Podcasts about Ataxia

In this episode, recorded on-site at the ASGCT 2026 Annual Meeting, Molecular Therapy Advances Associate Editor-in-Chief Dr. Dan Stone speaks with Dr. Dan DuBreuil of Sanofi. They break down the science behind a recent paper detailing the development of a secretable frataxin, highlighting its potential to improve treatment efficacy for Friedreich’s ataxia. Music: 'Electric Dreams' by Scott Buckley - released under CC-BY 4.0. www.scottbuckley.com.auShow your support for ASGCT!: https://asgct.org/membership/donateSee omnystudio.com/listener for privacy information.

For many years ataxias, especially the genetic forms, were considered untreatable diseases. In this episode Dr. Orlando Barsottini and Dr. Liana Rosenthal discuss the new advances in the treatment of ataxias and perspectives for the future.

Genetic ataxias have many non-motor features, such as fatigue, sleep disorders, and cognitive dysfunction. In this episode, Dr. Orlando Barsottini and Dr. Christofer Stephen discuss the most common non-motor symptoms and how to approach them.

Aoife Quinn who is living with Friedreich's Ataxia, is calling on the government to make the drug Skyclarys accessible here for patients who need it.

Send us Fan MailIn this episode meet Luke Spencer and Kat Yee. At age 12, Luke was diagnosed with Fredrich's Ataxia, and in May 2024, after a series of complications at the age of 25, he had a pacemaker put in that both Kat and Luke lovingly refer to C-3PO.This is the story of how Luke wanted to snorkelling in Fiji after his pacemaker was put in at the age of 25, and how Kat supported Luke as an Exercise Physiologist at NeuroMoves Lismore, and then as his support worker and most importantly, his friend when they finally got to snorkelling in Fiji at the end of 2025.We believe that stories lived experience is the best way for people to learn about disability and help take action. Information in this episodeNeuroMoves specialised exercise service https://neuromoves.org.au/Friedreich Ataxia (National Institute of Neurological Disorders and Stroke) https://www.ninds.nih.gov/health-information/disorders/friedreich-ataxiaSupanova Comic Con & Gaming https://www.supanova.com.au/C-3PO (Star Wars) https://en.wikipedia.org/wiki/C-3POCreditsThis episode has been written, produced and edited by Susan Wood. Logo art by Cobie Ann Moore.If you would like to email us with a podcast topic request email community@scia.org.au with the subject heading 'Podcast Topic Request'Spinal Cord Injuries Australia is a for-purpose organisation that supports people with a spinal cord injury and other neurological conditions. For more information about our supports and services, visit our Resource Hub at https://scia.org.au/resource-hub/.

Helen taks with Neil about the life dibilitalying disease that she is suffering from, Friedreich's Ataxia.

In this episode, Dr. Orlando Barsottini and Dr. Malco Rossi discuss the main imaging findings and clues for the the diagnosis of genetic and sporadic ataxias.

Dr. Gabriel Brooks is Chief Medical Officer at Solid Biosciences, a precision molecular genetic medicines company focused on rare cardiovascular and neuromuscular diseases, including Friedreich's ataxia. Currently, there are very limited treatments for this rare, progressive neurologic disease caused by a genetic deficiency. Solid Biosciences' novel gene therapy uses dual-route administration to deliver directly to the heart and brain and to replace the missing frataxin gene, which is critical for energy production. Dr. Brooks explains, "Our flagship program is our DMD program, where we have two clinical trials, a first-in-human INSPIRE study, and a double-blind randomized placebo-controlled phase three trial for the SGT-003 DMD medicine. And for Friedreich's ataxia, we have the SGT-212 program, which uses a novel dual route of administration to target not only the cardiomyopathy, but also uses direct injection into the dentate nucleus. We're trying to address the central pathophysiology of the ataxia that patients live with every day." "So Friedrich's ataxia is a rare and devastating neurologic disease that afflicts around 5,000 patients in the United States and much more actually in Europe. There is a genetic predisposition. And Friedrich's ataxia is really a disease where the patients experience difficulty in moving, what's called ataxia, which you could think of as poor coordination, where when they try to move, their brain is sending a signal to their muscles, let's say to grab that cup of coffee or climb the stairs." "In fact, there are specific neurologic tests in terms of looking at nerve conduction and other things that can make the formal diagnosis. And certainly, we can get there with genetic testing. And what you're picking up on is absolutely something that's important with rare disease, is that oftentimes there's a lag between when a patient first manifests symptoms and when they ultimately have the diagnosis. In Friedrich's ataxia, like other genetic diseases, it is horrible. And so, for patients who do make the diagnosis of Friedreich's ataxia, there is often what we call cascade screening, where we look for the disease gene in relatives. Oftentimes, it's then that siblings are identified, and eventually they start manifesting the disease as well."   #SolidBiosciences #GeneTherapy #GeneTherapyResearch #RareDiseases #FriedreichsAtaxia #PrecisionMedicine #Neurology #Cardiology #ClinicalTrials #MedicalInnovation #HealthcareInnovation #SolidBiosciences solidbio.com Download the transcript here

Dr. Gabriel Brooks is Chief Medical Officer at Solid Biosciences, a precision molecular genetic medicines company focused on rare cardiovascular and neuromuscular diseases, including Friedreich's ataxia. Currently, there are very limited treatments for this rare, progressive neurologic disease caused by a genetic deficiency. Solid Biosciences' novel gene therapy uses dual-route administration to deliver directly to the heart and brain and to replace the missing frataxin gene, which is critical for energy production. Dr. Brooks explains, "Our flagship program is our DMD program, where we have two clinical trials, a first-in-human INSPIRE study, and a double-blind randomized placebo-controlled phase three trial for the SGT-003 DMD medicine. And for Friedreich's ataxia, we have the SGT-212 program, which uses a novel dual route of administration to target not only the cardiomyopathy, but also uses direct injection into the dentate nucleus. We're trying to address the central pathophysiology of the ataxia that patients live with every day." "So Friedrich's ataxia is a rare and devastating neurologic disease that afflicts around 5,000 patients in the United States and much more actually in Europe. There is a genetic predisposition. And Friedrich's ataxia is really a disease where the patients experience difficulty in moving, what's called ataxia, which you could think of as poor coordination, where when they try to move, their brain is sending a signal to their muscles, let's say to grab that cup of coffee or climb the stairs." "In fact, there are specific neurologic tests in terms of looking at nerve conduction and other things that can make the formal diagnosis. And certainly, we can get there with genetic testing. And what you're picking up on is absolutely something that's important with rare disease, is that oftentimes there's a lag between when a patient first manifests symptoms and when they ultimately have the diagnosis. In Friedrich's ataxia, like other genetic diseases, it is horrible. And so, for patients who do make the diagnosis of Friedreich's ataxia, there is often what we call cascade screening, where we look for the disease gene in relatives. Oftentimes, it's then that siblings are identified, and eventually they start manifesting the disease as well."   #SolidBiosciences #GeneTherapy #GeneTherapyResearch #RareDiseases #FriedreichsAtaxia #PrecisionMedicine #Neurology #Cardiology #ClinicalTrials #MedicalInnovation #HealthcareInnovation #SolidBiosciences solidbio.com Listen to the podcast here

In this episode, Dr. Tony Ebel tackles one of the most common — and misunderstood — challenges in pediatric neurodevelopment: the "drunken bull." These are the kids who are clumsy, uncoordinated, low-toned, and always a step behind their peers physically. Dr. Tony breaks down why this is not a muscular problem, not something kids simply grow out of, and not solved by more reps in PT. He explains the true neurological root cause — subluxation and disrupted sensory input — and lays out the exact care plan, technique approach, and team-building strategy that gets these kiddos moving, thriving, and reaching their full athletic and academic potential. He also shares the personal story of his daughter Elena's journey through a growth-spurt-driven drunken bull season and what it took to get her back on track.-----Links & Resources:Learn more:Low Muscle Tone in Children with AutismHypotonia: The Neurological Roots Behind "Floppy Baby Syndrome"-----Key Topics & Timestamps00:05 Diagnostic Terms Parents Will Actually Hear: DCD, Hypotonia, Ataxia, Dyspraxia & More00:10 Yes, Drunken Bulls Can Get Better — Here's Where to Start00:12 The Three Areas Drunken Bulls Struggle: Physical, Academic & Emotional00:15 Why This Is a Neurological Problem, Not a Muscular One00:19 What Everyone Else Is Missing: The Brainstem & Cervical Spine Connection00:23 How Coordination Actually Works: Input, Processing & Output00:26 Why PT Alone Will Never Be Enough Without Clearing the Subluxation First00:30 Elena's Story: Six Inches in One Year & What We Did About It00:33 The Right Adjusting Frequency, Technique & Locations for Drunken Bulls00:40 What to Look for in a Neurologically-Focused PT00:44 Building the Right Care Team — and Who Doesn't Make the Cut-- Follow us on Socials: Instagram: @pxdocsFacebook: Dr. Tony Ebel & The PX Docs NetworkYoutube: The PX DocsFor more information, visit PXDocs.com to read informative articles about the power of Neurologically-Focused Chiropractic Care.Find a PX Doc Office near me: PX DOCS DirectoryTo watch Dr. Tony's 30 min Perfect Storm Webinar: Click Here

In this interview, Dr. Orlando Barsottini and Dr. Divyani Garg discuss the main forms of sporadic ataxias, how to approach them, and what steps not to miss.

