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ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point 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. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich's Ataxia Kyle was diagnosed with Friedreich's Ataxia at age 17. It's a disease that affects balance and coordination and has symptoms of scoliosis, vision loss, hearing loss and life-shortening heart complications. At the time he was diagnosed, he ignored that his future would be much different than what he'd imagined. After a few years, he wanted to take a cross-country bike ride. Kyle reads a page from his book about how he convinced his parents to join him. Jennifer Siedman, Mother to Ben Jennifer loved a little boy with a rare disease called Sanfilippo Syndrome. That boy graced this Earth for 17 years with a big lion roar of a laugh and a gentle heart. He loved farms, tractors, baseball and chocolate donuts. His quiet determination convinced a researcher to pursue a treatment and because of it, there are other children today with Sanfilippo Syndrome who's future might look different than his. Jennifer knows who she is today because she was Ben's mother. Jennifer shares a story of her mother-in-law who, through her own determination, modeled the skills she would need to be the best mother and advocate she could be to Ben. Liz Morris, Mother to Colson The Pacific Northwest is abundantly beautiful. Seattle's true appeal is in it's wild spaces. Carkeek Park in northern Seattle is one of Liz's favorites with organic healing powers she needs. Trails lead through the lush woods, there's an expansive shoreline with built-in driftwood seating and open green hills overlooking the sea and mountains. Liz and her husband sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked of their future. They talked of the future they wanted for their future child, which Liz was six months pregnant with. Colson was born in October 2016. He was impacted by mitochondrial disease, a genetic disorder that compromised his body's ability to turn food into energy. Liz shares a story of living with enough. Ashley Fortney, Mother to Davis In 2014, Ashley welcomed her son Davis into the world after a difficult pregnancy filled with many hospitalizations and much worry. From the start, the doctors thought there might be something different about Davis. Davis was diagnosed with Koolen-de Vries syndrome at age 7, but he's continued to grow, learn and prove that nothing can stop him. Ashley shares all the ways that Davis has helped the family grow and find support from others in the community and all the ways he makes the world a better place. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
On this week's episode, Chris Garabedian, Brad Loncar, Eric Schmidt, Paul Matteis, and Tess Cameron begin by recapping the markets, highlighting the rise in bond yields. The discussion then transitions to the efficiency of the FDA, noting its current overextension. Next, the group addresses an open letter from biotech executives and investors to Senator Bill Cassidy, highlighting the dismissal of key employees important to FDA review processes. Park Marks' dismissal is also revisited, along with the impending threat of pharmaceutical tariffs. Wrapping up the discussion on the FDA, its initiative to replace animal testing is overviewed. The conversation shifts to “zombie” biotechs and ongoing private investment, as evidenced by recent Series A announcements. On the data front, Lexeo's plans to initiate a registrational trial for its gene therapy for Friedreich ataxia, Rhythm's Phase 3 data, and its stock price increase are discussed. The group also reviews the strategies early companies can adopt now that the IPO window has closed. The episode concludes with a review of notable updates from AAN 2025 and ADPD 2025. *This episode aired on April 11, 2025.
Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma and Biotech world.The pharmaceutical industry, traditionally seen as recession-resistant, may face challenges due to Trump's tariffs and the dominance of GLP-1s. Lexeo is moving forward with a gene therapy for Friedreich's ataxia after promising phase I/II data, while Rallybio is pivoting to a new antibody for rare autoimmune disorders. HHS Secretary Robert F. Kennedy, Jr. will not be speaking to the Senate health committee this week as scheduled. In other news, Merida is entering the autoimmune and allergy arena with a $121 million series A funding. Lilly is suing an Indianapolis spa for selling knockoff versions of its migraine drug Zepbound, and biotech shares are affected by the departure of FDA's Marks. Cardiovascular disease is back in the spotlight.
La fundación ALMAR trabaja para conseguir investigación y apoyar a las personas con ataxia de friedreich y sus familias en este proceso. Pilar su fundadora y Marta, su hija con ataxia, nos cuentan como nació la fundación y como es vivir con esta enfermedad en primera mano.
What happens when a teenager asks, “Why are you in a wheelchair?” at the bar... and it's not weird at all? In this episode, Sean and Kyle reflect on what it means to be curious, considerate, and occasionally oblivious when it comes to disability—and why teens might just be winning in the empathy department. From cruise ship conversations to elevator etiquette, we explore how age, culture, and confidence shape the way people react (or don't react) to disability.Then we catch up with our good friend Matt Lafleur—writer, rare disease advocate, and now children's book author! Matt shares how he turned a lonely diagnosis into a meaningful calling, why vulnerability is hard but necessary, and how a red panda named Professor Hong is helping kids understand life with Friedreich's Ataxia. Whether you're in the tunnel or finally seeing the light, this episode is packed with honesty, encouragement, and a few laughs about mystery garbage collectors.Links & ResourcesMatt's Childrens BookMatt's NYT ArticleMatt's ColumnWhat Do You Do With An Idea?
Faced with the rare neurodegenerative condition Friedreich's ataxia, John Cernosek decided to become a patient-advocate and write a book about his healing journey with cannabis. He's currently headed to Las Vegas as an invited guest of the National Ataxia Foundation, where he will present an excerpt from his book at their annual conference. This is a huge step for a conference that has never before addressed the issue. John will also be speaking with the hundreds of patients, caregivers, doctors and researchers who attend the conference and generally spreading awareness via his grassroots advocacy group Cannataxia. I first met John because he's a GMIWH supporter on Patreon, and signed up to do a secret sesh with me over Zoom. As he heads to the desert to spread the good word about medical cannabis, I'm proud to share our original interview from 2023. PATREON Please support Great Moments in Weed HIstory on Patreon. Supporters get exclusive access to video versions of this podcast and private seshes, plus cool rewards like a signed book. And it truly helps us make the best show possible. EPISODE ARCHIVE Visit our podcast feed for 150+ episodes of Great Moments in Weed History, and subscribe now to get a new weekly podcast every Weednesday.
La fundación ALMAR trabaja para conseguir investigación y apoyar a las personas con ataxia de friedreich y sus familias en este proceso. Pilar su fundadora y Marta, su hija con ataxia, nos cuentan como nació la fundación y como es vivir con esta enfermedad en primera mano.
