As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bond ...
…
continue reading
“The Women Who Saved History” is a monthly 30-60 minute podcast focused on telling the stories of the many women who have dedicated their lives to preserving the history of the Silver State. Currently, there have been 20 women throughout the state that we have identified, including eight deceased women. Many of our historical institutions are the outcome of their work. Acknowledging these women has long been overdue. We are excited to celebrate them and their accomplishments with our first p ...
…
continue reading
Because of My Podcast spotlights the achievements people are achieving. Things that only happened because they started a podcast.
…
continue reading
Rare Voices reveals the wisest path to a fulfilled life for patients with rare and orphan disorders. Brought to you by the people at Optime Care, a pioneering specialty pharmacy. In each episode, we uncover insights from patient advocates, pharmaceutical innovators, leaders in insurance, physicians, and caregivers. Prepare to provoke your mind and fuel your drive to serve rare and orphan patient populations.
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections
16:48
16:48
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
16:48
ONCE UPON A GENE - EPISODE 242 Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections I've been seeing so many online conversations around friendships lately and we've all experienced a ghost ship of friends or people who disappeared or didn't show up for us as we came into the rare disease world. It's an …
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Chasing Glimmers - Whats Glimmering with Katie Lloyd
31:24
31:24
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
31:24
ONCE UPON A GENE - EPISODE 241 Chasing Glimmers - What's Glimmering with Katie Lloyd Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the incredible power of connection, bravery and positivity.…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Jean Ford: Nevada’s Original Women’s History Champion
1:00:47
1:00:47
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
1:00:47
Imogene Evelyn Young Ford, affectionately known as Jean, was a key figure in preserving Nevada's cultural and historical legacy. As a volunteer, citizen activist, and state senator, her deep commitment to safeguarding the Silver State's heritage made her instrumental in documenting and protecting its history for future generations. Through her exte…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She
34:06
34:06
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
34:06
ONCE UPON A GENE - EPISODE 240 A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She Yiwei She is a powerhouse mom to little Leo, the Founder of the TNP02 Foundation, a remarkable and brilliant advocate, and she's nothing short of extraordinary. EPISODE HIGHLIGHTS Can you tell us about Leo's diagnostic journey …
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster
46:55
46:55
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
46:55
ONCE UPON A GENE - EPISODE 239 Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster Joining me today is my sister, Christy Foster. We're talking about caregiver stress, stress-related pain, how and why it shows up, and how to cope. EPISODE HIGHLIGHTS How does chronic s…
…
continue reading
ONCE UPON A GENE - EPISODE 238 Where the Glimmers Can Surface We were at our beloved park— the one we helped renovate to be inclusive and accessible, then made a trip to a nearby grocery store nearby. Ford loves automatic doors. The grocery store has the usual automatic doors at the entrance, but also has big black swinging doors at the rear of the…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Join Us for The Global Genes Week In Rare
6:52
6:52
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
6:52
ONCE UPON A GENE - EPISODE 237 Join Us for The Global Genes Week In Rare The 2024 Global Genes Week in RARE is happening in Kansas City, MO from September 25-28th. This is a powerhouse week packed with three incredible advocacy events that you can't miss— the Rare Equity Forum, the Rare Advocacy Summit and the Rare Champions of Hope Awards ceremony…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Anna Dean Kepper: Innovative Las Vegas Historic Preservationist and UNLV Special Collections Curator
29:05
29:05
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
29:05
In this episode of The Women Who Saved History, hosts Claytee White and Su Kim Chung speak with Dennis McBride about Anna Dean Kepper’s remarkable accomplishments in preserving Nevada’s history, including her efforts to archive local historical documents in UNLV Special Collections and promote the significance of historical preservation. Kepper als…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer
30:40
30:40
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
30:40
ONCE UPON A GENE - EPISODE 236 Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer Charles River Labs is a rare disease research and drug development powerhouse and their work leads to life-changing treatments. I'm joined by Roxana Redis and David Fischer to talk about Charles River Labs’ support, rare disea…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein
37:15
37:15
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
37:15
ONCE UPON A GENE - EPISODE 235 Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein My guest, Craig Klein, has been living with Neuromyelitis Optics Spectrum Disorder (NMOSD) for 8 years. He shares his challenges, strengths and about his journey of resilience. EPISODE HIG…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd
44:52
44:52
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
44:52
ONCE UPON A GENE - EPISODE 234 Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd This new series, Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare …
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing
8:42
8:42
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
8:42
ONCE UPON A GENE - EPISODE 233 Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing LINKS AND RESOURCES MENTIONED Project Findout https://projectfindout.org/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://ww…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Anna Roberts Parks, The Nurturer with a Backbone - Businesswoman, Mortician and Collector
24:58
24:58
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
24:58
Did you know that the foundation of Nevada's historical preservation was laid by a woman who started with a general store and a passion for collecting? In today’s episode, host Claytee White and scholar Su Kim Chung interview Amber Colbert, the Clark County Museum Administrator, about the remarkable contributions of Anna Roberts Parks. Anna's journ…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC
27:36
27:36
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
27:36
ONCE UPON A GENE - EPISODE 232 Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC Abby Turnwald is a genetic counselor here to talk about genetic testing and the crucial role genetic counselors play in guiding families through the complexity…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
The Power of Genetic Diagnosis - More Than Just a Label
11:48
11:48
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
11:48
De către Effie Parks
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Dr. Effie Mona Mack - Pioneering Nevada Historian, Educator, and Author
34:22
34:22
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
34:22
In today’s episode, we explore the work, life, and legacy, of Dr. Effie Mona Mack, a prolific writer, celebrated historian, and beloved teacher. We are joined by Patti Bernard, a former history teacher and WCSD principal, who, in 2015 was chosen as the Nevada Women’s History Project’s (NWHP) honoree for Woman of Achievement. Our host for today’s ep…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick
36:55
36:55
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
36:55
ONCE UPON A GENE - EPISODE 230 Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick Nikki Stusick is the mom of a child with an initial VUS diagnosis and then a different pathogenic diagnosis. We talk about the complexities of balancing advocacy work, family life, when to choose one…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber
35:10
35:10
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
35:10