Long-Term Effects of Brainstem Stroke: The Hidden Deficits No One Talks About Ty Hawkins was taking engagement photos with his wife the same day he was admitted to the ICU. That sentence alone captures something essential about brainstem stroke, and about the particular cruelty of its long-term effects. On the outside, Ty looked like a young man in love, celebrating a milestone. On the inside, his vision was blurring, his balance was failing, and one side of his face had begun to droop. By nightfall, he was in the hospital being told they had found a mass on his brain. That was June 2019. Ty was in his mid-twenties, working in sales at Verizon, playing competitive basketball, and building a life with the woman he was about to marry. The stroke caused by a bleed from a cavernous malformation in his brainstem carried a 25% survival rate. Of those who survived, only 10% made a significant recovery. Ty is now approaching year seven. He returned to work. He speaks publicly. He shares his story with a global audience that finds him through social media and reaches out to tell him he helped them keep going. And every single day, he still wakes up managing deficits that most people around him cannot see. What the Brainstem Controls — And Why Its Damage Lingers The brainstem is not a dramatic structure in the way the cortex is. It doesn't govern language, memory, or personality in ways that are immediately visible to an observer. What it governs is more fundamental: breathing, heart rate, digestion, balance, coordination, and the relay of sensory signals between the brain and the body. When a bleed occurs in the brainstem, as it did for Ty through a cavernous malformation, a cluster of abnormally formed blood vessels, the damage disrupts those foundational systems. The effects can be wide-ranging, deeply personal, and stubbornly persistent. They can also be almost entirely invisible to anyone who isn't living inside that body. For Ty, the long-term effects of his brainstem stroke include ataxia, double vision, gastroparesis, CRPS, and left-sided numbness and weakness. None of these are visible when he walks into a room. All of them shape his daily experience in ways that most people, including many in the medical system, never fully appreciate. Gastroparesis After Stroke: The Deficit Nobody Mentions Of all the long-term effects Ty lives with, gastroparesis is perhaps the least discussed in stroke recovery conversations and one of the most disruptive to daily life. Gastroparesis is a condition in which the stomach empties too slowly or incompletely, caused by disrupted communication between the brain and the vagus nerve. For Ty, this means the digestive signals that most people take for granted, hunger, fullness, and discomfort, are unreliable. He can eat three bites and feel as though he has finished a six-course meal. He can go hours without a hunger signal and needs to eat by clock rather than by sensation. When his nervous system is overwhelmed, his digestive system slows or stalls entirely. Gastroparesis after stroke is not a fringe experience. The brainstem governs the vagus nerve, which in turn governs gut motility. A brainstem stroke can interrupt that pathway in ways that create persistent digestive dysfunction, yet it rarely features in the standard conversations about stroke recovery. Survivors can spend years not understanding why their digestion is erratic, not connecting it back to the stroke, and not receiving targeted support. Ty found that movement and routine helped regulate his system. A morning sauna, regular exercise, and starting the day with warm tea and light fruit rather than a heavy meal gave his digestive system conditions in which it could function more predictably. These are not medical solutions, they are adaptive strategies built through seven years of learning his own body. CRPS and Ataxia: When the Nervous System Won't Stand Down “My daily pain level is a four or five. Someone not used to chronic pain would call it an eight or a nine.” — Ty Hawkins Complex Regional Pain Syndrome (CRPS) was misdiagnosed in Ty for several years as neuropathy. It presents as the brain becoming stuck in a fight-or-flight pain loop, sending persistent, amplified pain signals in response to stimuli that should not be painful at all. For Ty, this means clothing fabric can register as pain. Cold bed sheets can spike his discomfort through the roof. Water on his skin can hurt. Ataxia compounds this by disrupting muscle coordination when his nervous system becomes overwhelmed. His gait changes. His shoulder shakes when lifting overhead. Coordination that was once automatic, honed through years of competitive basketball, becomes unreliable when fatigue, overstimulation, or stress tips his nervous system past a threshold. Both conditions are neurological in origin. Both are invisible to the outside observer. Both require constant, conscious management. The Athletic Mindset as Recovery Infrastructure What gave Ty the internal architecture to manage all of this? He credits his coaches. Years of athletic training being pushed past comfort, being held to a standard of effort regardless of natural talent, learning that showing up and doing the work was non-negotiable, built in Ty a psychological framework that translated directly into rehabilitation. In the inpatient facility, he was wheeling himself to therapy sessions before the nurses came to collect him. After the first week, they stopped coming. They knew he would already be there. As the doctors noted during his rehabilitation: he was recovering faster than expected, and they attributed it directly to his athletic background. Not his talent. His work ethic. The Emotional Cost of Looking Fine Perhaps the most underappreciated long-term effect of Ty's brainstem stroke is the one least visible of all: the emotional toll of presenting as healthy while carrying a daily invisible burden. For years, Ty's type-A, athletic identity kept him moving forward, but it also kept him from fully acknowledging what he was carrying. It took until years three or four before he genuinely engaged with psychotherapy. Once he did, the progress he experienced was significant. He now starts every Monday with a therapy session. The shift that mattered most was learning to honour how he actually felt rather than how he wanted to feel. For male survivors in particular, the cultural conditioning to tough it out is deeply ingrained and actively harmful in the context of long-term stroke recovery. Emotional suppression does not make the load lighter. It makes it invisible to everyone, including the person carrying it. Recovery Has No Expiry Date Ty's most direct message to survivors is straightforward: don't limit your recovery to the first year. The brain does not set a deadline on neuroplasticity. He is approaching year seven and still noticing improvements. The triumph of this story is not that Ty is symptom-free. The triumph is that he has built a life of genuine meaning and contribution around an ongoing physical reality without pretending that reality doesn't exist. He's reached people on every continent with a message that is simple, honest, and badly needed: You can survive the statistics. You can carry the hidden weight. And you can keep getting better years after everyone else assumes the story is over. If you are navigating your own stroke recovery early or years in, Bill's book is a practical and honest companion for the journey: recoveryafterstroke.com/book And if the Recovery After Stroke community has been part of your path, consider supporting the show on Patreon: patreon.com/recoveryafterstroke This blog is for informational purposes only and does not constitute medical advice. Please consult your doctor before making any changes to your health or recovery plan. Ty Hawkins: Six Years After a Brainstem Stroke, Still Fighting the Battles You Can't See He survived a 25% chance brainstem stroke. Nearly 7 years on, Ty Hawkins reveals the hidden deficits that never made the headlines until now. Instagram Facebook LinkedIn Highlights: 00:00 Introduction: Long-Term Effects of Brainstem Stroke 05:54 The Day of the Stroke 11:35 Hospital Experience and Diagnosis 15:44 Mindset and Recovery 21:46 Therapy and Rehabilitation 24:25 Long-Term Effects of Brainstem Stroke 32:58 The Importance of Exercise in Recovery 38:21 Living with CRPS: A Daily Challenge 50:29 Emotional Resilience and Mental Health 01:01:28 Lessons Learned: Recovery Insights for Stroke Survivors Transcript: Introduction: Long-Term Effects of Brainstem Stroke Ty Hawkins (00:00) as I’m sleep. have a dream and It’s just I’m in a dark place and I just hear a voice and it says do you trust me and? I said well Absolutely, it said okay. Well, we have to go and I immediately wake up and I tap my wife and I say hey we should go to the hospital now and Then I go to the hospital so by day I’m taking engagement photos and by night. I’m in ICU immediately taken to the for a CAT scan and chest x-rays. Bill Gasiamis (00:30) Before we get into today’s conversation, I wanna take a moment to acknowledge something that I think a lot of people in this community quietly live with. The feeling that your looks finished to everyone else, but you know the real story. You’re still managing things every single day that nobody around you can see. If that’s you, this episode is going to hit home. My guest today is Ty Hawkins. Ty had a brainstem stroke in June, 2019. caused by a cavernous malformation, a bleed that carries a 25 % survival rate. He made it, he went back to work, he plays basketball, he looks great, and he is still nearly seven years later managing gastroparesis, CRPS, ataxia, and daily chronic pain that he rates at four or five, which he says most people would call an eight or nine. This is a triumphant story, not because every deficit is gone, but because Ty built a life of purpose and meaning around the ones that stayed. We’ll get into all of that in just a moment. Now turn2.ai is your AI health sidekick that keeps you up to date with personalized stroke recovery information each week. There are literally over 800 new things published every week on stroke. Turn2 searches everything new from the past week and sends you what’s most relevant, research, patient discussions. expert comments, trials and events. You can try for free and get 10 % off by scanning the QR code on the screen or clicking the link in the description below. And if you haven’t picked up a copy of my book yet, it’s available now at recoveryafterstroke.com/book. And now let’s get into the conversation Ty. Bill Gasiamis (02:13) Ty Hawkins, welcome to the podcast. Ty Hawkins (02:15) Thank you for having me. Bill Gasiamis (02:17) Thank you for being here. This is the second time we’ve tried to connect and have you on the show. Last time, if I recall correctly, you won an award or you graduated from somewhere. Ty Hawkins (02:30) I believe I had one either had a speaking engagement or I won an award where I wasn’t able to attend our our interview Bill Gasiamis (02:42) Yeah, what was the award? Do you recall? Ty Hawkins (02:47) That was a few years back. I don’t really recall offhand. I know there was a lot going on with me mentally at that time too. So I don’t really recall what it was. drawing a blank right now on that one. Bill Gasiamis (03:01) Yeah, fair enough. I do remember it was at least 12, maybe 18 months ago that we tried to connect. But that’s cool that you’re here now, man. Thanks for reaching out again. I was just going to ask like, what was your life like before the stroke? What were you up to? What was your regular day like? Ty Hawkins (03:21) So for me what I was up to both prior to my stroke I was really locked in and focused on my career. So I graduated college or university in 2015 and I was well into my career with Verizon here in the States and So my my day-to-day look pretty much like work and I was spending a lot of time just playing basketball because I played in college. So I was trying to, you know, ⁓ still keep up with the athletic side of me while getting my career off the ground. Bill Gasiamis (04:01) What kind of work did you do for Verizon? Ty Hawkins (04:05) So his Verizon, was at that time while I’m still in sales currently, but at that time I had just started my sales role and immediate like right prior to I was a sales manager, prior immediately prior to my stroke. Bill Gasiamis (04:21) huh. What was it like the day of the stroke? Or actually just before you answer that question, was there any signs that you were unwell, that there was potentially something looming, you know, anything give it away before the stroke that now you think that was probably a sign? Ty Hawkins (04:40) Absolutely. So looking back and now having the education and the awareness of stroke, know I remember just having numbness in my left foot ⁓ that started and felt like a little pebble in my left shoe. And I would take my shoe off and shake it out and nothing came out. And I had no idea that it was actually like the feeling in my foot. and it started to move up my leg and eventually ⁓ from my foot up to my shin, actually I felt pins and needles ⁓ and my foot was actually numb and I experienced a lot of headaches ⁓ immediately prior to the stroke. So for weeks I was having, I would have little headaches that I just thought was stress related from work. Bill Gasiamis (05:38) to the, what you just explained about your foot. That’s exactly what happened to me. My left, my big left toe went numb and then my entire left leg went numb, but it took me a week to get to the hospital. By then my entire left side had gone numb. So how long was it before you decided to do something about your numb foot and shin? The Day of the Stroke Ty Hawkins (05:54) Mm-hmm. So ⁓ it may have been a few weeks, honestly. So I just pushed through and thought it was because of work and just stress related to work. it took about a week or so till it actually moved, till actually my leg went numb. And I remember one day vividly my wife tickled my foot, my feet, I was ticklish. And she went to tickle my, she tickled, tickle my feet and I jumped when she tickled the right foot but I didn’t budge at all when she tickled the left foot and so that was a sign I still pushed through and I went to play basketball and I took a shot that it was routine for me and I missed very bad and there were guys at the gym I thought I had vertigo maybe some something in her ear and the guys at the gym like hey man Something seems off with you. I want you to get checked out before we play again in a few weeks. And so I decided to make an appointment to see my neurologist or not neurologist, my primary care physician. And I went through a routine checkup and everything kind of cleared. And so I had a decision to make that I want to tell her what was going on with my body though my vitals were good. And so I told her and she ran some tests like poked poked my foot and just was touching my leg with different ⁓ textures and eyes open eyes closed and I can only I only knew that she was touching me if I could see her. So when I closed my eyes and she touched me, I didn’t I had no idea. And so she sent me to for MRI and before or not for MRI, she sent me to a neurologist. And the neurologist scheduled me for MRI for the next week and I was in the hospital the very next day. Bill Gasiamis (08:04) Wow, man. You had a brainstem stroke from a cavernous malformation. I had a stroke caused by a arteriovenous malformation, which is very similar kind of issue with the way that the blood vessels have formed. My one popped and then started to bleed like really, really slowly. It sounds like yours did something similar. So Ty Hawkins (08:17) AVM, correct? Bill Gasiamis (08:33) you’re going through this for a couple of weeks, you go and see the neurologist and the next day you’re in hospital, how dramatically did it escalate between the neurologist appointment and the next day? Ty Hawkins (08:44) ⁓ So it escalated very very fast so the next day I woke up and it was that my engagement photo shoot so what a day right and Bill Gasiamis (08:57) Wow. Ty Hawkins (08:58) I’ll go to the bank I take a five-minute drive from my house to the bank and what happened on my way back is just off I couldn’t explain what was going on I just had an all feeling so I told my wife I wasn’t able to drive to any of the other appointments that I had that day prior to our shoot and on the way to our photo shoot so things progress by minute by minute hour by hour So I started the day she noticed a facial droop and we had no ideas of the sign She looked at me. She said are you okay? Cuz your face and I looked in the mirror and it was it was slight but So didn’t really think much of it and I was excited for our shoot So I just pushed through and on our way the photo shoot location was at our University where we met and that’s about 40 minute drive from our house so as we’re progressing through the drive my vision starts to get blurry and I can’t I can barely make out the vehicles that are around us I can only make out the color and the color of the license plate so I know that something’s there but it’s so blurry that I can’t even couldn’t tell you what kind of what kind of vehicle it was we actually get to the location for the shoot I get out the car and I can barely stand upright so ⁓ I Remembered trying to move and I was just so all balance and and dizzy and We did the shoot somehow some some way I made it through the shoot and I remember changing my clothes and ⁓ As I look back now I went into the bathroom to change my clothes and I was alone and I could I kept Tilted to the right while was trying to put my clothes on and my shoes and as I think back I’m so lucky I’ll say I’m so blessed to have made it out of that bathroom you know I’m back to the group and We finished the shoot and I go we drop home So my wife says do you want to go to the hospital or I said no, I won’t go home and I just want to rest ⁓ so She goes and picks us up some food. I’m at home. I remember taking maybe two, three bites of the food and just feeling so nauseous. Like, man, I can’t even, I’m not even hungry anymore. And so I say, I’m gonna go and take a nap. If I wake up and I feel the same as I do now, we can go to the hospital. And this is where the story really gets. Hospital Experience and Diagnosis It’s going because in my dream or as I’m sleep. have a dream and It’s just I’m in a dark place and I just hear a voice and it says do you trust me and? I said well Absolutely, it said okay. Well, we have to go and I immediately wake up and I tap my wife and I say hey we should go to the hospital now and Then I go to the hospital so by day I’m taking engagement photos and by night. I’m in ICU immediately taken to the back with them saying whatever the stroke they felt that the stroke code was or what they call it in the hospital. And I was immediately taken back for a CAT scan and chest x-rays. Bill Gasiamis (12:31) Wow, man, that is a crazy story. ⁓ Firstly, how did the photos turn out? Ty Hawkins (12:39) photos they turned out good I would say in spite of the circumstances but if you look at the photos in as you know as well as we understand stroke you can look at my face and see the the facial droop in my top lip so as I’m trying to smile you my smile wasn’t wasn’t aligned it was it droops slightly so the right side of my face was impacted so I had a juke going to the right But I would say they turned out well despite the circumstances for what the circumstances were Bill Gasiamis (13:17) All things considered. Yeah. That is unbelievable. This dream like who now this is going to get trippy. I know like who was that in your dream that gave you that information. Ty Hawkins (13:30) So for me, at that time, I mean even now, I say it was God for me, speaking to me and letting me know that I needed to get to the hospital. And then at the hospital, when the doctor came in to give the news that they found what they thought was a mass on my brain, I remember hearing seeing a figure in the corner of my room and hearing that same voice say remember that I’m going to protect you and so from there you know I just tied it that that was God with me through through the stroke Bill Gasiamis (14:12) I love it that that was God with you, man. Why not? That is amazing. And that the person or that spirit or the being was in the room with you as well. Reassuring you. Wow. Ty Hawkins (14:22) Yes. Yeah, it was was crazy. remember so it’s time almost simultaneous the the doctor was coming in to give the news and he was The door was off-center to my left. So I see he he came in and The figure was in the corner to the right So as he comes in my wife is looking like he has bad he looks like he has a face of bad news so he mentions that there’s