Once Upon A Gene

Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio

ONCE UPON A GENE - EPISODE 223 Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio Ilene Miller and Christina SanInocencio are advocates doing groundbreaking work at the Rare Epilepsy Network (REN), a volunteer network of epilepsy organizations banding together, sharing research efforts, and improving the lives of rare epilepsy patients and families. They're here to share about the inception and mission of REN and the resources available through membership. EPISODE HIGHL...

Krabbe Disease with Kasey Feldt

ONCE UPON A GENE - EPISODE 222 Krabbe Disease with Kasey Feldt Kasey Feldt is the mom of two- one year old Lukas and Dawson, who passed away from Krabbe disease. Kasey has become a passionate and unstoppable advocate, not only advocating for Krabbe disease, but also the newborn screening system so kids have a better chance at early detection.   EPISODE HIGHLIGHTS Can you tell us about yourself and your rare disease journey? My son Dawson was diagnosed with Krabbe disease. He was born a hea...

BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay

ONCE UPON A GENE - EPISODE 221 BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay I'm joined by Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay to discuss BeginNGS, a ground-breaking initiative that stands at the forefront of genetic sequencing and rare disease diagnosis.  EPISODE HIGHLIGHTS What led to the creation of BeginNGS? Rare genetic diseases are an immense health ecosystem challenge- receiving a timely diagnos...

A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action

ONCE UPON A GENE - EPISODE 220 A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action 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 Katie Scheid The beginning of my care-giving journey was filled with trauma, disbelief and a complete re-shaping of the life I knew. My daughter Millie is three and a ha...

Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini

ONCE UPON A GENE - EPISODE 219 Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini Amanda Pichini is a genetic counselor from Genomics England, here to share their initiatives and mission.  EPISODE HIGHLIGHTS What is your role at Genomics England and how did your career develop? I work at Genomics England as the Director of Clinical Implementation and I'm responsible for the strategic clinical leadership for our products and services, ensuring research, diagnostics and cl...

James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child

ONCE UPON A GENE - EPISODE 218 James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child James Robinson is a dad and the author of More Than We Expected: Five Years With a Remarkable Child, a deeply moving book and a testament to the strength found in vulnerability, the importance of community and the boundless love that families share in the face of adversity.  EPISODE HIGHLIGHTS Can you tell us about your family and what inspired your book? My wife and I have th...

More of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie Reade

ONCE UPON A GENE - EPISODE 184 More of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie Reade Janie Reade is an author and mom to three adult sons, one with a severe neurodevelopmental disorder caused by a mutation in the SYNGAP1 gene. We'll talk about her unique perspective as a parent and also about her book, More of Everything: How I Became a Better Parent to My Child with Extreme Special Needs by Lif...

Uniting Science and Hope - COMBINEDBrain and it's Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell

ONCE UPON A GENE - EPISODE 217 Uniting Science and Hope - COMBINEDBrain and its Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell Terry Jo Bichell is a rare mom, neuroscientist and the founder of COMBINEDBrain, a nonprofit organization revolutionizing the approach to clinical treatments for rare genetic neurodevelopmental disorders by pooling efforts, studies and data.  EPISODE HIGHLIGHTS Can you share a little bit about yourself ...

Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay

ONCE UPON A GENE - EPISODE 216 Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay Matt Hay has a disorder called Neurofibromatosis type 2 (NF2) and how he has more than overcome the challenges that came with it— he has thrived because of it. He is the author of a new book, Soundtrack of Silence: Love, Loss, and a Playlist for Life.  EPISODE HIGHLIGHTS Can you talk about the inspiration for your book? NF2 causes tumors...

Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford

ONCE UPON A GENE - EPISODE 215 Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford Emily Crawford left her lifelong dream job of being a teacher to surrender to the demands of care-giving. She joins me to discuss identity loss and metamorphosis after becoming a parent to a medically complex child.  EPISODE HIGHLIGHTS Can you tell us about your family? I have four children— Chloe is my middle child. The first eight years of ...

A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari

ONCE UPON A GENE - EPISODE 214 A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari Anne Rugari is an advocating powerhouse, an author of two children's books, a mom, and two of her children have passed away from Krabbe disease. She joins us to share her personal story and also share her knowledge about tissue and organ donation. EPISODE HIGHLIGHTS Can you share how you became part of the rare disease world? In 1986, my second child Nick rece...