In this episode, we review the high-yield topic ofFriedreich Ataxia from the Neurology section.FollowMedbullets on social media:Facebook: www.facebook.com/medbulletsInstagram: www.instagram.com/medbulletsofficialTwitter: www.twitter.com/medbullets
My HoneyDew this week is comedian Fiona Cauley! Fiona joins me to Highlight the Lowlights of being diagnosed with a rare disease called Friedreich's ataxia. Fiona dives into what it was like getting a diagnosis at 18, the progression of going from a cane to now wheelchair, and some of the embarrassing moments she's found herself in since! SUBSCRIBE TO MY YOUTUBE and watch full episodes of The Dew every toozdee! https://youtube.com/@rsickler SUBSCRIBE TO MY PATREON - The HoneyDew with Y'all, where I Highlight the Lowlights with Y'all! Get audio and video of The HoneyDew a day early, ad-free at no additional cost! It's only $5/month! AND we just added a second tier. For a total of $8/month, you get everything from the first tier, PLUS The Wayback a day early, ad-free AND censor free AND extra bonus content you won't see anywhere else! https://www.patreon.com/TheHoneyDew What's your story?? Submit at honeydewpodcast@gmail.com Get Your HoneyDew Gear Today! https://shop.ryansickler.com/ Ringtones Are Available Now! https://www.apple.com/itunes/ http://ryansickler.com/ https://thehoneydewpodcast.com/ SUBSCRIBE TO THE CRABFEAST PODCAST https://podcasts.apple.com/us/podcast/the-crabfeast-with-ryan-sickler-and-jay-larson/id1452403187 SPONSORS: Rocket Money -Stop wasting money on things you don't use. Cancel your unwanted subscriptions by going to https://www.RocketMoney.com/HONEYDEW
"You don't have to be this perfect specimen in order to have value," says Jennifer Gasner, a true force of reinvention. Diagnosed at 17 with Friedrich's Ataxia, a rare neuromuscular disease, Jennifer has turned challenges into triumphs—with humor, resilience, and a passion for advocacy. Now an Amazon bestselling author, she shares how she found joy and balance beyond her diagnosis. Her memoir, My Unexpected Finding Balance Beyond My Diagnosis, offers profound lessons in adaptability and mindset. Tune in to discover how Gasner's journey can inspire your own reinvention and remind you that possibility thrives even in adversity. Bio At seventeen, Jennifer Gasner was diagnosed with Friedreich's Ataxia, a rare neuromuscular disease, but her determination and humor helped her navigate life's challenges, from using a walker to a wheelchair. She earned a BA in English from the University of Wisconsin-Platteville and an MS in Recreation from Western Illinois University, where she cultivated a love for music and student engagement. Her career includes advocating for disability rights with Wisconsin's Independent Living Centers, mentoring youth, and co-chairing UC San Diego's disability staff association. As a Friedreich's Ataxia Research Alliance Ambassador, she raises awareness and champions rare disease legislation. Honored by the International Memoir Writers Association, Jennifer's work, including her published story Diagnosis, reflects her passion for writing as she crafts a coming-of-age memoir, Walking is Overrated. Living in San Diego with her boyfriend Gregory and their two dogs, Wyatt and Ki, she enjoys yoga, movies, and travel. Links Website Facebook LinkedIn FREE GIFT! 31 Badass Tips for Launching Your Reinvention Connect with Lesley Jane Seymour & CoveyClub: Website Instagram LinkedIn Join CoveyClub If you found this episode insightful, please follow the podcast and leave a review on Apple Podcasts. For more resources and community support, join us at CoveyClub.com. Until next time, keep reinventing!
La Ataxia de Friedreich es una enfermedad rara, por definición, al afecta aproximadamente a 1 de cada 50.000 personas, que está causada por la mutacion de un gen concreto, el gen FXN, que produce la frataxina. Los problemas derivados de la Ataxia de Friedreich son sobre todo por la afectación del sistema nervioso y los musculos, causando problemas de coorinacion, equilibrio y debilidad muscular y, actualmente, aunque la progresión de la enfermedad es lenta, hoy en día no hay cura, llevando a una perdida significativa de la movilidad y habitualmente a obligar a usar silla de ruedas. Esta enfermedad también puede afectar a otras cuestiones como el corazón, la vista o la audición. Para entender la Ataxia de Friedreich desde primera persona tenemos con nosotros a Marta Ameneiro, una chica de 2 1 años con la enfermedad y que divulga sobre ello. Hablaremos de aspectos como el modo en que se presenta en ella, cómo fue su proceso diagnóstico, qué le supuso o tratamientos innovadores y ensayos que hay actualmente. Escuchar a Marta es todo un gusto, hacedme caso.
La Ataxia de Friedreich es una enfermedad rara, por definición, al afecta aproximadamente a 1 de cada 50.000 personas, que está causada por la mutacion de un gen concreto, el gen FXN, que produce la frataxina. Los problemas derivados de la Ataxia de Friedreich son sobre todo por la afectación del sistema nervioso y los musculos, causando problemas de coorinacion, equilibrio y debilidad muscular y, actualmente, aunque la progresión de la enfermedad es lenta, hoy en día no hay cura, llevando a una perdida significativa de la movilidad y habitualmente a obligar a usar silla de ruedas. Esta enfermedad también puede afectar a otras cuestiones como el corazón, la vista o la audición. Para entender la Ataxia de Friedreich desde primera persona tenemos con nosotros a Marta Ameneiro, una chica de 2 1 años con la enfermedad y que divulga sobre ello. Hablaremos de aspectos como el modo en que se presenta en ella, cómo fue su proceso diagnóstico, qué le supuso o tratamientos innovadores y ensayos que hay actualmente. Escuchar a Marta es todo un gusto, hacedme caso. REDES: Twitter: @entiendetusalud Instagram: @entiendetusalud TikTok: @entiendetusalud Email: hola@entiendetusalud.com Youtube: Entiende tu Salud
In this final episode of 2024, Sean and Kyle reflect on their evolving perceptions of living with Friedreich's Ataxia (FA) and how their expectations and outlooks have shifted since their diagnoses. They dive into topics like adaptive technologies, changing friendships, and how urgency influences their goals and priorities. Wrapping up with heartfelt thank-you notes, the duo celebrates the impact of community and innovation.Listeners are invited to embrace reflection, celebrate their progress, and prepare for a new year of possibilities. Email us: thedudes@twodisableddudes.com or comment on Instagram or Facebook.
Anthony Moncao takes part in weightlifting and crossfit competitions, but that came only after he was diagnosed at the age of 19 with the rare, neuromuscular condition Friedreich's ataxia. As the condition progressed, he had to give up on his plans of becoming at tattoo artist. Once he became reliant on a wheelchair, he began to withdraw from the world, not wanting people to see his disability on full display. That changed when he went with a friend on an extended cross-country trip that provided him with a new outlook on life. We spoke to Monaco about coming to terms with his diagnosis, how he was forced to abandon some dreams, and how was able to find new ones to pursue.
We speak with neuromuscular disease expert David Lynch, MD, PhD, attending neurologist in the Division of Neurology at Children's Hospital of Philadelphia and director of the Friedreich Ataxia Program, about the emerging treatment landscape for Friedeich Ataxia as well as Kiersten Riggs, who discusses the events leading to her Friedrich Ataxia diagnosis and how she has adapted to life with Friedrich ataxia.
Regents parents Kendall and Kyle Harvey sit down with Kirk Avery to discuss Friedreich's ataxia (FA), a rare degenerative disorder that Kendall was diagnosed with in her early 20's. Their discussion covers the history of Kendall's diagnosis, how it has affected her faith and family, and the Harveys' perspective on living with FA.