They found a mess and Simultaneously, heard me remember I’m going to protect you so as the doctor leaves I look at my wife and I say I don’t know how to explain this but I’m going to be okay and You know as destroyed as she was You know, that’s what I could say to her I couldn’t really explain it in that moment But I told her and ⁓ I knew that I was going to be fine Bill Gasiamis (15:25) Wow, man. So I had some moments when they gave me the news. I was at the hospital alone. It was probably 11 p.m. at night. It was a Saturday night. No, it was a Friday night. I’d sent my wife and the kids home because I didn’t want them to wait for hours and hours to find out the news, go home and rest and look after the kids. They were young teenagers, both of them at the time. And I was… Mindset and Recovery I got the news it was there’s a mass on your brain or a shadow on your brain that appeared in the scan. It could be a brain bleed. It could be a tumor and that tumor could be benign. It could be cancerous. That’s the way they broke the news. And I remember being kind of like, ⁓ okay, whatever. And I was so. I was so nonchalant about it. He says to me, do you have any questions? And I said, no, not at this stage. And I left it at that. And I basically just took the news, went to bed, had a bit of a sleep because the next morning I was going to wake my wife, her to come to hospital. I had to tell her the news and I did that. She came. And after I told her the look on her face was the first time that I kind of got a little bit scared. And then I had to ring. my client and tell my client I’m not coming into work today ⁓ because I’m in hospital and there’s something wrong with my brain I don’t know what it is and I start crying. But even through all of the drama, the three brain bleeds over two and a half years, brain surgery, walking, even through all of that and all the problems that it caused us, me, my family, my work, it never crossed my mind that I wouldn’t get through this or wouldn’t get over it or beyond it. Now I am still dealing with it. I still have a podcast that I have to do. because if I don’t do, I don’t get my therapy every week. But do you know, I’m moving through it, beyond it, overcoming it. I never believed for one moment that it would be the thing that stops me, defines me, even though I’ve had dark days, dark weeks, dark months, I always expected that it would shift and something would come out from the other side. I don’t know whether… ⁓ I would ⁓ allocate that to God or something else, but I truly deeply believe that like it was within me and maybe it was kind of God like type of experience, but I love how you’re in technically like the worst day of your life health wise, it could go one way or another and you’re just thinking I’m going to tell my wife everything is going to be fine and ⁓ We’ll just get through this. I think that is something that sort of set the foundation for how you were going to approach the whole entire recovery after that, this experience that you had. Ty Hawkins (18:40) Yes, I think that definitely set the tone. Having that experience and not… I never felt in danger. I knew that the journey, this process, wasn’t going to be easy. But I never felt that I was in danger. That my life was in jeopardy. the diagnosis and the statistics that show if you have a bleed in your brain stem that the percentage of survival is 25. So that’s one in four people that based on statistics that experience what I do one in four people survive. And then of those that do survive, they say that 10 % just make a significant recovery. And I never felt. that I was battling against those statistics each day that from the moment I got the news it was a cool calm collected call my mom, my brother and that’s what my wife did and you know I just tried to stay as composed as possible ⁓ because I never felt in danger and I didn’t want them to worry too much ⁓ you know I knew it was going to be be difficult because I went from One day running up and down the basketball court to being bedridden and barely could function. I couldn’t write. I lost the perception on size of writing. I couldn’t walk. ⁓ I forgot how to walk, though my body forgot how to walk. I could mentally think, hey, I want to take these steps and get up out of bed, but I needed help. So I spent a week in the hospital. I spent three weeks in an inpatient rehab facility. So as I mentioned It was the day of our engagement shoot so our wedding was set for three months later And that’s all I could really think about was I have to get ready for this wedding I have to get ready for our wedding. I have to get ready for our wedding. So every day I woke up ⁓ You know my athletic mind is up for the challenge ⁓ You know, God told me that I was going to be okay. And I knew that I had to show up and do the work when I was taught on the basketball court and just in life, you just have you show up and you, you, you battle back against adversity. And I decided that yes, like you, didn’t want this to define me. I didn’t feel that this was going to be the end of, of my life. ⁓ I knew that it was going to be a chapter that I would never forget, but I knew that I was up for the challenge. Therapy and Rehabilitation Bill Gasiamis (21:40) I love that athletic mindset, right? Your coach probably drilled you for years, know, like get up, get going, keep going, keep moving, push through, overcome, ⁓ try harder, you know, be more strategic, whatever, like the whole athletic mindset applied to stroke recovery. I reckon it’s such a massive, ⁓ like it’s such a massive benefit to have that going into a diversity, like recovering from a significant health. ⁓ situation because I know that there are players on the field who are not the best players but they are the most impactful because they do the most work and they get given labels like he’s a natural or ⁓ he’s gifted or stuff like that and it’s like dude I couldn’t I couldn’t walk straight when I was a young kid. The only reason why I appear gifted or natural is because I work all day every day. You classic Michael Jordan ⁓ kind of approach where Jordan talks about being ⁓ always training, always shooting hoops, always ⁓ on the basketball court more than anybody, even though he was Ty Hawkins (22:52) you Bill Gasiamis (23:00) Appearing to be kind of naturally gifted because of his body shape because of his athleticism because of his height But it meant nothing if he didn’t do the work every single day Ty Hawkins (23:12) Yes, yes, and even you know from a spiritual perspective There’s the saying that faith without works is is dead And so for me I had the faith and I knew that I needed that there was work work required of me I think even after ⁓ my experience of so as I mentioned I spent three weeks in the inpatient facility once I understood the magnitude and how much my Long-Term Effects of Brainstem Stroke mindset really helped me through. I reached out to a lot of my coaches and you don’t understand when you’re young how they’re, man they’re pushing me so hard, they’re pushing me so hard and I’m like well I’m glad that they pushed me this hard because because of that I felt prepared for the adversity that I faced in June of 2019 so you know I remember reaching out and just saying thank you for being as hard on me as you were because it helped me through this. Who would have known that years later that discipline that you were, that I thought as a young adult would, you know, thinking that you’re just being tough on me and it’s really building characters, building a mindset. And I grew to appreciate that as I started to reflect back on, you know, on my journey because a lot of the doctors said, You’re I feel that you’re recovering so fast because you were an athlete in I wasn’t just an athlete I worked hard my I took pride in like you said that Michael being in the gym and Just really working hard. It was one thing I said hey You might be better than me, but it’s one thing that you’re not gonna you might have more talent than me But you’re not going to outwork me and you know, that was my mindset Bill Gasiamis (25:03) Hmm. Ty Hawkins (25:06) with recovery, it’s every day. Once I understood what therapies that I would have to do. ⁓ So I remember in the inpatient facility, my first week there, the nurses would come clip my schedule to my wheelchair and they would come get me for therapy. After the first week, they would come clip my schedule to the wheelchair and they’d never, they wouldn’t come to get me because they knew that I was going to be wheeling myself down the hallway to get to whatever session, OT, occupational therapy, physical therapy, or speech therapy that I knew what time I needed to be there and I was going to be there because I was determined to get better. Bill Gasiamis (25:52) I to ask for permission to walk back to the therapy room ⁓ on my own because they were afraid I was going to fall and it was fair enough because my left side wasn’t really working well after about two and a half, three weeks I was on my feet but I still was quite unstable and they said, look, we’re not gonna let you walk alone. We’ll come, but we won’t help you like we have been helping you. We’ll just watch you walk. I was like, yes, do that. I felt safe, but also I had the ability to just get myself there. They had handrails down the hallway and everything that I could hold onto. But of course I went near them, tried not to hold on, held on when I needed to. I did everything I could to be on my feet on my own so I can get the brain getting used to being on this weird left side of my body, which is numb, tingly. and not receiving information that the foot was on the ground. Like the brain wasn’t being told your foot’s on the ground, man, you know, like step or tension muscle or do the stride or whatever. So I remember going through that and I remember complaining because I was spending too much time in my bed. And I was like, guys, like, what am I doing here? This is boring. And I need to get into a session. I need to do something. And they were, well, You know, we have to have lunch and we have to have other things that we attend to after I write reports on you and all that kind of stuff. You can’t be eight hours a day just in the gym or in the therapy room or whatever. And I’m like, ⁓ okay. I didn’t realize there was other technical things that happened in the background that wasn’t that was related to me, but not the as part of the physical stuff. So in, so instead what I did is I Ty Hawkins (27:38) Thanks, Ted. physical, yes. Bill Gasiamis (27:49) imagined myself exercising, I imagined myself walking, I imagined what it would look like when I was on my feet, etc. Because it rewires the same part of your brain as if you’re actually doing it. So I thought, right, if you’re not going to be with me, ⁓ taking me for the actual therapy, I’m going to imagine myself doing the therapy. Ty Hawkins (28:11) No, I was the same so For me, I didn’t so I couldn’t really Walk in the big the first the first week I spent a lot of a lot of the duration of my three weeks I spent in the in a wheelchair there, but I was able to in The first week I needed a lot of help moving from the bed to the wheelchair But after a while I could get myself out of bed into the wheelchair, will to therapy. That’s why they didn’t come because I wasn’t necessarily walking. But when I did walk, I would have a walker and they would use, somebody would be with me. And I was the same way. I’m like, man, I’m in bed a lot. I’m only in therapy for an hour and a half each session. neural fatigue really, could appreciate my breaks because I was so, that hour took a lot out of me. But as my body reacclimated to the workload that it was receiving, ⁓ I was able to stay awake a lot better and my mom would then take me outside to do extra things. We would play toss for my hand. ⁓ She would toss the tennis ball. It would help me walk outside a little bit. Bill Gasiamis (29:11) Yeah, same. Ty Hawkins (29:37) But just, you would help, RMOF would help as much as they could for me to get extra, ⁓ some extra time and extra movement in outside of just the hour and a half that I was in the therapy session. Bill Gasiamis (29:52) Yeah, I love that. My parents came along as well. said to my wife and everyone came past and I spent time outside with them, you know, having some time in the sun, a meal, a coffee, something like that. That was really helpful. I think you and I also both benefited from the fact that the bleeds, although really serious, were not catastrophic bleeds and we had a lot of time to react. to our situation that we found ourselves in. I took seven days, you took weeks. And I think that was just pure, utter luck that the bleed was a little small enough to start impacting us in a very small way that we thought was not significant and not at risk of our health. And also we both benefit from looking like we haven’t had a stroke. No one can tell that you would have or I’ve had a stroke, but you are. Ty Hawkins (30:23) Please hit. Yes. Bill Gasiamis (30:47) also still though like me living with deficits right and you’ve got a few of them let me just read out the list you’ve got left-sided numbness and tingling which i have and weakness which i have but you’ve also got ⁓ a taxia which you’ll tell me about in a minute double vision ⁓ you’re going to also tell me about gastroparesis and crps so for someone that is so upbeat Ty Hawkins (30:51) Yes. Bill Gasiamis (31:16) looks like you do ⁓ like you haven’t had a strike, etc. You are experiencing some ongoing deficits years out. So first, tell me a little bit about a taxia. What’s that? Ty Hawkins (31:24) Yes. So ataxia is, impacts the muscle coordination. So when my nervous system gets overwhelmed, it almost scrambles my coordination. So sometimes it’ll impact my gait specifically. It really like impacts. Again my left side so I was impacted in the brain stem right side of face left side of body So it impacts a lot of and I’m left side dominant. So as I’m trying to lift weights or play basketball ⁓ I’ll have a I’ll feel what someone miscoordinated and so my coordination isn’t ⁓ Isn’t smooth once I get overwhelmed or My nervous system isn’t sending the signals properly then it impacts my running so then ⁓ doesn’t send the signals for all the muscles to fire in the proper chain and then it impacts Yeah, like my shoulder so we’re trying to like lift things overhead ⁓ then it’ll get shaky ⁓ But yeah, it’s pretty much just a lack of coordination for like to simplify things The Importance of Exercise in Recovery Bill Gasiamis (32:52) Okay, cool. Interesting. So I have a very minor version of that. My left side, probably not as coordinated as my right side anyway, because I’m right side dominant. But now my left side is just a little bit out, you know, and when I get tired, my balance goes off. And ⁓ I find myself leaning in one direction. I lean into the doorway, you know, when I’m really tired, getting out of bed in the morning, I need to make sure that my foot is on the ground so I don’t lose my balance. that kind of stuff. So tell me about gastroparesis. That’s one I haven’t come across a lot. Ty Hawkins (33:27) So, ⁓ just from having the brain stem is in control ⁓ of a lot of your, not basic functions, but your essential functions. So breathing, heart rate, digestion. So what gastroparesis is, is there’s ⁓ a lack of communication between my brain and the vagus nerve. which will then lead to my digestive system either pausing or moving slow, moving a lot more slowly. And so what that can lead to is a lot of stomach discomfort where I can have three bites of food and feel like I had a six or six course meal. ⁓ you know, and then when that system isn’t functioning properly, it leads to issues with like my skin and things like that. But Gastroparesis from my understanding is just either like a slowdown or paralysis of your digestive system. Bill Gasiamis (34:33) I hear you. Unexpected, ⁓ unexpected side effect of a stroke, right? People hear stroke, they, they know it’s associated to the head, but gastrointestinal issues become a massive problem for some people after stroke because the two are linked. And, you know, you can heal your brain by healing your gut. And when I say heal your brain, you can improve how it functions by healing your gut. ⁓ And like if you stop eating the standard American diet, standard Australian diet, same thing. If you stop eating that, you improve the gut conditions and that improves your brain, but also your other organs. But here you’ve got like a neurological disconnect sometimes when you’re overwhelmed by the vagus nerve that stops the standard basic functioning of your gut digestion. Like I imagine Ty Hawkins (35:29) Yes. Bill Gasiamis (35:31) you have a meal and it takes longer to digest or and therefore it causes discomfort therefore you are you avoiding food because of that? Ty Hawkins (35:41) Some days some days ⁓ You know and that it this one really my wife it’s you need to have you need to eat you need to have your meals and Like I’m not really hungry. It’s ⁓ is a lot of times I’m confused because I have such a discomfort in my stomach that I don’t know if I’m full or if is discomfort from you know, just just everything neurologically So I’ll have to try and guess like hey ⁓ Am I am I fool what did I eat yesterday? What did I have today already? So some days I found myself avoiding food Just because I think that if I do I’ll give my system time to either catch up or slow down ⁓ So simply put I do as I’m thinking about it. I do avoid foods at times Bill Gasiamis (36:35) Hmm. Yeah, it makes sense that you would. And I met a guy many years ago, we’re talking about maybe 10 years ago, who had a similar thing to you, but a little more dramatic in that he didn’t get hunger messages at all. So he had to eat only when other people were eating as a reminder that it’s time to eat. if he didn’t do that, he wouldn’t ever get the message that you have to eat. You haven’t eaten for four days or five days. Ty Hawkins (37:15) I’ll get you know I think that sometimes that that may happen where I’m just not getting the signal and but I’m aware that hey I know I need to eat I’m aware that maybe it’s been a day or I have a workout coming up that I know I need to eat for and sometimes it can just be I can have a banana and It feels like I had a full a steak dinner with potatoes and a vegetable and like wow just from a banana and a glass of water and then some days my appetite is normal where I think once I find you know my routine I found a routine of sitting in a sauna and working out and ⁓ eating regimen so in the morning I would have I’ll have a cup of warm tea Living with CRPS: A Daily Challenge And if I’m not overly hungry or have a gym session, I’ll just have some fruit like a fruit salad and I’ll feel light and my digestive system appreciates that. And then ⁓ my body responds well to the heat. So I’ll try to sit in the sauna or exercise to get myself to sweat. And that seems to help my systems kind of stay in syncing and rhythm. So when I do that, my appetite is pretty normal, but when I find myself either overwhelmed, just neurologically or from the stresses of the day, then systems just start to go out of whack. Bill Gasiamis (38:55) I hear you. Exercise is so important. Like doesn’t matter what condition you’re in after stroke, you got to find a way to move your body as much as possible. And it causes so many positive cascades in your body that you, the bang for buck by exercising that your brain and body gets, it’s just unmeasurable. You cannot measure it. It’s so, so important. ⁓ And I love that you experienced direct benefits that you’re aware of. when you exercise. Ty Hawkins (39:27) Yes, and that’s that’s the physical benefits and it’s also been very Beneficial mentally to mentally emotionally because a lot of people don’t Really when you hear a stroke and you think a recovery is just hey the physical recovery and hey you look great tie and like I Do look great, but internally some days I don’t and mentally some days I don’t but I know that When I get, when I go to the gym and I work out, my mood is, it’s night and day when I don’t and when I do. And so I committed to, ⁓ working out as much, even if it’s just going outside for a in the neighborhood, getting outside, fresh air, it’s, have to move my body because if I don’t, that’s when things, you know, physically, mentally, and emotionally just start to break down. Bill Gasiamis (40:23) Yeah, we are meant to be moving. We’re moving creatures, you we’re meant to be moving, not sitting down too much, you know, driving desk work, all that kind of stuff is not normal. And we’re to be doing the, the physical version of getting somewhere like walking somewhere or, you know, running