Finding Strength In Every Step

Pain Points on the Disorder Channel with Daniel DeFabio and Bo Bigelow -This Festivus, Let the Airing of Grievances Begin

ONCE UPON A GENE - EPISODE 212 Special pop up episode from our friends Daniel DeFabio and Bo Bigelow from the Disorder Channel - Pain Points https://www.rarediseasefilmfestival.com/ www.thedisordercollection.com https://www.facebook.com/rarediseasefilmfestival https://www.instagram.com/disorderrarediseasefilms/ https://www.linkedin.com/company/disorder-the-rare-disease-film-festival/ DISORDER: The Rare Disease Film Festival

The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia

ONCE UPON A GENE - EPISODE 211 The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia Rare disease parents and front line advocates, Kim Nye and Mike Graglia, join this episode for a discussion about the unseen struggles of rare disease parenthood and the delicate balance of operating an advocacy organization. EPISODE HIGHLIGHTS Kim, can you share your perspective on how much work it is to lead an advocacy organization and the impact it has on...

GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka

ONCE UPON A GENE - EPISODE 210 GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka If you're passionate about the evolving landscape of genetic testing, this episode is for you. Gay Grossman, Patient Advocacy & Engagement Lead, and Paul Kruszka, Chief Medical Officer, are a wealth of knowledge and bring so much experience, shedding light on the crucial work being done at GeneDX.  EPISODE HIGHLIGHTS What is the importance and benefits of genetic testing? The most obvious...

A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies

ONCE UPON A GENE - EPISODE 209 A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies I'm joined by two new, rare moms, Emily and Katie, to discuss the topic of having additional children after you've had a child with a rare disease.  EPISODE HIGHLIGHTS How did your experience with your first born children's genetic conditions shake your hopes and fears about having a second child?  Once you connect with the rare disease world and learn about all of the rare disease possi...

Breaking Barriers in Brain Health with Tracy Dixon-Salazar, PhD

ONCE UPON A GENE - EPISODE 207 Breaking Barriers in Brain Health with Tracy Dixon-Salazar, PhD For Epilepsy Awareness Month, I am joined by Tracy Dixon-Salazar, a rad scientist-mom and patient advocate. Her adult daughter Savannah was diagnosed with LGS as a child and in this episode, Tracy shares her best advice for advocating for your child and also the wisdom she's learned along the way if you're a parent with a new diagnosis.  EPISODE HIGHLIGHTS Can you share about yourself and your ra...

Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping - Schuetz

ONCE UPON A GENE - EPISODE 205 Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping-Schuetz Lindsey Topping-Schuetz is a parent to seven-year-old Owen, who has cri-du-chat syndrome, also known as 5p-. Lindsey focuses her advocacy work on government policy and she joins me to share her tips and advice if you want to get involved in similar advocacy efforts.  EPISODE HIGHLIGHTS Can you tell us about yourself, your son Owen and wh...

Palliative Care & the Courageous Parent Network with Founder Blyth Lord

The Once Upon a Gene Merch Shop is open for pre-orders through December 6th. Check out the new products added to the shop before it’s too late! Blyth Lord is the Founder of the nonprofit, Courageous Parents Network, an educational platform that orients, empowers and accompanies families caring for children with a serious illness. The mission and goals of Courageous Parents Network originated from Blyth's experience of parenting her daughter diagnosed with Tay-Sachs at 6 months old. EPISODE HI...

Figuring Out How to Infuse Meaning in the Days After the Loss of a Child and the Daunting Task of What the Hell to do Now with Liz Morris

ONCE UPON A GENE - EPISODE 123 Figuring Out How to Infuse Meaning in the Days After the Loss of a Child and the Daunting Task of What the Hell to do Now with Liz Morris Liz Morris is a guest blogger on the Courageous Parents Network and a fellow Seattle rare mom who lost her son Colson to mitochondrial disease in 2020.  EPISODE HIGHLIGHTS In your most recent blog, you spoke about obligation and purpose. How has your obligation as Colson's mom and as his full time caregiver changed as a mom...

Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman

ONCE UPON A GENE - EPISODE 205 Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman Jennifer Siedman is a relatable, rare mom who has a lot of experience with rare disease. She is the Director of Community Engagement at the Courageous Parents Network and joins us to share her approachable strategies for engaging with friends and acquaintances as a rare parent or caregiver. EPISODE HIGHLIGHTS What is the supermarket answer and what is the origin o...

From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong

ONCE UPON A GENE - EPISODE 204 From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong When doctors diagnosed her two sons, Christopher and Patrick, with Duchenne in 1984, Pat didn’t accept “there’s no hope and little help” as an answer. Pat immersed herself in Duchenne, working to understand the pathology of the disorder, the extent of research investment and the mechanisms for optimal care. Her sons lost their battle with Duchenne in their teenage years, but sh...