Imperfect Mommying: Better Parenting through Self Healing with Alysia Lyons
In this episode, I welcome the inspiring Amy Rost, a mom of four who navigated the challenges of raising a child with a rare degenerative disease. Join us as Amy shares her powerful journey from a corporate career to opening her own Pilates studio, driven by the need for balance and connection amidst chaos. Discover how she transformed her life by prioritizing not just physical health, but emotional well-being and community support. We dive into the complexities of motherhood, the importance of finding your tribe, and the transformative power of self-care—guilt-free! Whether you're a seasoned mom or just starting your journey, Amy's insights will resonate with anyone seeking to reclaim their identity and find joy in the everyday. Tune in for a conversation that reminds us that we are not alone in our struggles, and that embracing our imperfections can lead to profound strength and connection. Amy owns ARC Pilates in Cochrane, Alberta, Canada, is the Founder of Pilates Fest North, and is a Co-Founder of the University of Pilates and Pilates Mentors. She is the mother of four. In 2010, her oldest son was diagnosed with a rare degenerative neuromuscular disease called Friedreich's Ataxia (FA). This was the wake-up call that led her to Pilates. Amy worked in private healthcare for 15 years as an Administrator of Disability Management. In 2016, she left her corporate job to pursue her passion for Pilates. Amy is a Classical Comprehensively Advanced Trained Teacher and National Certified Pilates Teacher. Amy is a sought-after International Educator and Teacher Training Mentor. Amy is a Jay Shetty-certified Life Coach. She uses her passion for movement, connection, and collaboration to cultivate community in every aspect of her life, business, and Pilates practice. Amy believes we were never meant to do life alone and need each other. Through connection and collaboration, we can build strong communities to support us every step of the way. Connect with Amy: https://instagram.com/arc.pilates https://facebook.com/ARCPilates.ca www.alysialyons.com Connect with me: linktr.ee/momsupportcorner --- Support this podcast: https://podcasters.spotify.com/pod/show/momsupportcorner/support
In this episode, Brain & Life Podcast hosts Dr. Daniel Correa and Dr. Katy Peters highlight some of their favorite articles from the August/September issue of the Brain & Life Magazine! They discuss six Paralympic athletes and their impressive feats, how childhood trauma is linked to migraine, and methods of keeping loved ones safe in the hospital. If you would like to read these articles and more, be sure to subscribe to Brain & Life Magazine for free! Articles Discussed Meet Six Paralympians Preparing for the 2024 Paris Games How Childhood Trauma Is Linked to Migraine How to Keep Loved Ones Safe in the Hospital Other Brain & Life Podcast Episodes on These Topics Paralympic Athlete Helen Kearney on Living her Dreams with Friedreich's Ataxia Exploring the Science of Everyday Wonder with Dacher Keltner Healing the Traumatized Brain with Dr. Sandeep Vaishnavi Broadcast Journalist Deborah Roberts on Living with Migraine We want to hear from you! Have a question or want to hear a topic featured on the Brain & Life Podcast? · Record a voicemail at 612-928-6206 · Email us at BLpodcast@brainandlife.org Social Media: Hosts: Dr. Daniel Correa @neurodrcorrea; Dr. Katy Peters @KatyPetersMDPhD
In this episode of the Brain & Life podcast, co-host Dr. Katy Peters is joined by Helen Kearney, a dressage rider from Ireland who competed in the 2021 Paralympics. Helen shares about her Friedreich's Ataxia diagnosis, how she connects with her horse, and her Paralympic experience. Dr. Peters is then joined by Dr. Sub Subramony, a board-certified neurologist and neuromuscular medicine specialist at the Norman Fixel Institute for Neurological Diseases at University of Florida. Dr. Subramony explains what Friedreich's Ataxia is, how it is diagnosed and treated, and what the future looks like for patients and their families. Additional Resources Meet Six Paralympians Preparing for the 2024 Paris Games What is ataxia and cerebellar or spinocerebellar degeneration? New Research Gives Hope to Patients with Inherited Ataxias Friedreich's Ataxia Research Alliance Other Brain & Life Episodes on this Topic Paralympian Jamal Hill on Winning Bronze with Charcot-Marie-Tooth Olympic Swimmer Rowdy Gaines on His Career and Guillain-Barré Syndrome BMX Athlete Josh Perry's Perseverance Living with Brain Tumors We want to hear from you! Have a question or want to hear a topic featured on the Brain & Life Podcast? · Record a voicemail at 612-928-6206 · Email us at BLpodcast@brainandlife.org Social Media: Guests: Helen Kearney @HelenKearneyIRL; Dr. Sub Subramony @fixelinstitute Hosts: Dr. Daniel Correa @neurodrcorrea; Dr. Katy Peters @KatyPetersMDPhD
In this episode, we review the high-yield topic of Friedreich's Ataxia from the Pediatrics section. Follow Orthobullets on Social Media: Facebook Instagram Twitter LinkedIn YouTube
In this episode, we review the high-yield topic of Friedreich's Ataxia from the Pediatrics section. Follow Orthobullets on Social Media: Facebook Instagram Twitter LinkedIn YouTube
Esta enfermedad neurodegenerativa hereditaria causa un daño progresivo al sistema nervioso y afecta a la capacidad de hablar, andar o tragar de las personas que la padecen. En Julia en la onda hablamos con Marian Vaya, madre de tres hijos afectados con ataxia, para conocer su lucha por eliminar las barreras arquitectónicas del instituto donde estudian los menores. También nos acompaña el doctor Antoni Matilla-Dueñas que nos contará cómo la terapia génica puede ser la solución de esta enfermedad.