or, riding a bike. And if you can’t get on a bike, get a one of those sit down three wheeler bikes. If you need a walker, walk with a walker. you know, whatever the situation is, find a way around it because exercising is hard, not exercising is hard, but like far harder. Ty Hawkins (41:11) Yes, yes, I just I made a video about that and I posted it Maybe two days ago about the gym and I woke up I was a little tired and I still got up and I went to the gym and after I said that same thing that Though I got the hard work done. The work was hard, but not moving is hard too. It may not be immediately hard but it’s hard on your body not moving it adds up over time and ⁓ it’s what kept me I think not I think I know it’s what kept me the movement that I did early on paid off you know the doctors every session it was a lot of movement ⁓ and even now I’m just conscious of I may reach in the cabinet to get a cup but I’m You know extending my arm more more than the one time to get the cup because that’s that’s therapy You know a lot of people have this ⁓ Miss conception that therapy is just that one hour in the therapy environment I try to find everything to be therapy Reaching for a cup reaching for a plate eating ⁓ You know the steps that I take around the house ⁓ even just dancing you know I’m not I don’t have the, I have a little rhythm, but I’m not the best dancer, but music and moving my body just as I feel was something that was very, you know, beneficial for me. And it took me back to think when we were children and we’re kids, we just have these, what we think as adults is random movements. We’re folding ourselves like pretzels and spinning in circles. And it’s like, hey, this is what, body is meant to be freely moving and we kind of lose track of that once we get to work or school sit at a desk for eight hours sit in a vehicle for long long drives and you know so on and so forth then we forget that we take for granted you know moving the ability to move our bodies until you know our bodies show us like hey you know this is the repercussions sometimes of you not moving your body. Bill Gasiamis (43:34) I love that. That’s a beautiful way to wrap that up is by saying the repercussions of not moving your body. It’s exactly what it is. They occur. Your hips get tight, your joints change in their ability to handle stress. Your bones get ⁓ thinner. You know, like so many things change in a negative way. You got to move even if you’re doing a real, you know, if you have a real challenging stroke experience and stroke. ⁓ deficits, you just got to move as much as you can. I love I love that ⁓ that approach. So you also are now dealing with CRPS. Now I’ve heard of that before, but describe that and what it’s like for you. Ty Hawkins (44:18) ⁓ So it was misdiagnosed for some years as just neuropathy Which is the numbness and tingling on my left side? So if I if you were to look at me and draw a straight line down My right side feels What do you know the ⁓ normal person would feel you know? ⁓ It’s just freely flowing it feels normal right and my left side is just You know, constant daily pain. You know, I feel something, ⁓ whether it’s in, you know, my leg, my arm, ⁓ you know, ⁓ it can be even having clothes on like this jacket right now is sending signals to my brain that ⁓ my arm is in pain and I’m not in pain clearly, but my brain is sending signals that me having this jacket on this material brushing up against my arm. ⁓ It’s painful water hitting my skin painful and my paint but That you know depending on the temperature you know if they’re cool at the bed sheets are cold of Pain level rises through the roof. ⁓ Yeah, it hurts But you know a lot of you know my mindset Bill Gasiamis (45:23) What about the big shades? What about big shades? Yeah. Ty Hawkins (45:44) I don’t know. just I don’t complain about it and it’s like hey, you know, this is what I have to deal with So it’s constant like times. I feel it deep within my abdomen. I’ll feel it in my shoulder ⁓ You know, but CRPS it attacks ⁓ It’s essentially your brain just signaling that it is your brain stuck in a fight-or-flight cycle and it’s constantly Signaling that there’s some it’s a threat or some kind of pain is happening. So From putting the sneaker on, it’s really been attacking, as of lately, my left ankle and my left foot. certain shoes, I can feel the pain deep in the bones in my foot. And then sometimes I’ll just feel like ⁓ a very deep ache in my shoulder. Or if the temperature gets cold enough, it’ll feel like somebody’s just grabbing, know, just has a hold on my rib cage. and ⁓ you know so that’s Lightly to put CRPS what I think for me because I’m so used to the pain now is that my I always say daily I have a pain level of ⁓ four four to five where somebody that’s not used to chronic pain would say it’s eight or a nine and ⁓ Some days it’s frustrating Some days it’s tiring, know, the sensation varies. It’s a numbness and tingling to a deep bone-jarring ache to almost a burning sensation at times, like depending on how much I’m moving. Like, so if I were to move with this jacket right now, as I move my arm, then there’s a deep pain in my tricep and then a very deep pain from the wrist to my fingertips. And sometimes it’ll make me, like people, I’ll stand and I’ll just be squeezing my hands and people may think that I’m just, you know, just holding my hands, but I’m trying to let my body know that it’s okay. So I’m, you know, massaging or rubbing and ⁓ sometimes that helps or sometimes I just have to, you know, take a nap or close off other sensors to calm the brain down. Bill Gasiamis (48:11) my wife gets in trouble when she touches my left hand and she’s being gentle. If she’s being gentle, it’s like, dude, do not do that. She’s like, what do you mean? I’m being gentle. being rough. Don’t just be gentle with it. It hurts too much. It’s hurting now. And I’m in an enclosed room with no wind, no anything, but my left arm feels like it’s cold. Ty Hawkins (48:16) Mm-hmm. Yeah. Yeah. Bill Gasiamis (48:38) freezing while my right side is perfectly fine. You know, it’s a very mild, beautiful day outside. ⁓ the wind, when I go outside, if I’m wearing shorts and a t-shirt, the wind makes it hurt. And if I go to the beach, I have to wear, ⁓ what we call runners, trainers, joggers in the water because the little pebbles of sand, they feel like they’re, I just stepped on like a thousand pins. Ty Hawkins (49:01) Mm-hmm. Bill Gasiamis (49:07) or something, it’s just ridiculous. And then I sleep on my left side so that I can, like you do with your hand, you just squeeze it to just let it know like it’s okay. I sleep on my left side so the sheets don’t rub on my left side and I don’t get woken up by my sheets in the middle of the night. That’s how I kind of get around it. And I would say that my pain is around a three to a four, mostly. Ty Hawkins (49:08) you Go. Emotional Resilience and Mental Health Bill Gasiamis (49:37) kind of closer to a three. And when we go for a long walk, sometimes I’ll go for a long walk with my wife. If we’re visiting a city that we’ve never been to before, we love to see the city on foot the whole time. And we might be walking for four, five, six hours through the whole day after, you know, stopping for a coffee or something to eat or whatever. And my left side will be going, we are not doing this anymore. We’re completely done. And I will have to have a conversation in my head with my left side and say, you’re coming along for the ride because you are overreacting. The right side is perfectly fine, which means that I haven’t done anything to hurt my body. haven’t over exerted ourselves. So you’re just overreacting. Be quiet and let’s get on with it. And believe it or not, man, that works. That quietens things down. and then we just get on with the job of walking and seeing what we need to see. Ty Hawkins (50:38) Yes, yes, so the two things my wife, ⁓ so she likes to pick at my skin sometimes whether she sees a little pimple or something and I’m like, please not today. It’s days that I can tolerate it, but it’s days where, and in the beginning she didn’t understand. I didn’t either and I’m like, am I just overreacting? I’m like, no, this really hurts. And so as I started to understand my diagnosis, I explained it to her and she’s been. Bill Gasiamis (50:49) you Ty Hawkins (51:07) you know more aware and I’ll let her know if it’s like hey I’m fine today it’s good so you’re good to go and two I remember ⁓ she loves Disney so we went to Disney World for her birthday and that’s a lot of walking a lot of people so ⁓ and when I get overstimulated then sometimes I get a little irritable So we’re walking and then, you know, I’m like, have to control my emotions. And then like you have a conversation with myself, like, Hey, my right side is not tired at all. My right side, we can go, we can go. And I’m like, Hey, we are, ⁓ we are okay. We’re, we are totally fine. This is a walk in the park. It’s a lot of people. Yes, but we are okay. We are safe and I wouldn’t do, I let my body know it’s nothing that I’m not putting you in any harm’s way. We’re just walking. And we may have to slow the pace down a little bit. But then as I get back in rhythm, then I found myself, okay, we’re back. We’re back to speed. And I really think that, like you say, it’s you having that mindset and then telling yourself. So day two in Disney, day one, I didn’t know what to expect. But day two is like, hey, we’re having this pep talk before we even go outside. We’re not, we’re cooperating today. We’re going for a walk and it’s going to be a long day. So. let’s go and as long as I have comfortable shoes and I think you know and I walk take breaks and able to sit down at times and you know my body then it’s like starts to trust in a lot that he’s going to take care of me so you know I have those conversations too in those same experiences. Bill Gasiamis (52:58) I relate to that so much, man. I get stuck. You know that feeling that you get in your hand? I get it in the ball of my left foot. It just becomes really, really tight. Like it feels, it doesn’t close up or anything, but it becomes really, really tight. And I can’t do anything to… undo it, you know, so I’ve got to like sit there, massage it, massage it, just try and get the tendons and all of that stuff to move into work. That’s kind of like the only way that I can, that I can get through it, but I have to get regular massages. get a massage every once every about 10 days on my left side to loosen everything up. Otherwise it just puts my right side out as well, because then it starts impacting the other side of my body. Ty Hawkins (53:35) Mm-hmm. Yeah, because you start to overcompensate. Yeah, I do the same while I start going for those kind of weird here’s movement, movement recovery. So I do a lot of things to move my body stretch recovery and things like that. I actually have an appointment tomorrow afternoon to do that. Bill Gasiamis (53:45) Hmm. Yeah, it’s so important. ⁓ Little, little things that kind of help you get through the next 10 days or two weeks or whatever it is, make such a difference if you can make it to a massage or if you can get your body look at that. It really helps. I find it helps me mentally more than anything because it eases all of those ⁓ discomforts and then my brain can just feel a little bit relaxed, you know, for a few days. Ty Hawkins (54:20) Yes. Bill Gasiamis (54:28) four days, 10 days, whatever it is, you whatever I get out of it. ⁓ And some days I feel like, man, need to see that. I need to see somebody right now. And I can’t get an appointment, but then by the time I get to the next day, it’s settled. Ty Hawkins (54:38) Mm-hmm. Yes. Bill Gasiamis (54:45) So sometimes the cycle requires me to just sort of stop, rest and not push through and just allow it to settle down. Ty Hawkins (54:54) No, yeah, I definitely think that allowing some days for the body to just rest and you know kind of catch up and recover does does the brain and body very well? ⁓ You know, I think I know for myself I was so Engulfed in I have to do something every day every day and keep my body moving that I wasn’t allowing it to rest in I remember even on the basketball court, had a day off from practice. it’s, I have to allow my body time to rest and also my brain. you know, when we’re constantly thinking how can I improve, that’s actually putting, you know, some stress on our brain. ⁓ You know, that I started to learn to try to limit and just say, hey, I’m taking a day off. I don’t even want to. think about what I may have to do. I just want to be here in the moment. I just want to enjoy a movie today or just spend time with the family and not think about anything recovery related. Bill Gasiamis (56:00) Yeah, it’s so important to you. You need time out, man. I hear you. ⁓ So you’re you’re being a few through a few tests and you’ve had some challenges to overcome. You’ve made it through your generally very positive, upbeat, glass half full kind of guy. But there probably was some dark times and difficult moments. How did you? Like how did you deal with them? How do you kind of navigate when it gets really tough and challenging emotionally and mentally? Ty Hawkins (56:34) Before I used to just try to keep myself busy at first not realizing that that was almost making it worse in a sense because I was never dealing with the emotion of What I experienced I never allowed myself allowed myself to fully understand and feel it until recently and so recently I started Started talk therapy psychotherapy. ⁓ that’s been tremendous. And then also just really taking time to reflect, I’ll do yoga, I’ll meditate, and you know, I’ll just get more vulnerable about my story I share with people, and I think that allows me to make it through just being honest with myself. I think that the type A athletic mind that I have, it was like, hey, you’re fine, you’re fine, you’re fine, you’re okay, and I never allowed myself to say, you’re not okay. Once I did I think that was when I started to see more progress because I was honoring how I truly felt versus how I wanted to feel And it was hey some days I told my just recently maybe maybe two days ago. So my mom, know was it was a rough day and I was like hey this sucks mom and She was like, know, yes you you have to honor and it’s okay to say that that it It does suck, but know it’s you show gratitude that you’re still alive to experience have the experience of life But understand you know you have to honor how you feel in the moment, and it’s for me. I’m able to Shift quicker out of those moments now because it’s like hey I honor it this sucks may have a little cry then immediately after it better then have a little laugh and like hey, okay, you know so I just Understand that there’s the range of emotions in its waves. So instead of going against the tide I just roll with the waves these days and you know is if I’m sad I just sit with it in the moment I talk to whoever I need to talk to and you know, let them know hey today is a bit harder of a day rather than you’re okay. You’re okay. You’re strong and I eliminated that ego and just honored how I feel because I think especially as men, we’re we’re taught to, you know, just tough it out, get up and dust it off. And it’s like, hey, we’re human at the end of the day and we all have So I think it’s better to honor your emotions. You know, we all have them for a reason, ⁓ you know, so it’s okay to cry. It’s okay to feel sad, you know, and work through that and you’ll eventually, hopefully we’ll see happiness, enjoy on the other side. Bill Gasiamis (59:30) Yeah, there is always a, what’s it like a reward on the other side of the hard time. Like you might not know when you’re going through the hard time, but it always leads to a positive outcome on the other side. You just got to give a time to get there. You know, got to just go through the ride and I’m similar to you talk therapy, man. Well, what a difference that’s made in my life. It just is so tremendous that you find somebody by the way, who you like to go and talk to. ⁓ So you might have to try a couple of different therapists, but like it is next level. You go there, you could talk about anything you want. Nobody’s judging you. You know, don’t have to share that with your loved ones. You can just be yourself and a different version of yourself in that room. that again, it just takes more weight off your shoulders. It creates more lightness. So I’m fully behind that. Ty Hawkins (1:00:26) Yes, yes, it’s been, it’s made a tremendous difference for me and I see, you know, this is, moving into year seven and early on I refused to go to therapy and, ⁓ you know, I think it wasn’t, it wasn’t until year three or four that I really decided to see, really dig in and understand therapy and realize that, it’s not just, I talk about the stroke less and less now. and just about life. It helps me every Monday. It’s a great start to my week. Bill Gasiamis (1:01:03) Man amazing start to your week. Well done. I love it that it’s every Monday Your where are you doing this recording from now, where are you? Lessons Learned: Recovery Insights for Stroke Survivors Ty Hawkins (1:01:14) Actually, I’m actually at work. ⁓ so I was able to return to work. ⁓ Fortunately, so I’m back with with Verizon ⁓ You know Emma in my sales role, so I was able to return to my career and In addition to my career being able to speak and do things like that. But currently I’m at work We’re getting ready to close up shop soon But they gave me the time because they they are very accommodating and understanding how important this is to me and they support me here on my journey. Bill Gasiamis (1:01:48) Wow. This episode is not sponsored by Verizon, but thank you Verizon for allowing this to happen, man. Yeah. We love it. All right. I really appreciate that. ⁓ sounds like the stroke incident has shaped your life in a meaningful way. Ty Hawkins (1:02:08) Yes, yes it has. would say I was a very selfish person before and I don’t mean that like ⁓ in a bad context. was I just thought about myself and my goals and not how my life could impact others. And after the stroke, just being, you know, given this story and seeing how I had no idea that me sharing that I had a stroke and My recovery would lead to a social media following and people looking to me for, you know, hope and inspiration that it was like, wow, you know, I’m actually am somebody that can impact. now it’s, you know, I live to help others. That’s why I continue to share almost seven years later and stay in touch with, with people and help try to provide resources that, you know, You know, just be a resource for people that go through this or loved ones, you know, to anybody who goes through this or any adversity, just to show, my story is a testament that, you know, adversity does hit, but you can make it through. You know, it starts with a mindset and a great community. And, you know, I’m very proud of my story and, know, where I am now and the person that I have become despite, you know, that unfortunate circumstance and event. Bill Gasiamis (1:03:37) Yeah, I’m with you, man. I love what you said about like, how you you’re impacting, you know, you’re aware of how you can impact people, we impact people all the time, negative, positive, whatever it is all the time, you may as well focus the needle towards positive. If you become aware of it, you know, it’s way better. You get much more reward than just being about yourself. I mean, what a Ty Hawkins (1:03:54) Yes. Bill Gasiamis (1:04:03) And I was the same, like we all kind of start there. You know, it’s about how do I succeed? How do I make the next dollar? How do I do this? How do I do that? And then at some point you shift. And for me, the catalyst was the strokes for you. It seems like it was the same thing. And the reward that I never thought I would get from shifting the needle towards helping other people has been way, way greater than anything I ever ⁓ focused on before. because it’s more of a global reward. It’s less of a focused, narrow reward, which is, know, money, car, house, you know, vacation. It’s now. a feedback loop from other people and I get messages on the podcast every single day on YouTube, emails, people going this episode really has made a difference to my life or I loved hearing that story from that person, know, the comments make it so worth doing. It is amazing. Ty Hawkins (1:05:03) Yes, yes, yeah, for me the message is hey, you know, your story helped me make it through or it helps me you serve as the inspiration and I don’t do it for that but it just helps. You know, it’s just good, a good feeling knowing that, you know, this isn’t in vain and that I’m able to impact people, especially in places that I’ve never