Effisode - The Irony of it All

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 License: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

These Two Rare Disease Parents Never Met Until Now and Have Everything In Common - Chronic Compassion Chronicles with Kim Gilsdorf and Daniel DeFabio

ONCE UPON A GENE - EPISODE 203 These Two Rare Disease Parents Never Met Until Now and Have Everything In Common - Chronic Compassion Chronicles with Kim Gilsdorf and Daniel DeFabio Rare disease parents, Kim Gilsdorf and Daniel DeFabio, join me for a deeply emotional and thought-provoking conversation about grief. They both lost their sons, both named Lucas and they've shared much of the same rare disease journey with countless moments of emotions, challenges and unexpected moments of strengt...

Utilizing Child Life Specialists - Empowering Rare Disease and Medically Complex Families in Hospitals Nationwide with Child Life On Call Founder - Katie Taylor

ONCE UPON A GENE - EPISODE 202 Utilizing Child Life Specialists - Empowering Rare Disease and Medically Complex Families in Hospitals Nationwide with Child Life On Call Founder - Katie Taylor Katie Taylor is a child life specialist and Founder of Child Life On Call, who is working to close the resource gap through the intersection of child life services and technology. Her mission is to educate, empower and bring rare disease families the support they never knew they needed. We're talking ab...

A Rare Collection - Five Advocacy Aces Share Their Conference Commandments

ONCE UPON A GENE - EPISODE 201 A Rare Collection - Five Advocacy Aces Share Their Conference Commandments EPISODE HIGHLIGHTS Melissa Hioco, STXBP1 DO: Offer a family hospitality room where parents can see the broadcast and stay involved in the conference. Provide sibling spaces and make them feel special.  Spend the extra money to provide a buffet dinner and a kid's buffet with kid-friendly food. Ask for discounts on everything. Find a local AV company who will work within your budget. ...

A Rare Collection - Five Advocacy Aces Share Their Conference Commandments

ONCE UPON A GENE - EPISODE 201 A Rare Collection - Five Advocacy Aces Share Their Conference Commandments EPISODE HIGHLIGHTS Melissa Hioco, STXBP1 DO: Offer a family hospitality room where parents can see the broadcast and stay involved in the conference. Provide sibling spaces and make them feel special.  Spend the extra money to provide a buffet dinner and a kid's buffet with kid-friendly food. Ask for discounts on everything. Find a local AV company who will work within your budget. ...

Effisode - 2023 SynGAP Cannonball for a Cure

  https://www.syngapresearchfund.org/cannonball   https://www.youtube.com/c/ufdtech  Music credits: 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/

Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens

ONCE UPON A GENE - EPISODE 200 Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens Lindsay Stevens is a CTNNB1 mom and a skilled fundraiser who has harnessed her passion and expertise to rally support for CTNNB1 research initiatives. She joins me for a discussion about the art of fundraising and how the smallest efforts can spark profound change. EPISODE HIGHLIGHTS Can you share about yourself and your family? I'm a mom of ...

Navigating Parenthood as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network

ONCE UPON A GENE - EPISODE 199 Navigating as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network Mary McDirmid is a rare mom and Chief Inclusion Officer at Special Abilities Network. She has a passion for advocating for families like ours— families with children who have disabilities and rare diseases. She's here to talk us through the uncomfortable topic of financial and future planning for our rare families.  EPISODE HIGHLIG...

Effisode - The Unconventional Toothfairy

Music Credits: 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/

Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody

ONCE UPON A GENE - EPISODE 198 Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody Yssa Dean DeWoody is an incredible advocate and mom, sharing her journey through the intricate world of rare disease advocacy. She unveils the concept of transitioning between the Valerie side, where medical realities are confronted, and the Marie side, where the personal essence of her daughter shin...

Rare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and Parenthood Challenges with Dadvocate - Ryan Sheedy

ONCE UPON A GENE - EPISODE 197 Rare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and Parenthood Challenges with Dadvocate - Ryan Sheedy Ryan Sheedy is a dadvocate and the Co-Founder of My Mejo. He shares his journey of courage and determination to provide a service for the rare disease community through My Mejo and of being a rare dad.  EPISODE HIGHLIGHTS Can you tell us about your journey as a rare disease dad? My wife and...

Effisode - Summer Camp for Medically Complex Kids

Intro music credited to: 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 License: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

A Rare Collection - Schools Out for the Summer

ONCE UPON A GENE - EPISODE 196 A Rare Collection - School’s Out for the Summer 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 Karen Pratt When school lets out for the summer, it's stressful and I have to prepare in advance because I depend on school care for my sons so I can work. I recently received a call that my son Jack w...

Anecdotes From a Rare Disease Dad of an Adult Son with NR4A2 with Joe Henry

ONCE UPON A GENE - EPISODE 195 Anecdotes From a Rare Disease Dad of an Adult Son with NR4A2 with Joe Henry Joe Henry is a rad dadvocate of an adult son with NR4A2 and he's been around the block a time or two, here to share reflections and stories from his journey, spreading hope to all the parents who feel hopelessness. EPISODE HIGHLIGHTS Can you share about your son and diagnosis journey? My wife and I had some fertility issues and finally had our son Franklin. When he wasn't meeting any ...