My guest today on the Online for Authors podcast is Jennifer Gasner, author of the book, My Unexpected Life: Finding Balance Beyond My Diagnosis. Jennifer received her BA in English from the University of Wisconsin-Platteville and her MS in recreation from Western Illinois University. Her work with Independent Living Centers enabled her to learn about various disability programs throughout the country and ignited her passion for disability culture. She relocated to San Diego, California, on her own at the age of twenty-eight. As a mentor for What's Next, a program for youth with disabilities, and as co-chair of UC San Diego's Staff Association for staff with disabilities, Jennifer solidified her role in the San Diego disability community. In 2020, Jennifer became an ambassador for the Friedreich's Ataxia Research Alliance (FARA), raising awareness about Friedreich's Ataxia (FA). She participated in Rare Across America, meeting with legislators to discuss laws affecting more than 25 million Americans living with one or more rare diseases. Jennifer is a member of the San Diego Memoir Writers Association, and her writing has been published in Shaking the Tree, volumes 3 and 4. In her free time, she enjoys yoga, movies, and traveling. She lives with her boyfriend Gregory and their dog. My Unexpected Life is her first book. In my book review, I stated My Unexpected Life is a memoir that takes an honest look at Jennifer's journey from diagnosis to embracing life with a disability. Jennifer has no qualms about showing the messy middle which includes denial and anger on her part, insensitivity on the part of family and friends, ableism culture in her school, community, and herself, and more. As a reader, you will want to both shake Jennifer and those around her, as well as cheer her on. You will learn what it's like to get potentially devastating news and how such news can affect everything you believe about life. In the end, you will learn that a disability doesn't have to define you. In fact, for Jennifer, her disability is just a small fraction of who she has become. Reading this book will help you shed light on your own ableist ideas and offer new ways of seeing those navigating life with a disability. I highly recommend this memoir. You can follow Author Jennifer Gasner Website: https://jennifergasner.com/. IG: @jennygwriter FB: @AuthorJenniferGasner Teri M Brown, Author and Podcast Host: https://www.terimbrown.com FB: @TeriMBrownAuthor IG: @terimbrown_author X: @terimbrown1 #jennifergasner #myunexpectedlife #memoir #disability #terimbrownauthor #authorpodcast #onlineforauthors #characterdriven #researchjunkie #awardwinningauthor #podcasthost #podcast #readerpodcast #bookpodcast #writerpodcast #author #books #goodreads #bookclub #fiction #writer #bookreview
Nolan Townsend, CEO of Lexeo Therapeutics, and Jen Farmer, CEO of FARA, the Friedreich's Ataxia Research Alliance, are working together to better understand and treat Friedreich's Ataxia. This rare genetic condition includes cardiomyopathy and scoliosis. Lexeo Therapeutics is studying gene therapy as a potential treatment for the cardiovascular component of the disease. The Friedreich's Ataxia Research Alliance (FARA) plays a role in funding research, understanding the natural history of the disease, and advocating for treatments. Nolan explains, "For most patients in Friedreich's ataxia, cardiovascular disease becomes a very challenging component of the pathology, and it is what's called a hypertrophic cardiomyopathy phenocopy. So, it mimics hypertrophic cardiomyopathy, which is a thickening of the heart wall. And that typically progresses as well, which, for many patients, ends up being the cause of mortality associated with the disease. This pathology does appear to be amenable to treatment approaches like gene therapy, and it's one that we're working on here at Lexeo." Jen elaborates, "As Nolan mentioned, it's caused by mutations in a gene called FXN, and the mutation in the gene causes a silencing of the gene. So, individuals with FA have what we call frataxin deficiency. And frataxin is a highly conserved protein that is important in lots of different cells, which is why the disease affects multiple organ systems. So, while it's a genetic disease, it's this protein deficiency that causes the pathology within the cell. The cells just don't make enough energy and don't function properly, and that's what contributes to the underlying cause of the disease." #FriedreichsAtaxia #CureFA #FAAwarenessMonth #FAAwarenessDay #RareDiseases LexeoTX.com CureFA.org Download the transcript here
Nolan Townsend, CEO of Lexeo Therapeutics, and Jen Farmer, CEO of FARA, the Friedreich's Ataxia Research Alliance, are working together to better understand and treat Friedreich's Ataxia. This rare genetic condition includes cardiomyopathy and scoliosis. Lexeo Therapeutics is studying gene therapy as a potential treatment for the cardiovascular component of the disease. The Friedreich's Ataxia Research Alliance (FARA) plays a role in funding research, understanding the natural history of the disease, and advocating for treatments. Nolan explains, "For most patients in Friedreich's ataxia, cardiovascular disease becomes a very challenging component of the pathology, and it is what's called a hypertrophic cardiomyopathy phenocopy. So, it mimics hypertrophic cardiomyopathy, which is a thickening of the heart wall. And that typically progresses as well, which, for many patients, ends up being the cause of mortality associated with the disease. This pathology does appear to be amenable to treatment approaches like gene therapy, and it's one that we're working on here at Lexeo." Jen elaborates, "As Nolan mentioned, it's caused by mutations in a gene called FXN, and the mutation in the gene causes a silencing of the gene. So, individuals with FA have what we call frataxin deficiency. And frataxin is a highly conserved protein that is important in lots of different cells, which is why the disease affects multiple organ systems. So, while it's a genetic disease, it's this protein deficiency that causes the pathology within the cell. The cells just don't make enough energy and don't function properly, and that's what contributes to the underlying cause of the disease." #FriedreichsAtaxia #CureFA #FAAwarenessMonth #FAAwarenessDay #RareDiseases LexeoTX.com CureFA.org Listen to the podcast here
We talk with Jennifer Gasner on this episode of #Journeys ! Jennifer is an #author and #blogger who talks with us about her journey with Friedreichs Ataxia, accessibility and intersectionality. #disability #m4gAdvocacyMedia #advocacy #Journeys #podcast #interview #FA #FriedreichsAtaxia #community #DisabilityCulture #intersectionality #TheAtaxian00:00 Intro 03:22 My Unexpected Life: Finding Balance Beyond My Diagnosis Book 04:55 Jennifer's Journey 07:58 Very Limited Info & Supports 11:21 Preconceived Notions & Collaboration Towards Change 13:04 Judy Heumann's Hope & Legacy 16:54 Equality, Equity & Privilege 21:16 Power Dynamics 27:20 Disability Representation & Friedreich's Ataxia 31:42 Be Someone's Encouragement & Hope 35:27 More About Jennifer's Book & Contact Info 37:27 Two Disabled Dudes Podcast & The Ataxian Movie ___ LINKS Jennifer's Website - https://JenniferGasner.com/ The Ataxian - https://www.YouTube.com/watch?v=Bi7rF37Gqic Diversability - https://mydiversability.com/ Two Disabled Dudes - https://TwoDisabledDudes.com/ ___ COLLABORATIONS & WAYS YOU CAN HELP: At M4G Advocacy Media, we are proud to be global advisors of Billion Strong (https://billion-strong.org) who are connecting and empowering the global community of over 1.3 billion people with disabilities! #WeAreBillionStrong #BillionStrong #BillionStrongGlobalAdvisors #BillionStrongPartners #AXSChat #DisabilityInclusion #DisabilityConfident ___ We take accessibility seriously at M4G! Our accessibility partner is accessiBe. If you're looking to make your website more accessible (and really you should!), check them out at https://accessiBe.com @accesiBe ___ Check out our website: https://www.m4gadvocacymedia.com Follow us on Facebook: https://www.facebook.com/m4gadvocacymedia Join our Facebook Community: https://www.facebook.com/groups/m4gadvocacymedia Follow us on Instagram: https://www.instagram.com/m4gadvocacymedia Subscribe to our YouTube channel: https://www.youtube.com/@m4gadvocacymedia Pick up some merchandise on our online store: https://www.bonfire.com/store/m4g-advocacy-media/ Be an ally also by understanding and supporting us, as we support the disability community: https://givesendgo.com/G9E6T Additionally, you can help by buying us a coffee or tea: https://www.buymeacoffee.com/m4gkrysandmark WE ARE SO GRATEFUL FOR YOUR SUPPORT, THANK YOU! TOGETHER WE CAN CREATE AN INCLUSIVE WORLD FOR HUMANITY ❤️ --- Support this podcast: https://podcasters.spotify.com/pod/show/m4gadvocacymedia/support
Jennifer Gasner joins me to discuss her journey as a writer. She was diagnosed with Friedreich's Ataxxia early in her life and meeting those challenges it brought through her sense of humor and determination. We also discuss her love of Dave Matthews music. Learn more about your ad choices. Visit megaphone.fm/adchoices
This episode delves into the journey of Skyclarys, the first FDA-approved treatment for Friedreich's ataxia (FA), a rare genetic disorder. The discussion features Dr. Colin Meyer, former executive at Reata Pharmaceuticals, who shares his experiences from the inception of Reata to the acquisition by Biogen. The conversation offers a compelling narrative of resilience, innovation, and collaboration in the pursuit of groundbreaking therapies for rare diseases. Colin's reflections provide valuable perspectives on the challenges and rewards of drug development, as well as the transformative potential of scientific breakthroughs in improving patient outcomes. Also in this episode: Sean visits Golden 1 Arena Newsworthy: Athlete With Cerebral Palsy Finishes The Barcelona Marathon Thank you notes: Kyle's friends Blake & Dan and Sean's friend Taylor Links and resources: rideATAXIA Hometown San Luis Obispo, CA. May 11, 2024 Nic Novicki's 2DD Episode Colin's previous episode: 035 - Drug Development - LIVE at REATA Pharmaceuticals Team FARA Himalayas Fundraising page Alex Roca finishing Barcelona Marathon Newsworthy music courtesy of Zapsplat.com
Michelle Huebner is a powerful example of how attitude can color your everyday existence. In this episode, Michelle shares her journey with Friedreich's ataxia (FA) and how it has shaped her perspective on life. She discusses the symptoms and challenges of living with FA, as well as the importance of finding joy and living life to the fullest. Michelle emphasizes the need for independence and letting go of anger. Listen in as she shares her approach to everyday life, including a cool way to schedule more activities that bring you joy. For more info on FA, check out www.curefa.org Chapters 00:00 Introduction and Inspiration 09:04 Finding Relief and Connecting with the FA Community 15:52 Hope and Progress in FA Research 45:10 Finding Happiness and Fulfillment in the Face of Challenges 57:20 The Power of a Strong Support System 01:10:20 Advocating for Others and Sharing Experiences
Say hello to Arlee and Abel!