Cases of late-onset cerebellar ataxias are a challenge for neurologists. In this episode Dr. Orlando Barsottini and Dr. José Luiz Pedroso discuss new advances on the investigation of late-onset cerebellar ataxias and identification of new genes.

Biotechs have been pricing follow-ons at a steady pace, with some companies parlaying data into upsized deals, and others even beginning to debut on NASDAQ — but will geopolitical tensions and war in the Middle East scuttle the forward momentum? On the latest BioCentury This Week podcast, BioCentury's analysts take the temperature of the markets for biotech."They also discuss last week's late-stage epilepsy data from Xenon Pharmaceuticals, which revived the biotech's stock and the Kv7 target.And, in a Rare Disease Spotlight, BioCentury's analysts discuss how Friedreich ataxia is moving into a mechanistic second act, with biotechs pivoting from stabilizing the mitochondrial damage caused by frataxin loss to developing therapies designed to fix the gene itself.View full story: https://www.biocentury.com/article/658810#BiotechMarkets #EpilepsyResearch #Kv7 #RareDisease #GeneTherapy00:00 - Introduction03:23 - Market Sentiment09:58 - Xenon Phase III Win18:03 - Friedreich Ataxia PipelineTo submit a question to BioCentury's editors, email the BioCentury This Week team at podcasts@biocentury.com.Reach us by sending a text