A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber

ONCE UPON A GENE - EPISODE 194 A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber Sophia Zilber has 20 years of experience in the pharmaceutical industry and she's a patient registry expert, volunteering her expertise to help the rare disease community in memory of her daughter who died from a mitochondrial disease called Leigh's syndrome.  EPISODE HIGHLIGHTS Can you tell us about yourself and your experience as a rare mom? My pe...

Claudia Gonzaga Jauregui

ONCE UPON A GENE - EPISODE 193 Claudia Gonzaga Jauregui Claudia Gonzaga Jauregui is a brilliant scientist who did her undergraduate studies in genomic sciences, received her PhD in molecular and human genetics and started her own research lab in Mexico where she focuses on rare disease and increasing access for genomic sequencing for patients living with rare disease in Mexico and Latin America. EPISODE HIGHLIGHTS What are the challenges of not having under-represented populations from Mex...

From the Rare Disease Bunker to Many More Birthdays - A Tale of a Gene Therapy that Cures her Daughter with AADC Deficiency - The First Spanish Patient - with Carolina Moreno

ONCE UPON A GENE - EPISODE 192 From the Rare Disease Bunker to Many More Birthdays - A Tale of a Gene Therapy that Cures her Daughter with AADC Deficiency - The First Spanish Patient - with Carolina Moreno Enjoy this presentation by rare disease mom, Carolina Moreno, which she originally shared at the 2023 International CTNNB1 conference held in Spain. LINKS & RESOURCES MENTIONED Ahora sí, te quiero tal como eres / Now yes, I love you as you were https://neret.cat/producte/ahora-si-te-quier...

A Rare Collection - A Father's Day Special - Amidst the Storm

ONCE UPON A GENE - EPISODE 191 A Rare Collection - A Father's Day Special - Amidst the Storm 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 Fares My dad is a fixer by nature. He's watching his grandson struggle with the debilitating aspects of SYNGAP1 and his daughter learning to navigate the heartbreak of being a rar...

SCN8A Rare Mom - The Inch Stone Project and DEE-P Connections - Creating Better Tools, Resources and Research for the Most Severely Affected Families with Gabi Conecker

ONCE UPON A GENE - EPISODE 190 SCN8A Rare Mom - The Inch Stone Project and DEE-P Connections - Creating Better Tools, Resources and Research for the Most Severely Affected Families with Gabi Conecker Gabi Conecker is an incredible advocate who has worked in the rare disease space for over 10 years. She's accomplished a lot, all while caring for her for her son Elliot with SCN8A and a severe variant of epilepsy.  EPISODE HIGHLIGHTS Where does your rare disease journey begin? My son Elliot w...

Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton

ONCE UPON A GENE - EPISODE 189 Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton Jeff Milton is the CEO of La Jolla Labs, a cutting edge RNA therapeutics company that's developing personalized therapeutics for ultra-rare patients. They combine AI, next generation sequencing and RNA biology to generate therapeutics faster.  EPISODE HIGHLIGHTS Can you tell us about yourself and the work you're doing? I've been in RNA therapeutics for 15 years. I ...

How Being a Mom to Twins with a Rare and Undiagnosed Condition Has Shaped Rare Mom, Scientist and Co-Founder of the MAST Genes Research Foundation with Dr. Kim Aldinger

ONCE UPON A GENE - EPISODE 188 How Being a Mom to Twins with a Rare and Undiagnosed Condition Has Shaped Rare Mom, Scientist and Co-Founder of the MAST Genes Research Foundation with Dr. Kim Aldinger Dr. Kim Aldinger is a Seattle Children's scientist that studies how genes influence brain development and how those processes malfunction to cause neurodevelopmental disorders. She's also a mom to rare twins, Chloe and Grayson. EPISODE HIGHLIGHTS Tell us about your twins, Chloe and Grayson. Th...

Effisode - Are We The Actors

Intro Music Credits: 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/

A Rare Collection - Keep Digging

ONCE UPON A GENE - EPISODE 187 A Rare Collection - Keep Digging 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 Angela, Mom to Yiannis with IRF2BPL, a neurodegenerative disorder When Yiannis was born on a Saturday evening in July 2020, we knew immediately that something wasn't right. He was whisked away to the NICU and nobody ...

The Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu

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...

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

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 D...

A Rare Collection - Wishing Well

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, fear...

Effisode - The Ultimate Rare Disease Resource Guide

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/

Doctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Childs KCNT1 Epilepsy with Dadvocate Dr. Justin West

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...