In this insightful interview with Jen Farmer, CEO of the Friedreich's Ataxia Research Alliance (FARA), we explore the evolving landscape of rare disease research and the journey towards treatments for Friedreich's ataxia (FA). Jen shares her experiences and challenges as a leader in the field, emphasizing the importance of community involvement and collaboration. Also in this episode: Sean travels to Vegas with a group of 30. Newsworthy: Viral ad challenges stereotypes about Down syndrome: ‘Assume I can drink a margarita' Thank you notes: Jakob in Austria and Kelly at The Venetian. Links and resources: Jen's Previous episodes: DD pt4: Why Sean Baumstark is Banned From Clinical Trials How a Mom Launched the First Drug Approval in FA Newsworthy music courtesy of Zapsplat.com
Welcome to the NeurologyLive® Mind Moments® podcast. Tune in to hear leaders in neurology sound off on topics that impact your clinical practice. In this episode, Francesco Saccà, MD, PhD, an associate professor of neurology at the University of Naples, discussed an ongoing study assessing the use of dimethyl fumarate, an approved therapy for relapsing multiple sclerosis, in patients with Friedreich ataxia (FA). He spoke on the mechanism of action of the agent and why it can be beneficial in this patient population, as well as how it differs from omaveloxolone (Skyclarys; Biogen), the first approved treatment for FA. In addition, he outlined the study design, the primary end point of frataxin decrease, and what would be considered a "successful" study. Furthermore, he spoke on the reasons behind the trial and what led investigators to this point. Looking for more ataxia discussion? Check out the NeurologyLive® ataxia clinical focus page. Episode Breakdown: 1:05 – Origin of the study 3:00 – Conduct of the study, end points, goals 5:10 – Promising mechanism of action of dimethyl fumarate to treat Friedreich ataxia 7:30 – Questions in clinical impact of changes in frataxin 10:00 – Neurology News Minute 12:40 – What is considered a successful study? 14:55 – Patient inclusion, demographic makeup of the study 16:35 – Timeline of the trial and data readout The stories featured in this week's Neurology News Minute, which will give you quick updates on the following developments in neurology, are further detailed here: FDA Approves Alexion's Ravulizumab-cwvz for Neuromyelitis Optica Spectrum Disorder Epilepsy Agent STK-001 Demonstrates Disease-Modifying Effects in Early Phase Studies of Dravet Syndrome Eisai Submits sBLA for Monthly Intravenous Maintenance Dosing of Alzheimer Therapy Lecanemab Thanks for listening to the NeurologyLive® Mind Moments® podcast. To support the show, be sure to rate, review, and subscribe wherever you listen to podcasts. For more neurology news and expert-driven content, visit neurologylive.com.
In Episode 244, the Dudes delve into the topic of change and consistency, particularly in the context of living with progressive diseases like Friedreich's ataxia (FA). They discuss the challenges of navigating constant change, setting expectations, and managing the desire for both fast and slow change. Also in this episode: Emergency haircuts and curbcut confusion Newsworthy: FOX 5 Las Vegas Surprise Squad Thank you notes: A vacation buddy and fake plants Links and resources: Sean's column: The progressive nature of FA taught me to appreciate gradual change
While collectively uncommon, the clinical presentation of genetically-mediated spinal cord disorders frequently overlaps with other neurologic conditions. Our understanding of these disorders has grown considerably. In this episode, Kait Nevel, MD, speaks with Kara Stavros, MD, FAAN, author of the article “Genetic Myelopathies,” in the Continuum February 2024 Spinal Cord Disorders issue. Dr. Nevel is a Continuum® Audio interviewer and a neurologist and neuro-oncologist at Indiana University School of Medicine in Indianapolis, Indiana. Dr. Stavros is an associate professor of neurology and clinician educator at Warren Alpert Medical School of Brown University in Providence, Rhode Island. Additional Resources Read the article: Genetic Myelopathies Subscribe to Continuum: shop.lww.com/Continuum Earn CME (available only to AAN members): continpub.com/AudioCME Continuum® Aloud (verbatim audio-book style recordings of articles available only to Continuum® subscribers): continpub.com/Aloud More about the American Academy of Neurology: aan.com Social Media facebook.com/continuumcme @ContinuumAAN Host: @IUneurodocmom Guest: @StavrosKara Transcript Full transcript available on Libsyn Dr Jones: This is Dr. Lyell Jones, Editor-in-Chief of Continuum, the premier topic-based neurology clinical review and CME journal, from the American Academy of Neurology. Thank you for joining us on Continuum Audio, a companion podcast of the journal. Continuum Audio features conversations with the guest editors and authors of Continuum, who are the leading experts in their fields. Subscribers to the Continuum journal can read the full article or listen to verbatim recordings of the article by clicking on the link in the show notes. Subscribers also have access to exclusive audio content not featured on the podcast. As an ad-free journal entirely supported by subscriptions, if you're not already a subscriber, we encourage you to become one. For more information on subscribing, please visit the link in the episode notes. AAN members, stay tuned after the episode to hear how you can get CME for listening. Dr Nevel: This is Dr Kait Nevel. Today, I'm interviewing Dr Kara Stavros on genetic myelopathies, which is part of the February 2024 Continuum issue on spinal cord disorders. Dr Stavros is an Associate Professor of Neurology and Clinician Educator at Warren Alpert Medical School at Brown University in Providence, Rhode Island. Welcome to the podcast. What is the biggest takeaway from your article that you'd like the neurologists listening to this to know? Dr Stavros: I would have to say that there's maybe two big takeaways that I would want to highlight. One would be that, generally speaking, in a nutshell, the genetic myelopathies can present with chronic and progressive symptoms, oftentimes (but not always) a family history of similar symptoms, and involvement of other structures outside of the spinal cord. Exclusion of the more treatable causes of myelopathy is a really key and important step in the diagnostic process. And because there are many different causes of genetic myelopathies, in some cases, the symptoms can overlap. I think this really underscores the utility of doing genetic testing to really confirm the precise underlying neurologic condition. The second takeaway that I would want to highlight is that, while treatment for most of these conditions is typically supportive, there have been a number of recent therapeutic breakthroughs for treatments in ALS, spinal muscular atrophy, adrenal myeloneuropathy, and Friedreich ataxia. While these aren't cures, it's really exciting and gratifying to see new therapeutics emerge via different mechanisms for patients with conditions that we've had very little treatment options for in the past. Dr Nevel: Yeah, I really enjoyed reading that in your article - about these treatments that have been coming out over the past several years. The one with Friedreich's ataxia, too - that looked like it was really just recently approved this year. Dr Stavros: Yes. Dr Nevel: And so, kind of jumping off of that topic - there have been these exciting treatments that have been coming through. What do you think is going to be the next big thing? Or what do you think is the next thing that might come through? Or what's going on in research in genetic myelopathies that might help our patients? Dr Stavros: That's a really great question. I think that, as far as the future in this area, genetic testing has definitely grown in terms of being able to identify more genes now that are implicated in these disorders than ever before. But this is still an area where our knowledge is continuing to evolve. So, I think the future holds further advancements in our ability to successfully diagnose patients who have these conditions