In this episode, Dr. Orlando Barsottini and Dr. Bart van de Warrenburg discuss the importance of precise neurological examination and classification of ataxias. The further discuss the rational etiological investigation for cases of ataxia and how to utilize different clinical assessments.

Send a textThomas Hamilton is a Board Director Friedreich's Ataxia Research Alliance   ( FARA - https://www.curefa.org/ ), Co-Founder of the CureFA Foundation ( https://curefafoundation.org/ ), which supports diverse and innovative research strategies aimed at curing the disease, and the Founder of FA212, LLC, an organization pursuing a novel gene therapy strategy designed to address both central nervous system and systemic manifestations of FA.Thomas' journey into rare disease advocacy began not in a laboratory, but at home when in 2013, his nine-year-old daughter Annie was diagnosed with Friedreich's Ataxia — a rare, progressive neuromuscular disorder that affects balance and coordination and can lead to scoliosis, diabetes, sensory loss, and serious cardiac complications. Friedreich's ataxia (FA) is a rare, inherited, progressive neurodegenerative disorder caused by a mutation in the FXN gene, which leads to a deficiency of the frataxin protein.Like many families facing a rare diagnosis, the Hamilton family was suddenly thrust into a world of uncertainty, limited treatment options, and an urgent need for answers.Rather than accept the status quo, Thomas made the life-altering decision to step away from his professional career and dedicate himself fully to accelerating therapeutic progress for FA.Thomas joined the executive leadership of the Friedreich's Ataxia Research Alliance (FARA), where he remains an active board member, and co-founded the CureFA Foundation to support diverse and innovative research strategies aimed at curing the disease.In 2014, working alongside family members and clinical partners, Tom helped establish an FA Center of Excellence at Children's Hospital of Philadelphia  ( https://www.research.chop.edu/friedreichs-ataxia-center-of-excellence ) in collaboration with University of Pennsylvania — creating a dedicated clinical and research hub for patients and scientists focused exclusively on Friedreich's Ataxia. Driven by the belief that bold approaches were needed, Thomas also founded FA212, LLC to pursue a novel gene therapy strategy designed to address both central nervous system and systemic manifestations of FA. That program has evolved into SGT-212, now being advanced by Solid Biosciences ( https://www.solidbio.com/our-science/pipeline-programs/pipeline/ ).The therapy has entered human clinical evaluation through the FALCON study ( https://clinicaltrials.gov/study/NCT07180355 ), with the first participant recently dosed at Ohio State University Wexner Medical Center — marking a milestone not only for the Hamilton family but for the broader FA community.Today, Annie is 19 and a student at University of Notre Dame, living with FA while witnessing firsthand the progress her family helped catalyze.Thomas and Annie's story represents the growing power of parent-driven innovation in rare disease — where urgency, collaboration, and perseverance can reshape the therapeutic landscape.#FriedreichsAtaxia #RareDisease #GeneTherapy #SGT212 #FALCONTrial #RareDiseaseAdvocacy #PatientAdvocate #RareDiseaseResearch #BiotechInnovation #MitochondrialDisease #Ataxia#PrecisionMedicine #ClinicalTrials #HopeInScience #CureFA #FARA#NeurodegenerativeDisease #MedicalBreakthrough #ParentAdvocate#ProgressPotentialPossibilitiesSupport the show

Reporter, Róisín Cullen speaks to campaigners calling for a treatment for Friedrich's Ataxia to be approved on the Irish market.

Moderator: João Durães (Coimbra, Portugal) Guests: Paola Giunti (London, UK), Lidia Sarro (Milan, Italy) In this episode, João Durães, Paola Giunti and Lidia Sarro provide a rigorous examination of the diagnostic and therapeutic landscape of treatable ataxias, focusing on rare variants. The discussion first delineates autoimmune etiologies, such as anti-GAD, paraneoplastic, and gluten-related syndromes, before transitioning to a detailed review of acquired and genetic metabolic disorders, including vitamin deficiencies, NPC, Refsum disease, Glut1 deficiency, CTX, and Wilson's disease among others. By highlighting critical clinical and paraclinical "red flags," the contributors offer a framework for accelerating differential diagnosis. The session concludes with an analysis of contemporary pharmacological advancements, notably the recent EMA approval for Friedreich's Ataxia and the efficacy of repurposed drugs in treating genetic forms such as EA1/2 and SCA27B.

In this episode, we review the high-yield topic of⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Ataxia-Telangiectasia⁠⁠ from the Immunology section.Follow⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media:Facebook: www.facebook.com/medbulletsInstagram: www.instagram.com/medbulletsofficialTwitter: www.twitter.com/medbullets

In this inspiring episode of the Authors On Mission podcast, host Danielle Hutchinson sits down with Jennifer Gasner to explore the powerful story behind her memoir My Unexpected Life. Diagnosed with Friedreich's Ataxia at just 17, Jennifer spent nine years crafting a book that became both a healing process and a bold act of advocacy.She opens up about the emotional hurdles of writing vulnerable truths, the importance of a supportive creative network, and her decision to pursue hybrid publishing for greater control and impact. Jennifer also shares practical strategies for authors navigating physical challenges—like embracing voice-to-text technology and reframing fear into forward momentum.