ONCE UPON A GENE - EPISODE 229 Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber Frances Muenzer Pimentel and Sophia Zilber have united the Hope for PDCD Foundation and the Cure Mito Foundation to launch a global joint…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Episode 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breakthroughs, and the Every Cure Initiative with Dr. David Fajgenbaum
51:51
51:51
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
51:51
ONCE UPON A GENE - EPISODE 228 Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David Fajgenbaum Dr. David Fajgenbaum is is a groundbreaking physician-scientist, disease hunter, speaker, and national bestselling author of Chasing My Cure: A Doctor's Race to Turn …
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Bringing Balance Back to the Language of Disability from The Special Needs Mom Podcast with Kara Ryska
51:53
51:53
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
51:53
Connect with Kara, host of The Special Needs Mom Podcast: Instagram: https://www.instagram.com/thespecialneedsmompodcast/ Website: https://www.kararyska.com/ Coaching Opportunities Pathway to Peace {Group Coaching Program}: Schedule a Consult or Contact Me Join The Special Needs Mom Podcast Community FaceBook Group!! Click here to Request to Join…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Jeanne Wier’s Trailblazing Legacy of Preserving Nevada’s History
30:45
30:45
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
30:45
During this episode, we celebrate the legacy of Jeanne Wier in preserving Nevada’s history. Joining us to unpack her impact on chronicling Nevada’s history is Su Kim Chung, Head of Special Collections and Archives Public Services at the University of Nevada Las Vegas. Interviewing her is Claytee White, a Women of Diversity Productions Inc Board Dir…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott Copeland
45:12
45:12
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
45:12
ONCE UPON A GENE - EPISODE 226 From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott Copeland Jillian and Scott Copeland are husband and wife, advocates and pioneers who have transformed their personal journey of having a child diagnosed with epilepsy.…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman
46:33
46:33
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
46:33
ONCE UPON A GENE - EPISODE 225 The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman Noah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a devastating disease that leads to childhood dementia and premature death. He joins me to talk about his sibli…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed
28:47
28:47
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
28:47
ONCE UPON A GENE - EPISODE 224 The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed Advocate, rare mom and Founder of SLC6A1 Connect, Amber Freed joins me to talk about ICD-10 codes— the frustrations, the battles, and the common-sense changes we're fighting for in the rare disease community that are pivotal t…
…
continue reading
Welcome to the introductory episode of The Women Who Saved History podcast, a special series that celebrates the hard work of Nevada women who have made noteworthy contributions to preserving our state’s history. This podcast is produced by Women of Diversity Productions Inc., a nonprofit organization dedicated to enriching women's lives and, conse…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio
51:20
51:20
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
51:20
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 …
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Krabbe Disease with Kasey Feldt
29:20
29:20
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
29:20
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. EPISO…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay
38:03
38:03
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
38:03
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. EPISO…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action
17:01
17:01
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
17:01
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 beginnin…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini
43:25
43:25
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
43:25
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 Clinic…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child
53:26
53:26
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
53:26
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 …
…
continue reading
![Artwork](/static/images/128pixel.png)
1
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
51:07
51:07
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
51:07
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 uniq…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Uniting Science and Hope - COMBINEDBrain and it's Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell
55:26
55:26
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
55:26
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 fo…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
A Rare Collection - Five Advocacy Aces Share Their Conference Commandments
39:56
39:56
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
39:56
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 d…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay
43:00
43:00
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
43:00
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, Sou…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford
34:24
34:24
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
34:24
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…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari
41:00
41:00
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
41:00
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 abo…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Finding Strength In Every Step
17:36
17:36
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
17:36
De către Effie Parks
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Pain Points on the Disorder Channel with Daniel DeFabio and Bo Bigelow -This Festivus, Let the Airing of Grievances Begin
11:56
11:56
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
11:56
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/diso…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia
49:03
49:03
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
49:03
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 organi…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka
45:12
45:12
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
45:12
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, shedd…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies
40:45
40:45
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
40:45
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 shak…
…
continue reading
Background Music Credits: Title: Sensual Folk 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/…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Breaking Barriers in Brain Health with Tracy Dixon-Salazar, PhD
52:27
52:27
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
52:27
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 a…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping - Schuetz
44:20
44:20
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
44:20
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 t…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Palliative Care & the Courageous Parent Network with Founder Blyth Lord
40:45
40:45
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
40:45
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 go…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
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
42:11
42:11
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
42:11
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 mo…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman
28:26
28:26
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
28:26
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 e…
…
continue reading
![Artwork](/static/images/128pixel.png)
1
From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong
55:11
55:11
Redă mai târziu
Redă mai târziu
Liste
Like
Plăcut
55:11
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 disord…
…
continue reading
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/De către Effie Parks
…
continue reading