Once Upon A Gene

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...

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 to...

Intro music by Scott Holmes

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 Glo...

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 HIGHLIGH...

Intro music by Scott Holmes

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 g...

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 th...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 164 The Clinical Pharmacist - Why They Are A VIP For Our Care Team and How We Can Get to Know Them - With NARS1 Rare Disease Mom - Rachel Heilmann Rachel Heilmann is a rare mom and founder of The Rory Belle Foundation, which was started in honor of her daughter who had NARS1. She's also a clinical pharmacist on a mission to make a difference for our kids and advocate for...

ONCE UPON A GENE - EPISODE 163 How Far We've Come - A Look at the FOXG1 Research and Family Conference with Rare Mama and Co Founder Nicole Johnson FOXG1 Research Foundation Co-Founder and rare mom, Nicole Johnson, shares takeaways from the November FOXG1 Syndrome Science Symposium & Parents Conference.  EPISODE HIGHLIGHTS Can you tell us about your daughter Josie and about starting the FOXG1 Foun...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 162 Your Career and Personal Life Collide - Senior Vice President, Head of Development and Safety of Alexion, AstraZeneca and Smith Magenis Rare Disease Dad Gianluca Pirozzi Gianluca Pirozzi is a dadvocate and Senior Vice President, Head of Development and Safety at Alexion, AstraZeneca. His daughter has Smith Magenis syndrome.  EPISODE HIGHLIGHTS What is your connection...

ONCE UPON A GENE - EPISODE 161 A Rare Collection - Beep Beep Beep 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 Brittany Stineman Emergency vehicles headed towards us and the sound of the vehicles coming to save my child's life play...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 160 A Mom's Advocacy For Her Son Who Has Hemophilia B Led to Her Own Diagnosis - With Stormy Johnson Stormy Johnson has a son diagnosed with hemophilia. She was told she was just a carrier for the disorder. This assumption, born from the fact that mostly men are diagnosed with hemophilia, meant she didn't have answers for symptoms that were plaguing her. Other hemophilia...

ONCE UPON A GENE - EPISODE 159 Social Security Disability Revealed - Why It's So Hard to Access Benefits and What You Can Do About It with Spencer Bishins Spencer Bishins has a Master's degree in economics and a law degree, but after working for SSA for more than 10 years, he shifted his expertise to demystifying the complicated disability system. His first book, Social Security Disability Reveale...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 158 Medical Student - Urvi Gupta Joins the Global Genes Rare Compassion Program with Alexions Patient Advocacy Champion Wendy Erler Wendy Erler is passionate about the caregiver and patient voice being at the forefront of her work at Alexion Pharmaceuticals. Urvi Gupta is a second year medical student, working with the rare disease community to shape her professional pat...

ONCE UPON A GENE - EPISODE 157 Episode 157 - The Effects of Rare Disease on Relationships and How to Cope When You and Your Partner Have Different Strategies with KCNH1 Founder and Rare Mama Michaelle Jinnette Michaelle Jinette is a wife and the mom to four boys. Her last son was born with a rare disease and she started a foundation to find and help create a therapy for kids with KCNH1 related dis...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 156 A Rare Collection - Batten Down the Hatches 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 My best friend- Kelly Vandewerker Prior to 2015, I lived a life unaffected by rare disease. When Effie became p...

ONCE UPON A GENE - EPISODE 155 CRELD1 Dadvocate Paying the Ultimate Price - Seeking Diagnosis for His Two Children, and Raising Awareness with Adam Clatworthy Adam Clatworthy is a passionate advocate and blogger with a focus on the importance of the caregiver voice and how much expertise we, as parents, caregivers and patients bring to the table.  EPISODE HIGHLIGHTS Can you tell us about your fami...

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 154 A Groundbreaking Gene Therapy In Record Time to Cure His Son with SPG50 Sets a New Course For Future Rare Disease Treatments with Terry Pirovalakis Terry Pirovolakis is a rare disease crusader and father to Michael, who has SPG50. He made a gene therapy for his son in only 18 months. The work he has done will also transform the way rare diseases are treated. He's hos...