Our guest this week is Jeff Wallis, of Valparaiso, IN who is a veterinarian and father of who had a son with Hypotonia, Ataxia, Developmental Delay, and Tooth-Enamel Defects Syndrome (HADDTS) an extremely rare but serious genetic condition caused by a mutation in the CTBP1 gene.Jeff and his wife, Mindy, have married for 22 years and are the proud parents of Charles 18, who very sadly past away in May, who had Hypotonia, Ataxia, Developmental Delay, and Tooth-Enamel Defects Syndrome (HADDTS) an extremely rare but serious genetic condition caused by a mutation in the CTBP1 gene.We learn about a host of organizations that played a key role in the Wallis family and on behalf of Charles including; the HADDTS Foundation, University of Chicago Genetics, Kids Work and Jacob's Ladder.  We also learn about an epic cross country RV trip the family took with Charles during COVID to provide him with some extraordinary memories. While Charles lived a relatively short life, the Wallis family story one is about making the most of the situation and celebrating life.Show Notes -Phone – (219) 771-6129Email – wallisje1@yahoo.comHADDTS Foundation –  https://www.haddtsfoundation.org/Jacob's Ladder - https://www.jacobskids.org/Special Fathers Network -SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 800+ SFN Mentor Fathers, who are raising kids with special needs, have said: "I wish there was something like this when we first received our child's diagnosis. I felt so isolated.  There was no one within my family, at work, at church or within my friend group who understood or could relate to what I was going through."SFN Mentor Fathers share their experiences with younger dads closer to the beginning of their journey raising a child with the same or similar special needs. The SFN Mentor Fathers do NOT offer legal or medical advice, that is what lawyers and doctors do. They simply share their experiences and how they have made the most of challenging situations.Check out the 21CD YouTube Channel with dozens of videos on topics relevant to dads raising children with special needs - https://www.youtube.com/channel/UCzDFCvQimWNEb158ll6Q4cA/videosPlease support the SFN. Click here to donate: https://21stcenturydads.org/donate/Special Fathers Network: https://21stcenturydads.org/  SFN Mastermind Group - https://21stcenturydads.org/sfn-mastermind-group/Special thanks to SFN Mentor Father, SFN Mastermind Group dad and 21CD board member Shane Madden for creating the SFN jingle on the front and back end of the podcast.. 

Have you ever been told you couldn't do something? That's what happened to today's guest, Shelbi Davenport. Years ago, Shelbi was told she wouldn't be able to attend college due to her disability. However, she didn't take "NO" for an answer. Shelbi Davenport is a disability advocate, podcaster, and speaker. After many struggles and victories, Shelbi graduated from Texas A&M. Being awarded the first Peer-to-Peer Training certification in Texas on February 5th, 2017, was one of her greatest achievements. Shelbi's passion is to change lives by teaching individuals with disabilities to advocate for themselves and dream big. Shelbi played a big role in advocating for HB 2081 (a bill that would allow Universities to receive more funding for post-secondary programs), which passed not too long ago. Shelbi is currently attending school to get her Master's Degree in Mental Health.You can check out her Shelbi Show on Facebook or Spotify. Check out her website at http://betterlivespcp.com.Her mom's book, "Thanks For Telling Her No" can be purchased here.Send us a textTEDx Talk, Disrupt HR Talk

In this episode, we explore Friedreich's ataxia:  what it is, the key clinical signs and symptoms, how it is diagnosed, and the essential aspects of ongoing care. 

Andrew Rosen, Chief Executive Officer of the National Ataxia Foundation, has a dual mission of accelerating research for treatments and cures for Ataxia while supporting the patients affected by this rare disease. Ataxia describes both a group of hereditary genetic diseases and symptoms of lack of coordination seen in other conditions.  While genetic tests exist for hereditary Ataxia, a significant challenge in drug development has been the lack of a reliable biomarker. To encourage drug development, NAF has funded translational research and the world's most extensive study for SCAs, Spinocerebellar Ataxias, providing new data on the progression of the disease and for the design of future trials. Andrew explains, "NAF has been around for a long time. We were founded in the late 1950s by a neurologist in western Minnesota who had a disease called Ataxia in his family. And NAF's mission has really been twofold ever since that. Our formal statement is that we are trying to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. And so we really focus on research and support. We do a lot in the research world. We fund grants for researchers who are looking into the various types of Ataxia. You'd be hard pressed to find an Ataxia researcher in the world, I think I can say now at this point that hasn't received a grant from NAF at one time or another in their career. We also do a lot of translational-type research. We fund the largest natural history study in Ataxias."   "So, the term ataxia itself is even complex because it both describes a genetic disease, and I think of that as capital 'A' - Ataxia, but it's also a symptom of many other conditions. So small 'a', if you will. Ataxia just means a lack of coordination. It comes from a Greek word. And so what I mean by both hereditary and other things is if you, for instance, have too much to drink, you would show signs of Ataxia. You might stumble when you walk, and your speech might be slurred. Those are the two classic symptoms of hereditary Ataxia. Right. So that's really the Ataxias that we at NAF focus on. So hereditary, as in passed from parent to child, there are several hundred forms of hereditary Ataxia, and they continue to find more as more specific genetic mutations are discovered year after year now."  #NationalAtaxiaFoundation #Ataxia #PatientAdvocacy #RareDisease #SCA ataxia.org Download the transcript here

Andrew Rosen, Chief Executive Officer of the National Ataxia Foundation, has a dual mission of accelerating research for treatments and cures for Ataxia while supporting the patients affected by this rare disease. Ataxia describes both a group of hereditary genetic diseases and symptoms of lack of coordination seen in other conditions.  While genetic tests exist for hereditary Ataxia, a significant challenge in drug development has been the lack of a reliable biomarker. To encourage drug development, NAF has funded translational research and the world's most extensive study for SCAs, Spinocerebellar Ataxias, providing new data on the progression of the disease and for the design of future trials. Andrew explains, "NAF has been around for a long time. We were founded in the late 1950s by a neurologist in western Minnesota who had a disease called Ataxia in his family. And NAF's mission has really been twofold ever since that. Our formal statement is that we are trying to accelerate the development of treatments and a cure while working to improve the lives of those living with Ataxia. And so we really focus on research and support. We do a lot in the research world. We fund grants for researchers who are looking into the various types of Ataxia. You'd be hard pressed to find an Ataxia researcher in the world, I think I can say now at this point that hasn't received a grant from NAF at one time or another in their career. We also do a lot of translational-type research. We fund the largest natural history study in Ataxias."   "So, the term ataxia itself is even complex because it both describes a genetic disease, and I think of that as capital 'A' - Ataxia, but it's also a symptom of many other conditions. So small 'a', if you will. Ataxia just means a lack of coordination. It comes from a Greek word. And so what I mean by both hereditary and other things is if you, for instance, have too much to drink, you would show signs of Ataxia. You might stumble when you walk, and your speech might be slurred. Those are the two classic symptoms of hereditary Ataxia. Right. So that's really the Ataxias that we at NAF focus on. So hereditary, as in passed from parent to child, there are several hundred forms of hereditary Ataxia, and they continue to find more as more specific genetic mutations are discovered year after year now."  #NationalAtaxiaFoundation #Ataxia #PatientAdvocacy #RareDisease #SCA ataxia.org Listen to the podcast here

Fiona Cauley joins Mark and Sam for a wild one — from Vegas hangovers and bad hecklers to the real talk about living with Friedreich's Ataxia, hitting the road, and crushing Kill Tony. They get into Charlie Sheen's crack-fueled charm, awkward sex-club stories, and Fiona's unreal crowd-work moment that connected her with a gene-therapy exec who might actually help cure her disease. Dark jokes, big laughs, and plenty of heart in this one. Sponsored by: Go to https://Lucy.co/DRUNK and use promo code DRUNK to get 20% off your first order. Go to https://quince.com/drunk for free shipping on your order and 365-day returns. To get simple, online access to personalized, affordable care for ED, Hair Loss, Weight Loss, and more, visit https://Hims.com/DRUNK. Subscribe to We Might Be Drunk: https://bit.ly/SubscribeToWMBD Merch: https://wemightbedrunkpod.com/ Clips Channel: https://bit.ly/WMBDClips Sam Morril: https://punchup.live/sammorril/ticketsMark Normand: https://punchup.live/marknormand/tickets — Produced by Gotham Production Studios: https://www.gothamproductionstudios.com @GothamProductionStudios | Producer: https://www.instagram.com/mrmatthewpeters #WeMightBeDrunk #MarkNormand #SamMorril #FionaCauley #ComedyPodcast #StandUpComedy #BodegaCatWhiskey #Lucy #Quince #Hims #GothamProductionStudios Learn more about your ad choices. Visit megaphone.fm/adchoices

Dr. Lauren Jackson discusses recent clinical trials, genetic updates, and interesting research in the field of ataxia.

In this episode, we review the high-yield topic of ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Friedrich Ataxia⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ from the Neurology section at ⁠⁠⁠⁠Medbullets.com⁠⁠⁠⁠⁠⁠Follow⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media:Facebook: www.facebook.com/medbulletsInstagram: www.instagram.com/medbulletsofficialTwitter: www.twitter.com/medbulletsLinkedin: https://www.linkedin.com/company/medbullets

Fiona Cauley is a funny, redheaded, skinny legend on wheels. You may know her from her multiple appearances on ‘Kill Tony', and now that she's a full-time comedian, she's ready to hit the ground rollin', so look out for dis bitch!!!! And enjoy as she and Maddy shoot the shit - they discuss Fiona's daily life with Friedreich's Ataxia, new meds, life on the road, how to prepare for multiple career pops, and more!Call the FUPA Hotline: (347) 480-9006Follow Fiona:https://www.instagram.com/fionacauley/?hl=enhttps://fionacauley.com/Follow Maddy:https://www.instagram.com/somaddysmith/?hl=enhttps://www.tiktok.com/@somaddysmith?lang=enAll tour dates: https://punchup.live/maddysmith/ticketsWant more Mad House?!Go to https://gasdigital.com/ to subscribe!Use promo code MAD to save big on your membership :)Get early access to our weekly episodes on Tuesdays, along with EXCLUSIVE episodes every Thursday.Get your Mad House x Skankfest 2025 merch here: https://gasdigitalmerch.com/products/maddy-smith-portrait-teeUPCOMING STAND UP DATES:10/10-10/11 BELLMORE, NY10/17-10/18 VIRGINIA BEACH, VA10/23 MINNEAPOLIS, MN10/30-11/1 WASHINGTON, DC11/7-11/8 BOCA RATON, FL11/12 NEW YORK, NY11/20-11/23 TACOMA, WASee Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

In this episode, host Parm Padgett interviews Dr. Sarah Milne about different rehabilitation strategies for physical therapists working with people with degenerative cerebellar ataxias. Dr. Milne shares results from her clinical trials, as well as tips and treatment approaches from her time in Friedreich Ataxia Clinic.  If you're curious about components of effective rehabilitation for degenerative ataxias, this episode is for you!  For questions about this podcast, please contact neuroddsig@gmail.com.  Show notes available at: https://app.box.com/s/1c3b6g4jgih64skasv1kxrwg3gji9nko