and provide them with the sense of closure that having a definitive diagnosis brings, as well as opening the door to potentially targeted treatment options once a specific diagnosis is made. Another thing I think the future holds is continued development of expanded treatment options for patients with these conditions, both in terms of advancing our supportive care capabilities and then also providing more disease-modifying therapies. Again, as I mentioned, in recent years, new disease-modifying treatments have actually become available for several of these conditions. And I think that's just the beginning. There's going to be more to come, for sure. Dr. Nevel: Yeah, that would be great. Going back to the genetic testing and how things are - we're finding more and more and more genes. When you decide that genetic testing is indicated, how do you counsel your patients about genetic testing and walk them through that process? Dr Stavros: Okay - I would say that it usually starts with having a conversation with the patient about whether they want to pursue genetic testing or not for the particular condition or conditions that are suspected. Genetic testing is really helpful to, again, confirm the diagnosis once the initial diagnostic workup perhaps has given you some clues as to what the underlying condition might be. Again, because sometimes the clinical symptoms can overlap in different genetic myelopathies in particular, the genetic diagnosis can be really important as far as getting a definitive, final diagnosis. Usually testing is pretty carefully considered and the risks versus the benefits are explored with the patient. Oftentimes, this is done in conjunction with a genetic counselor or with genetics clinic. So, there's a lot of teamwork there in working with the genetics department, at least in my experience. There's a lot of options that might include testing a panel of genes for the suspected condition, to up to whole-exome sequencing. Again, this is really like an evolving landscape. So, we have a current understanding of the genes that are implicated in some of the genetic myelopathies, but there's still so much that we don't know. So, a lot of times, testing can result inconclusive or may be falsely negative, and it can be tough because a negative test doesn't necessarily exclude a potential genetic etiology. It becomes a very nuanced, I think, conversation and journey with the patient. Dr Nevel: Yeah, and in your article you mentioned some of the health care disparities that exist around genetic testing and access to genetic testing, specifically. How do we, as clinicians, try to mitigate inequities in regard to access, or in regards to being able to offer our patients genetic testing - is there anything that we can do? Dr Stavros: I do think there are some resources available, where free or sponsored testing can be utilized from nonprofit organizations or pharmaceutical companies. But you're right that this is a real area for potential health care disparities. And making sure that we have equitable access to genetic testing is really important. Some of the issues that come up are: limited access due to location; due to socioeconomic factors; a lack of awareness on the part of the patient or sometimes the provider about testing that's available; cost, of course, being a big issue, oftentimes; and sometimes, distrust of how the medical information, the genetic information, might be used or protected. Dr Nevel: What do you think is one of the most challenging things about managing patients with genetic myelopathies? Dr Stavros: I think one of the more challenging aspects of the care is the diagnostic journey. I think that some of these conditions - most of them are not terribly common – and they may not always be at the top of our differential diagnosis in the course of a workup for myelopathy. The first step, I think, is really continuing to be aware of these conditions and not letting them become a “blind spot” when we're formulating a differential diagnosis for a patient with myelopathic symptoms. I think it can really take some time to reach the ultimate diagnosis for most of these conditions. Another challenging aspect, which I alluded to earlier, is sometimes when genetic testing might come back inconclusive or nonrevealing, and there remains some diagnostic uncertainty despite best efforts and a thorough workup -that can be frustrating as well, sometimes. Again, our knowledge of these genetics and the genetic mutations underlying these disorders is still really evolving. But on the flip side, there's a lot of rewarding aspects as well. I think one of the most rewarding aspects is trying to help patients identify interventions that improve their quality of life, and working with the patients and their families (who oftentimes become very expert in their own rare conditions in their own right), and working amongst the interdisciplinary teams. So many of these conditions are associated with extraneurologic manifestations, and so patients need coordination of care with other specialists. Hereditary spastic paraplegia is a great example, as well as Friedreich ataxia, where you often work closely with the cardiologist and of course, ALS, where there are a lot of multidisciplinary needs. Dr Nevel: Yeah, I'm so glad that you mentioned that because, in neurology in general (and specifically in this area), I can imagine the benefit to patients when there are multiple specialists involved in their care who are experts in the various aspects that are impacted from their underlying condition. Shifting gears a little bit - but going back to something that you've mentioned a few times, about making sure that we don't have a blind spot to genetic myelopathies, and that we consider this in part of our differential diagnosis when we're evaluating patients - in the patient who doesn't have an extensive family history of the exact same neurological symptoms, when should we consider genetic testing for patients that we're seeing in clinic? Like, at what point should we say, “Okay, we've done the other tests and now is the time to consider genetic testing.” Because I think, unless somebody has that really strong family history, it's probably not on the top of your list to do it right away, for a variety of reasons. Dr Stavros: I think you make a great point. Family history is tricky because, typically, we use that as a really strong clue of an inherited disorder of any type. But it can be tricky because, for a variety of reasons, it might be negative. Sometimes there is a de novo mutation, or there's variable phenotypes within the family, variable penetrance within the same family. Autosomal recessive inheritance can actually be, sometimes, hard to pick out. Or sometimes, patients don't have knowledge of their family members' medical histories. For all of these reasons, there may be information lacking in the family history. But I would say one of the most important things to exclude when you're working up patients initially is, of course, acquired causes of myelopathy, because you wouldn't want to miss a more treatable cause. And so, things like structural causes, nutritional, vascular or demyelinating causes (things that are explored more deeply in some of the other articles in this issue) are important. But if you've excluded acquired causes despite lacking a strong family history, I think, at that point, it's worth broadening your differential diagnosis to consider whether you might have reason to suspect a genetic myelopathy, particularly if you have some extraneurologic manifestations, some systemic symptoms that might be a clue towards a more systemic process. In genetic myelopathy, sometimes imaging can actually be quite helpful. It helps you exclude - MRI of the spine can help you exclude acquired causes, but it also helps you sometimes get clues toward a genetic cause. Typically, the finding might be either normal or show some spinal cord atrophy (but typically without signal change, so that can sometimes be a clue). Dr Nevel: What's one mistake that is made in managing patients with genetic myelopathies? Maybe “mistake” is too strong a word; maybe “misconception” about treating patients with genetic myelopathies. Dr Stavros: That's a great question. I think that one of the, maybe, misconceptions might be that these are homogeneous entities, these different diseases. But one of the things that surprised me anew in going back to research this topic and prepare this article was a reminder of just how variable both the genotypes and the phenotypes are within what we consider sometimes just one diagnosis, like hereditary spastic paraplegia, for example, spinocerebellar ataxia. There's so many different presentations and genotypes associated with these. It's really a family of different conditions. You could say the same thing about ALS as well. So, the spectrum of disease, I think, is important to recognize. Dr Nevel: Yeah, and I can imagine because of that spectrum of disease, just having an open mind in considering genetic testing and not excluding a potential genetic cause because it doesn't fit into what we think is the most typical presentation of that genetic condition. Dr Stavros: Yes - I'm in total agreement. Dr Nevel: I've asked you about what some of the misconceptions are and what some of the challenges are, but what's the most rewarding part about taking care of patients with genetic myelopathies for you? Dr Stavros: I think one of the most rewarding parts has to be working with the patients and the families. Like I mentioned earlier, sometimes they become so expert in their own conditions - it's amazing. And, working with them, working with the interdisciplinary teams, is a really rewarding process. I think that the more I've encountered patients with some of these rare conditions, the more I've learned from their stories and experiences, and so, that's, I think, been the most rewarding aspect to me. Dr Nevel: You've mentioned the multidisciplinary team a couple of times that we've talked about this, but who specifically do you usually include or contributes to the care of these patients? Dr Stavros: It may depend on the condition in question. So, for example, for Friedreich ataxia, there's always going to be a cardiologist involved in the patient's care. For ALS, there's going to be a larger team. For those who are familiar with ALS multidisciplinary clinics, this often includes physical therapy, speech therapy, nursing, pulmonary, and many others. And so, it really depends. I think in most cases though, genetics evaluation and genetic counseling is a really important piece. Dr Nevel: How do you work with the genetic counselors in counseling families about testing other family members? Because that's something that's really challenging in genetic conditions, especially for people with children that may be underage, and this is a really complicated topic. But how do you approach that? Dr Stavros: I think that it may depend on your particular institution. Where I'm at, typically, that's something that our genetics department will take the lead on and they will meet with the patient first and then also meet with and bring in any interested family members who are hoping to pursue the possibility of testing themselves. There's a bit of controversy or differing opinions around genetic testing, specifically for presymptomatic individuals for inherited ALS, because - certainly, there's pros and cons for being tested for any condition, but some special considerations come into play when someone is presymptomatic. There's actually been studies done, in particular, on patients who have a family history of ALS who are presymptomatic, and generally, the studies have shown that those patients are usually - the majority - in favor of being tested. But it does certainly bring up some ethical implications. Of course, any discussion is going to be undertaken with the goal of informing the patient and discussing the risks versus the benefits in detail. There's actually recommendations on the principles and the practice of presymptomatic testing for ALS, which is available and referenced in the article. Dr Nevel: Do you think as - hopefully, in the future, as more treatments become available - that presymptomatic genetic testing could play a role in how we manage patients? Dr Stavros: I think that's a great thought. I think it may, especially as more treatments become available, I think there may be a greater interest in demand for finding out early whether you might have a likelihood of developing a certain condition so that you can plan accordingly and perhaps even pursue treatments early on. Dr Nevel: You know, you mentioned this (and this isn't maybe quite exactly the same thing), but in SMA - you mentioned newborn screening for SMA and new treatment for SMA, and that newborn screening is not always a standard, and that there's controversy around that, now that we have treatment for it. Dr Stavros: Yes. That's another area where some controversy comes up as well, as far as cost and treatment, for sure. Dr Nevel: Thank you, Dr Stavros, for joining me on Continuum Audio. Again, today we've been interviewing Dr Kara Stavros, whose article on genetic myelopathies appears in the most recent issue of Continuum on spinal cord disorders. Be sure to check out Continuum Audio podcasts from this and other issues. And thank you to our listeners for joining today. Dr Monteith: This is Dr Teshamae Monteith, Associate Editor of Continuum Audio. If you've enjoyed this episode, please consider subscribing to the journal. There's a link in the episode notes. We'd also appreciate you following the podcast and rating or reviewing it. AAN members, go to the link in the episode notes and complete the evaluation to get CME for this episode. Thank you for listening to Continuum Audio.
Dave (Dr. Lynch), a seasoned clinician and researcher specializing in Friedreich's ataxia (FA), sheds light on his nearly three-decade journey at the forefront of FA care. Throughout the conversation, Dave emphasizes the indispensable role of patient participation in research, underscoring the collaborative spirit driving advancements in FA drug development. Also in this episode: Sean's Sleep-talking escapades. Kyle Finally took his road test for his driver's license. Newsworthy: Light Up For Rare comes to a monument near you! Links and Resources: Light Up For Rare
In this episode, we review the high-yield topic of Friedreich's Ataxia from the Knee & Sports section. Follow Orthobullets on Social Media: Facebook Instagram Twitter LinkedIn YouTube --- Send in a voice message: https://podcasters.spotify.com/pod/show/orthobullets/message
Friedreich's ataxia is a rare, genetic, degenerative disorder that affects multiple systems in the body. As the disease progresses, patients typically experience various heart conditions. Hypertrophic cardiomyopathy, fibrosis, heart failure, and arrhythmias are the cause of death in approximately two-thirds of Friedreich's ataxia patients. Lexeo Therapeutics is developing a gene therapy to treat FA cardiomyopathy. We spoke to R. Nolan Townsend, CEO of Lexeo Therapeutics, about Friedreich's ataxia, the company's gene therapy in development, and its pursuit of gene therapies for both rare and common diseases.
In this installment of our series on rare neurologic diseases, Christina Burke talks with Jeannie Stephenson and Staci Shearin about Friedreich's Ataxia, a progressive, autosomal recessive hereditary multi-system neurodegenerative disease that impacts approximately 1 in 40,000 people in the U.S. Jeannie and Staci cover assessment, PT treatment and prognosis for people with this unique diagnosis that causes significant balance and gait challenges. The Degenerative Diseases Special Interest Group is part of the Academy of Neurologic Physical Therapy – www.neuroPT.org Show notes available here : https://www.neuropt.org/docs/default-source/degenerative-diseases-sig/4d-podcast-show-notes---2019/ddsig-podcast-show-notes-2023/show-notes---episode-47-jeannie-stephenson-staci-shearin.pdf
Los tres hijos de Marian Vaya García fueron diagnosticados de Ataxia de Friedreich, una enfermedad crónica, degenerativa y sin cura que afecta a la coordinación. Se trata de una dolencia hereditaria que marca la vida de Marian y su familia.
