Tres generaciones. Un gen. Una enfermedad rara de la que no pudo escapar.
«Soy consciente de que soy especial»: el podcast de phaware® «
», episodio 578 — Dawn Ogden
Dawn Ogden ha vivido toda su vida adulta a la sombra de la hipertensión pulmonar. Tras perder a su hermana y ver cómo su padre luchaba contra la enfermedad, Dawn descubrió que era genética… y que ella misma era portadora. Lo que siguió fue toda una vida de pruebas, miedo y decisiones imposibles, al enfrentarse a la realidad de que ese mismo gen podría condicionar el futuro de sus hijos.
Why the Clues to Pulmonary Hypertension Start Before Birth
I’m Aware That I’m Rare: the phaware® podcast
Episode 562 - Ripla Arora, PhD
When Ripla Arora first studied TBX4 as a young PhD student, no one imagined this gene held secrets to life-threatening lung diseases. Now, years later, her early work is the foundation of a global effort to unlock the fetal origins of pulmonary hypertension.
Cracking the Code: How Genetics Is Rewriting Neonatal Medicine
I’m Aware That I’m Rare: the phaware® podcast
Episode 561 - Jeffrey Whitsett
Dr. Jeffrey Whitsett reflects on five decades in neonatal care, tracing the evolution from limited support for preemies to today’s cutting-edge genetic discoveries. Discover how rare gene mutations like TBX4 are reshaping our understanding of lung development and why collaboration with families is key to the next era of life-saving treatments.
From Knee Pain to Gene Discovery: One Family’s Unexpected Diagnosis
I’m Aware That I’m Rare: the phaware® podcast
Episode 560 - Luke Stockdale
What started as routine investigations into hereditary knee problems turned into a life-altering discovery for Luke Stockdale and his family - a TBX4 gene mutation linked to pulmonary arterial hypertension (PAH). In this episode, Luke shares how his mother’s journey through years of respiratory care led to a rare diagnosis, and how it’s changed the course of his entire family’s future. With candor and urgency, he discusses the emotional weight of genetic testing, the inconsistencies in clinical care, and his mission to advocate for early detection and standardized monitoring.
How a Global Team Is Rewriting the TBX4 Playbook
I’m Aware That I’m Rare: the phaware® podcast
Episode 559 - Matina Prapa, MD, PhD and Olivier Danhaive, MD
Rare diseases thrive in isolation. TBX4Life is changing that. In this episode, Drs. Prapa and Danhaive share how international collaboration is creating real-time change for patients. From newborn screening to natural history studies to rethinking how we talk about genetic testing, they’re helping create a roadmap to a cure.
One Dad’s Mission to Cure His Son’s Genetic Disease
I’m Aware That I’m Rare: the phaware® podcast
Episode 558 - Anton Morkin
When Anton Morkin’s son was diagnosed with “idiopathic” pulmonary hypertension, he refused to accept “no known cause” as an answer. What followed was a crash course in genetics, the discovery of a rare mutation, and the formation of a worldwide coalition, TBX4Life.
How TBX4Life Is Fueling a Global Collaboration
I’m Aware That I’m Rare: the phaware® podcast
Episode 544 - LaRae Hacker
LaRae Hacker never set out to become a rare disease advocate — but when her daughter’s TBX4 diagnosis left her feeling helpless, she found power in connection. Discover how TBX4Life became her anchor in uncertainty and why she believes parent-led advocacy is the key to progress in rare disease research.
Before PAH Strikes: Why Early Detection Could Change Everything
I’m Aware That I’m Rare: the phaware® podcast
Episode 514 - Eric Austin, MD, MSCI
Eric Austin, MD, MSCI discusses early detection among people who are at risk of pulmonary arterial hypertension (PAH), particularly those who would have genetic susceptibility, or who may have congenital heart disease, or who may have connective tissue disease or other features that would make them more at risk of developing pulmonary arterial hypertension than the rest of the population.