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 possibilities...
Nov 30, 2023•41 min•Ep. 209
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/
Nov 23, 2023•6 min•Ep. 208
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 rare dise...
Nov 16, 2023•52 min•Ep. 207
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 where you...
Nov 09, 2023•44 min•Ep. 206
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 HIGHL...
Nov 04, 2023•41 min•Ep. 59
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 now wh...
Nov 04, 2023•42 min•Ep. 123
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 of it? ...
Nov 02, 2023•28 min•Ep. 205
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 she co...
Oct 26, 2023•55 min•Ep. 204
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/
Oct 24, 2023•4 min
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 strength. W...
Oct 19, 2023•1 hr•Ep. 203
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 about ...
Oct 12, 2023•33 min•Ep. 202
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. Create spo...
Oct 05, 2023•40 min•Ep. 201
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/
Oct 03, 2023•4 min
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 three ...
Sep 28, 2023•32 min•Ep. 200
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 HIGHLIGHTS Ho...
Sep 21, 2023•46 min•Ep. 199
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/
Sep 19, 2023•5 min
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 shines. ...
Sep 14, 2023•44 min•Ep. 198
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 I foun...
Sep 07, 2023•48 min•Ep. 197
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/
Sep 05, 2023•9 min
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 would be...
Jul 27, 2023•21 min•Ep. 196
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 of his...
Jul 20, 2023•35 min
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 personal ...
Jul 13, 2023•38 min•Ep. 194
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 Mexico an...
Jul 06, 2023•49 min•Ep. 193
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-quiero...
Jun 22, 2023•24 min•Ep. 192
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 rare disea...
Jun 15, 2023•17 min•Ep. 191
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 was diag...
Jun 08, 2023•39 min•Ep. 190
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 took th...
Jun 01, 2023•38 min•Ep. 189
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. They are...
May 25, 2023•44 min•Ep. 188
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/
May 23, 2023•5 min
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 could t...
May 18, 2023•19 min•Ep. 187
