Once Upon A Gene

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...

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...

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 chil...

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/

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'...

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 simi...

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...

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 pu...

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 p...

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 mech...

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/

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...

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, e...

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....

  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/

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 p...

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 t...

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/

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 medic...

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...

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/

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...

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...

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 syndrom...

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. E...