living with Limb-Girdle Muscular Dystrophy, which has undoubtedly contributed to how adaptable, resilient and compassionate he is. EPISODE HIGHLIGHTS What has your diagnosis journey been like since the onset of symptoms? I have Limb-Girdle Muscular Dystroph...
May 04, 2023•40 min•Ep. 185
ONCE UPON A GENE - EPISODE 183 A Rare Collection - Wishing Well There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Wendy Erler It's my privilege to work in patient advocacy within the rare disease community. The people who have come into my life have impacted me, people have opened their hearts and shared vulnerable moments, fears and w...
Apr 20, 2023•15 min•Ep. 183
Intro Music: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/
Apr 18, 2023•5 min
ONCE UPON A GENE - EPISODE 182 Doctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Child's KCNT1 Epilepsy with Dadvocate Dr. Justin West Dadvocate Dr. Justin West is the father to Andrew, who has a devastating disease called KCNT1, a rare infant-onset seizure disorder. Justin serves as President and Co-Founder of the KCNT1 Epilepsy Foundation. EPISODE HIGHLIGHTS How has your work been impacted since Andrew's diagnosis? Surgeons tend to be probl...
Apr 14, 2023•48 min•Ep. 182
ONCE UPON A GENE - EPISODE 181 Helping Undiagnosed Patients Who Experience Symptoms of Rare Diseases Find Answers with Free Genetic Testing in a Matter of Weeks with Probably Genetic CEO Lukas Lange Lukas Lange is the CEO and Founder of Probably Genetic. They seek to give genetic testing to families who are experiencing symptoms of a rare genetic disorder. Go to probablygenetic.com, fill out a survey, and see if you qualify for a free genetic test so we can get more patients diagnosed who have b...
Apr 06, 2023•42 min•Ep. 181
Intro music: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/
Apr 04, 2023•5 min
ONCE UPON A GENE - EPISODE 180 Patients and Caregivers Being Compensated to Tell Their Stories and Get Connected to Research Opportunities with Rare Patient Voice Founder Wes Michael Wes Michael is the Founder of Rare Patient Voice, which connects families and caregivers of rare and non-rare diseases with opportunities to share their stories and their opinions with companies and researchers by participating in all types of studies— surveys, phone interviews, bulletin boards, focus groups, clinic...
Mar 30, 2023•20 min•Ep. 180
ONCE UPON A GENE - EPISODE 179 Take Part Founders and PYROXD-1 Parents - Matt and Maria Granados Matt and Maria Granados are the parents of 4-year-old Natalie, who suffers from a rare form of muscular dystrophy called PYROXD-1. They are the founders of the Take Part Foundation which helps to fund research for rare pediatric conditions. EPISODE HIGHLIGHTS Can you tell us a little bit about yourselves and your family? We are a family of four, almost five, with one on the way. Natalie is our oldest...
Mar 23, 2023•48 min
Intro music by Scott Holmes Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/
Mar 21, 2023•5 min
ONCE UPON A GENE - EPISODE 178 A Rare Collection - Exhausted and Energized There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Annie Kennedy, Rare disease advocate with the EveryLife Foundation I have a quote in my office that says "she took her power back without permission". As I stood in the back of the legislative conference during R...
Mar 16, 2023•13 min•Ep. 178
ONCE UPON A GENE - EPISODE 177 Real Rare Mama Shop Talk - Deciding What We Share About Our Lives and Recognizing How Far We've Come with Each Passing Year with Alyssa Poskarbiewicz CHARGE Syndrome Mom Alyssa Poskarbiewicz is a mom to a daughter Lenny, who has CHARGE syndrome. I actually got to meet her in person last spring and she's beautiful inside and out. I think you'll enjoy our conversation, but also go on to listen to all the past Once Upon a Gene episodes, especially the once-monthly sto...
Mar 09, 2023•38 min•Ep. 177
Background music by: Title: Living Life Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/
Feb 28, 2023•1 hr 48 min
ONCE UPON A GENE - EPISODE 175 Every Patient Matters - Discovering, Developing, and Providing Experimental ASO Treatments to Nano-Rare Patients for Free with n-Lorem Founder and CEO Stan Crooke Stan Crooke is the Founder and CEO of the n-Lorem Foundation. He's also the Founder and former CEO of Ionis Pharmaceuticals, the leader in RNA-targeted therapeutics. Under his leadership at Ionis, he pioneered development of the revolutionary antisense technology platform and created one of the largest, m...
Feb 23, 2023•40 min•Ep. 175
Intro music by Scott Holmes
Feb 22, 2023•5 min
ONCE UPON A GENE - EPISODE 174 A Rare Collection - To the Moon and Back There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Nicole Wright After many seizures, McCall was diagnosed with Dravet Syndrome. Since her diagnosis, her symptoms, seizures and developmental delays have worsened and multiple hospitalizations led to long recoveries. ...
