Once Upon A Gene
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, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.
Autor: Effie Parks
324
Episodios
28 min 21 sec
Duración Promedio
Inglés
Idioma
Duración Total:
153 hr 9 min
Último Episodio: Preconception & Prenatal Genetic Testing 101: A Conversation with Genetic Counselor, Natalie Richheimer
In this episode, I sit down with Natalie Richheimer, a genetic counselor at JScreen, to dig into the world of preconception and prenatal genetic testing. We explore the basics of carrier screening, how to interpret results, and the importance of genetic counseling for both new and experienced parents—especially those who already have a child with a rare disease. Natalie also sheds light on Variants of Uncertain Significance (VUS) and offers insight into talking with family members about genetic risks and results. Throughout our chat, Natalie emphasizes that knowledge truly is power when it comes to family planning and navigating the complexities of genetic information. We discuss strategies for deciding between natural pregnancy, IVF with genetic screening, and other alternatives, helping you feel more confident and informed about your options. Whether you’re just beginning your journey or seeking clarity in the midst of it, this episode offers valuable perspectives and heartfelt …
Publicado: 16 de enero de 2025 | Duración: 42 min
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Preconception & Prenatal Genetic Testing 101: A Conversation with Genetic Counselor, Natalie Richheimer
16 Ene, 2025In this episode, I sit down with Natalie Richheimer, a genetic counselor at JScreen, to dig into the world of preconception and prenatal genetic testing. We explore the basics of carrier screening, how to interpret results, and the importance of …
Duración: 42 minTransforming Pediatric Rare Disease Research: Dr. Ramin Eskandari on Neurosurgery, Biorepositories, and Empowering Families and Medical Teams to Save Residual Samples
09 Ene, 2025Show Notes: Transforming Pediatric Rare Disease Research with Dr. Ramin Eskandari In this episode, I’m joined by Dr. Ramin Eskandari, a pediatric neurosurgeon at MUSC who is revolutionizing rare disease research through his innovative work with biorepositories. Dr. Eskandari shares …
Duración: 39 minEight Years of Searching: A Determined Family’s Quest to Cure an Ultra-Rare CLCN6 Mutation with Kristin & Paul Purdy
02 Ene, 2025Links & Resources: Follow Their Journey on Social Media Facebook: Paxtons Pioneers Instagram: Paxtons_Pioneers KCAL News Story Watch the in-depth feature on their family’s advocacy here: KCAL Rare Disease Coverage
Duración: 31 minChasing Glimmers - From Grief to Glitter: Parenting Through Infantile MLD and Embracing Life’s Full Spectrum - with Megan Gillet
19 Dic, 2024Chasing 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 …
Duración: 36 minThe Gift of Grace: A Holiday Heart-to-Heart for Caregivers
12 Dic, 2024Dear Friends, The holidays can be a beautiful time of connection, joy, and celebration—but for caregivers, it can also be a season that amplifies the weight we carry every day. The expectations, the comparisons, the logistics of making life work …
Duración: 10 minGrateful Reflections for Epilepsy Awareness Month: Parents Share Love, Lessons, and Insights from the Dravet Syndrome Community
27 Nov, 20242024 DSF Biennial Family & Professional Conference June 20th to June 22nd. This three-day gathering united all those committed to improving the lives of individuals with Dravet syndrome – including families, caregivers, clinicians, researchers, and biopharmaceutical professionals. It provided a …
Duración: 2 hr 36 minReady for Take Off: Mission for Accessible Air Travel & Disability Advocacy, with Mindy Henderson
14 Nov, 2024Episode Highlights: Mindy Henderson, a powerful advocate for disability rights and the Director & Editor-In-Chief of MDA's Quest Media. Mindy shares her journey of breaking barriers in the skies, working tirelessly to make air travel more accessible for wheelchair users …
Duración: 37 minThe Unique Expertise of a Genetic Counselor - Helping Rare Disease Individuals and Families Navigate Through Complex Emotions and Circumstances Like Guilt, Grief, and Shame with Mary-Frances Garber
31 Oct, 2024ONCE UPON A GENE - EPISODE 133 The Unique Expertise of a Genetic Counselor - Helping Rare Disease Individuals and Families Navigate Through Complex Emotions and Circumstances Like Guilt, Grief, and Shame with Mary-Frances Garber Mary-Frances Garber is a Genetic …
Duración: 40 min