Episode 232 welcomes Matt LaFleur who shares his journey as a rare disease patient with Friedreich's ataxia (FA). Matt talks about how he transitioned from viewing himself as a victim of FA to seeing himself as a hero in his own story. He describes the impact of the diagnosis as an "inciting event" and highlights how the hero's journey is not just a linear path but a cyclical one. Matt emphasizes the importance of taking responsibility and finding little victories along the way, despite the ongoing presence of FA. The discussion touches on various aspects of life with a rare disease, relationships, and personal growth. Matt also shares his experience of presenting at the FA Symposium and how he and his co-presenters used mythical characters to relate their topics to the hero's journey concept. The episode offers a unique perspective on finding inspiration and resilience in the face of adversity. Links & Resources Register Today: Friedreich's ataxia News Virtual Event, Nov 1 Read: Matt's Column Watch: FARA FA Symposium Recordings This episode brought to you in part by Reata Pharmaceuticals. Reata Pharmaceuticals is the company that makes SKYCLARYS™ (omaveloxolone) 50 mg capsules. Our mission is to develop innovative therapies that change patients' lives for the better. For more information about SKYCLARYS, visit: Skyclarys.com ©2023 Reata Pharmaceuticals, Inc. All rights reserved. SKYCLARYS, REATA, and their logos are trademarks of Reata Pharmaceuticals, Inc.
Scientific Sense ® by Gill Eapen: Prof. Stephanie Cherqui is professor of Pediatrics at the University of California San Diego. Her research project is focused on the molecular characterization of cystinosis, a metabolic hereditary disease, and gene therapy. Please subscribe to this channel: https://www.youtube.com/c/ScientificSense?sub_confirmation=1 --- Send in a voice message: https://podcasters.spotify.com/pod/show/scientificsense/message Support this podcast: https://podcasters.spotify.com/pod/show/scientificsense/support
In this episode, Patrick welcomes J. Warren Huff, CEO and Chairman of Reata Pharmaceuticals. Reata is known for innovating small-molecule therapies for severe and life-threatening diseases. Listen in as Warren walks us through their approach of partnering with Universities to find scientific discoveries that could become the next generation of therapies, and Reata's recent success developing a groundbreaking new treatment for Friedreich's Ataxia (FA), thanks to close collaboration with patient organizations and novel use of natural history data to accelerate their clinical development. 0:00 The beginnings of Reata 2:40 Partnering with universities for breakthroughs in research 5:30 Implications of cancer prevention research on chronic diseases 11:40 Potential concerns in medical ethics and Big Pharma when developing groundbreaking treatments 13:20 Research on NRF2 and its role in treating Friedreich's Ataxia, a genetic mitochondrial disease that leads to motor neuron decline 18:00 What is a natural history study, and how was it used in Reata's FA clinical development? 22:50 The potential for clinical grade wearable devices 23:35 Determining clinical endpoints in clinical trials 26:00 The FDA's approval process for rare disease treatments 32:40 Potential for expanding newborn screening programs 36:00 The generalizability of NRF2-based research to other inflammatory diseases and diseases related to mitochondrial malfunction 39:40 What is Type 3 Diabetes? 40:30 Warren's career start as a lawyer and his journey to biotech 43:00 Searching for provocative biology 46:20 Major targets for the HSP program 48:30 Closing remarks and lessons in resiliency
Season 10 kicks off with ep221. Life is constantly changing, especially when living with progressive rare disease. Both Kyle & Sean are living with Friedreich's ataxia and their abilities are changing often. Recently, Sean hit a mini-golf course and although it wasn't what he remembers as a teenager, he still found ways to have fun. Ep221 reminds us that “fun” is what you make of it and how you define it. Links and Resources: Sean's Column - Living with Friedreich's ataxia doesn't mean I can't have fun
The War on Weed first started crumbling because of courageous cannabis patients like John, a super chill, funny and cool person to share some herb with who helps spread the word about the plant's miraculous medicinal properties among those who—like himself—have Friedreich's ataxia. According to the National Organization for Rare Disorders, Friedreich's ataxia is a genetic, progressive, neurodegenerative movement disorder affecting 1 in every 50,000 people. John explains how cannabis helps him treat and manage the condition, and also takes us through the truly great moment when he first spoke out (loud and proud) in public to let both the FDA and his fellow FA patients know about his own positive experiences with weed. An act that touched the lives of many other people who have since found therapeutic relief in cannabis! EPISODE ARCHIVE Visit our podcast feed for 90+ episodes of our classic Great Moments in Weed History format, and subscribe now to get a new weekly podcast every Weednesday. PATREON Please support Great Moments in Weed HIstory on Patreon. Supporters get exclusive access to video versions of this podcast and private seshes, plus cool rewards like a signed book. And it truly helps us make the best show possible
Dr. David Lynch discusses his paper, Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study)". Show references: https://onlinelibrary.wiley.com/doi/10.1002/ana.25934
Dr. Jason Crowell talks with Dr. David Lynch about the use of omaveloxolone for patients with friedreich ataxia. Read the related article in Annuals of Neurology.
Maneuvering a wheelchair presents many situations that are much different than a person who uses their legs to get around. When you offer to help someone in a wheelchair, here are a few things you should keep in mind. In this Episode: Kyle checks out a new section of bike trail so Sean wants to make sure he does it safely. You Got This, Mental Health featuring Kate Walker - Depression is common for people living with Rare Disease - Kate shares a bit of her experience dealing with depression. Sean brings his "Top Ten" list of annoyances while traveling in a wheelchair - constructive feedback for those who want to help. Thank you notes - The people who make bike trails happen, and Sean's editors at Friedreich's Ataxia News Links and Resources: Depression and anxiety in patients with different rare chronic diseases: A cross-sectional study
In this Episode: You Got This, Mental Health - Feeling seen and heard. Some of the responsibilty is on you. Can a single person make a difference? The amazing story of the first approved drug for Friedreich's ataxia (FA) Thank you notes - Reata Pharmmaceuticals, and Kyle's landlord at work. As the story goes, in an effort to do whatever she could for her son who lives with Friedreich's ataxia (FA), a concerned mother connected a few important dots about science and the pharmaceutical industry. When she decided to make a phone call to the Friedreich's Ataxia Resxearch Alliance (FARA), she started a series of actions and events that eventuallu led to the approval of the first treatment for FA, SKYCLARYS. Listen for the details. Links and Resources: Announcement: First Medication to Treat Friedreich's Ataxia Approved on Rare Disease Day!
In this Episode: The very first treatment for Friedreich's ataxia (FA) was approved last Tuesday! A deep dive into this next week. You Got This, Mental Health - There's not one "right" direction in life. Keep moving forward and making progress. Thank you notes - Clinical Team at Children's Hospital of Philadelphia and Sean's Personal Barista It's easy to second guess our choices and doubt our decisions. Although there may be more efficient steps to take or faster directions to follow to get to our destination, is there ever a wrong way? Hear The Dudes share their experiences and perspectives. Links and Resources: Sean's Column: Moving in a Positive Direction | Living With FA Reinforces My Commitment to Making Progress
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