Feb 16, 2023•23 min•Ep. 174
ONCE UPON A GENE - EPISODE 173 Honoring a Husband’s Legacy by Finishing His Work on a Documentary About Rare Disease Acute Flaccid Myelitis and Her Own Grief Along the Way with Sarah Potter Sarah Potter's husband Scott got sick and passed away while he was in the middle of creating a documentary about a rare disease called Acute Flaccid Myelitis and the families affected by it. Sarah has immersed herself into film making to finish Scott's documentary, all while working through her grief. The fil...
Feb 09, 2023•27 min•Ep. 173
Intro music by Scott Holmes
Feb 07, 2023•5 min
ONCE UPON A GENE - EPISODE 172 From Cancer Biologist to Rare Disease Mom - Digging Into the Data to Better Understand SCN8A with Madeleine Oudin PhD - Professor of Biomedical Engineering at Tufts Madeleine Oudin is a scientist and Tiampo Family Assistant Professor at Tufts University. Her daughter Margo has two de novo mutations in the SCN8A gene, which causes epilepsy. She's navigating life as a rare, working mom and sharing her knowledge in an understandable and accessible way for other rare p...
Feb 02, 2023•28 min•Ep. 172
ONCE UPON A GENE - EPISODE 171 Never Give Up - Two Decades of Struggles From Diagnosing Their Children to Starting a Clinical Trial For Aspartylglucosaminuria with Rare Mom Julia Taravella Julia Taravella is a mom to two adult children, Alexander and Daniel, and she's the founder of the Rare Trait Hope Fund. Julia's sons didn't have a diagnosis for 16 years until she went above and beyond to seek out answers and use the genetic data available to her to reveal a diagnosis of Aspartylglucosaminuri...
Jan 26, 2023•53 min
Intro music by Scott Holmes
Jan 24, 2023•5 min
ONCE UPON A GENE - EPISODE 170 A Rare Collection - New Beginnings There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Noelle When your child has a progressive, degenerative disease, you learn that every moment is precious and to roll with the punches. My son Logan has a rare genetic disorder called Sanfilippo Syndrome, a progressive and ...
Jan 19, 2023•17 min•Ep. 170
ONCE UPON A GENE - EPISODE 169 Happiness Is Meant to Be Shared with Author, Storyteller, and NEMO dadvocate Andrés Treviño Andrés Treviño is a dadvocate, author and storyteller. His story is full of twists and turns and even moving across countries to save his child. I had the pleasure of meeting him in person at the Global Genes Patient Advocacy Summit and I'm thrilled that you get to meet him too, because happiness is meant to be shared. EPISODE HIGHLIGHTS Can you tell us where your story begi...
Jan 12, 2023•58 min•Ep. 169
Intro music by Scott Holmes
Jan 10, 2023•6 min
ONCE UPON A GENE - EPISODE 168 Being Brave, Curious and Motivated to Help Make a Difference with DLG4 Research Mama Payal Patel I met Payal Patel at the 2022 Global Genes Patient Advocacy Summit. She's digging in and getting things done, she really impresses me and you have to meet her. You'll definitely be seeing more of this rare mom. EPISODE HIGHLIGHTS What led up to your attendance at the Global Genes conference last year? My daughter was diagnosed with a rare disease in July 2022. I had jus...
Jan 05, 2023•31 min•Ep. 168
ONCE UPON A GENE - EPISODE 167 Care Team Prescription - The Importance of Clinical Pharmacists with Chase Palmer Chase Palmer is a pharmacist on the board of Alström Syndrome International. In rare disease, we need all the help we can get, and he's motivated and he's jumped right in to share his voice. He’s been dubbed the rare disease pharmacist– and I think it’s going to stick. EPISODE HIGHLIGHTS Can you introduce yourself and tell us how you became involved in rare disease as a pharmacist? In...
Dec 29, 2022•28 min•Ep. 167
Intro music by Scott Holmes
Dec 27, 2022•3 min
ONCE UPON A GENE - EPISODE 166 A Focus On Patient Advocacy - Participation In Research and the Importance of an Engaged Patient Advocacy Group with Wendy Kay Chung, MD Dr. Wendy Kay Chung cares deeply about rare kids and has a profound purpose to make this world a better place. She talks with us about a lot of critical topics helpful for patient advocacy groups working to push things forward and getting things organized. You're going to learn a lot, so be sure to share this episode far and wide....
Dec 22, 2022•36 min•Ep. 166
ONCE UPON A GENE - EPISODE 165 A Rare Collection - Holiday Cheer There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. EPISODE HIGHLIGHTS Jessica Johnson I love holiday cookies, parties, and gift-giving, but my best source of holiday cheer is my son. He is the definition of festive and his excitement is infectious, inspiring feelings of cheer and joy. While ...
Dec 15, 2022•18 min•Ep. 165
Intro music by Scott Holmes
Dec 13, 2022•4 min