Ataxia is a neurologic symptom that refers to incoordination of voluntary movement, typically causing gait dysfunction and imbalance. Genetic testing and counseling can be used to identify the type of ataxia and to assess the risk for unaffected family members. In this episode, Katie Grouse, MD, FAAN, speaks with Theresa A. Zesiewicz, MD, FAAN, author of the article “Ataxia” in the Continuum® August 2025 Movement Disorders issue. Dr. Grouse is a Continuum® Audio interviewer and a clinical assistant professor at the University of California San Francisco in San Francisco, California. Dr. Zesiewicz is a professor of neurology and director at the University of South Florida Ataxia Research Center, and the medical director at the University of South Florida Movement Disorders Neuromodulation Center at the University of South Florida and at the James A. Haley Veteran's Hospital in Tampa, Florida. Additional Resources Read the article: Ataxia 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 Full episode transcript available here Dr Jones: This is Dr Lyell Jones, Editor-in-Chief of Continuum. Thank you for listening to Continuum Audio. Be sure to visit the links in the episode notes for information about earning CME, subscribing to the journal, and exclusive access to interviews not featured on the podcast. Dr Grouse: This is Dr Katie Grouse. Today I'm interviewing Dr Theresa Zesiewicz about her article on ataxia, which appears in the August 2025 Continuum issue on movement disorders. Welcome to the podcast, and please introduce yourself to our audience.  Dr Zesiewicz: Well, thank you, Dr Grouse. I'm Dr Theresa Zesiewicz, otherwise known as Dr Z, and I'm happy to be here. Dr Grouse: I have to say, I really enjoyed reading your article. It was a really great refresher for myself as a general neurologist on the topic of ataxia and a really great reminder on a great framework to approach diagnosis and management. But I wanted to start off by asking what you feel is the key message that you hope our listeners will take away from reading your article. Dr Zesiewicz: Yes, so, thanks. I think one of the key messages is that there has been an explosion and renaissance of genetic testing in the past 10 years that has really revolutionized the field of ataxia and has made diagnosis easier for us, more manageable, and hopefully will lead to treatments in the future. So, I think that's a major step forward for our field in terms of genetic techniques over the last 10 years, and even over the last 30 years. There's just been so many diseases that have been identified genetically. So, I think that's a really important take-home message. The other take-home message is that the first drug to treat Friedreich's ataxia, called omaveloxolone, came about about two years ago. This was also a really landmark discovery. As you know, a lot of these ataxias are very difficult to treat. Dr Grouse: Now pivoting back to thinking about the approach to diagnosis of ataxia, how does the timeline of the onset of ataxia symptoms inform your approach? Dr Zesiewicz: The timeline is important because ataxia can be acute, subacute or chronic in nature. And the timeline is important because, if it's acute, it may mean that the ataxia took place over seconds to hours. This may mean a toxic problem or a hypoxic problem. Whereas a chronic ataxia can occur over many years, and that can inform more of a neurodegenerative or more of a genetic etiology. So, taking a very detailed history on the patient is very important. Sometimes I ask them, what is the last time you remember that you walked normal? And that can be a wedding, that can be a graduation. Just some timeline, some point, that the patient actually walked correctly before they remember having to hold onto a railing or taking extra steps to make sure that they didn't fall down, that they didn't have imbalance. That sometimes that's a good way to ask the patient when is the last time they had a problem. And they can help you to try to figure out how long these symptoms have been going on. Dr Grouse: I really appreciate that advice. I will say that I agree, it can sometimes be really hard to get patients to really think back to when they really started to notice something was different. So, I like the idea of referencing back to a big event that may be more memorable to them. Now, given that framework of, you know, thinking through the timeline, could you walk us through your approach to the evaluation of a patient who presents to your clinic with that balance difficulties once you've established that? Dr Zesiewicz: Sure. So, the first thing is to determine whether the patient truly has ataxia. So, do they have imbalance? Do they have a wide base gait? That's very important because patients come in frequently to your clinic and they'll have balance problems, but they can have knee issues or hip issues, neuropathy, something like that. And sometimes what we say to the residents and the students is, usually ataxia or cerebellar symptoms go together with other problems, like ocular problems are really common in cerebellar syndromes. Or dysmetria, pass pointing, speech disorder like dysarthria. So, not only do you need to look at the gait, but you should look at the other symptoms surrounding the gait to see if you think that the patient actually has a cerebellar syndrome. Or do they have something like a vestibular ataxia which would have more vertigo? Or do they have a sensory ataxia, which would occur if a person closes his eyes or has more ataxia when he or she is in the dark? So, you have to think about what you're looking at is the cerebellar syndrome. And then once we look to see if the patient truly has a cerebellar syndrome, then we look at the age, we look at---as you said before, the timeline. Is this acute, subacute, or chronic? And usually I think of ataxia as falling into three categories. It's either acquired, it's either hereditary, or it's neurodegenerative. It can be hereditary. And if it's not hereditary, is it acquired, or is it something like a multiple system atrophy or a parkinsonism or something like that? So, we try to put that together and start to narrow down on the diagnosis, thinking about those parameters. Dr Grouse: That's really a helpful way to think through it. And it is true, it can get very complex when patients come in with balance difficulties. There's so many things you need to think about, but that is a great way to think about it. Of course, we know that most people who come in to the Movements Disorders clinic are getting MRI scans of their brains. But I'm curious, in which cases of patients with cerebellar ataxia do you find the MRI to be particularly helpful in the diagnosis? Dr Zesiewicz: So, an MRI can be very important. Not always, but- so, something like multiple system atrophy type C where you may see a hot cross bun sign or a pontine hyperintensity on the T2-weighted image, that would be helpful. But of course, that doesn't make the diagnosis. It's something that may help you with the diagnosis. In FXTAS, which is fragile X tremor/ataxia syndrome, the patient may have the middle cerebellar peduncle sign or the symmetric hyperintensity in the middle cerebellar peduncles, which is often visible but not always. Something like Wernicke's, where you see an abnormality of the mammillary bodies. Wilson's disease, which is quite rare, T2-weighted image may show hyperintensities in the putamen in something like Wilson's disease. Those are the main MRI abnormalities, I think, with ataxia. And then we look at the cerebellum itself. I mean, that seems self-evident, but if you look at a sagittal section of the MRI and you see just a really significant atrophy of the cerebellum, that's going to help you determine whether you really have a cerebellar syndrome. Dr Grouse: That's really encouraging to hear a good message for all of us who sometimes feel like maybe we're missing something. It's good to know that information can always come up down the line to make things more clear. Your article does a great review of spinal cerebellar ataxia, but I found it interesting learning about the more recently described syndrome of SCA 27B. Would you mind telling us more about that and other really common forms of SCA that's good to keep in mind? Dr Zesiewicz: Sure. So, there are now 49 types of spinal cerebellar ataxia that have been identified. The most common are the polyglutamine repeat diseases: so, spinocerebellar ataxia type 3 or type 2, type 6, are probably the most common. One of the most recent spinocerebellar ataxias to be genetically identified and clinically identified is spinocerebellar ataxia 27B. This is caused by a GAA expansion repeat in the first intron of the fibroblast growth factor on chromosome 13. And the symptoms do include ataxia, eye problems, downbeat nystagmus, other nystagmus, vertical, and diplopia. It appears to be a more common form of adult-onset ataxia, and probably more common than was originally thought. It may account for a substantial number of ataxias, like, a substantial percentage of ataxias that we didn't know about. So, this was really a amazing discovery on SCA 27B. Dr Grouse: Now a lot of us I think feel a little anxious when we think about genetic testing for ataxia simply because there's so many forms, things are changing quickly. Do you have a rule of thumb or a kind of a framework that we can think of as we approach how we should be thinking about getting genetic testing for the subset of patients? Dr Zesiewicz: Sure. And I think that this is where age comes into play a lot. So, if you have a child who's 10, 11, or 12 who's having balance problems in the schoolyard, does not have a history of ataxia in the family, the teachers are telling you that the child is not running correctly, they're having problems with physical education, that is someone who you would think about testing for Friedreich's ataxia. A preteen or a child, that would be one thing that would be important to test. When you talk to your patient, it's important to really take a detailed family history. Not just mom or dad, but ethnicity, grandparents, etc. And sometimes, once in a while, you come up with a known spinal cerebellar ataxia. Then you can just test for that. So, if a person is from Portugal or has Portugal background and they have ataxia and the parents had ataxia, you would think of spinal cerebellar ataxia type 3. Or if they're Brazilian, or if the person is from a certain area of Cuba and mom and dad had ataxia and that person has ataxia, you would think of spinal cerebellar ataxia type 2. Or if a person has ataxia and their parent had blindness or visual problems, you may be more likely to think of spinal cerebellar ataxia type 7, for example. If they have that---either they have a known genetic cause in in the family, first degree family, or they come from an area of the world in which we can pinpoint what type we think it is---you can go ahead and get those tests. If not, you can take an ataxia comprehensive panel. Many times now, if you take the panel and the panel is negative, it will reflex to the whole exome gene sequencing, where we're finding really unusual and more rare types of ataxia, which are very interesting. Spinal cerebellar ataxia type 32, spinal cerebellar ataxia type 36, I had a spinal cerebellar ataxia type 15. So, I think you should start with the age, then the family history, then where the person is from. And then, if none of those work out, you can get a comprehensive panel, and then go on to whole exome gene sequencing. Dr Grouse: That's really, really useful. Thank you so much for breaking that down in a really simple way that a lot of us can take with us. Pivoting a little bit now back towards different types of acquired ataxias, what are some typical lab tests that you recommend for that type of workup? Dr Zesiewicz: Again, if there's no genetic history and the person does not appear to have a neurodegenerative disease, we do test for acquired ataxias. Acquired ataxias can be complex. Many times, they are in the autoimmune family. So, what we start with are just basic labs like a CBC or a CMP, but then we tried to look at some of the other abnormalities that could cause ataxia. So, celiac disease, stiff person syndrome. So, you would look at anti-glutamic acid decarboxylase antibodies, Hashimoto's---so, antithyroglobulin antibodies or antithyroperoxidase antibodies would be helpful. You know, in a case of where the patients may have an underlying neoplasm, maybe even a paraneoplastic workup, such as an anti-Hu, anti-Yo, anti-Ri. A person has breast cancer, for example, you may want to take a paraneoplastic panel. I've been getting more of the anti-autoimmune encephalitis panels in some cases, that were- that are very interesting. And then, you know, things that sometimes we forget now like the syphilis test, thyroid-stimulating test, take a B12 and folate, for example. That would be important. Those are some of the labs. We just have on our electronic chart a group of acquired labs for ataxia. If we can't find any other reason, we just go ahead and try to get those. Dr Grouse: Now, I'm curious what you think is the most challenging aspect of diagnosing a patient with cerebellar ataxia? Dr Zesiewicz: So, for those of us who see many of these patients a day, some of the hardest patients are the ones that---regardless of the workup that we do, we've narrowed it down, it's not hereditary. You know, they've been through the whole exome gene sequencing and we've done the acquired ataxia workup. It doesn't appear to be that. And then we've looked for parkinsonism and neurodegenerative diseases, and it doesn't appear to be that either; like, the alpha-synuclein will be negative. Those are the toughest patients, where we think we've done everything and we still don't have the answer. So, I've had patients in whom I've taken care of family members years and years ago, they had a presumed diagnosis, and later on I've seen their children or other family members. And with the advent of the genetic tests that we have, like whole exome gene sequencing, we have now been able to give the patient and the family a definitive diagnosis that they didn't have 25 years ago. So, I would say don't give up hope. Retesting is important, and as science continues and we get more information and we make more landmark discoveries in genetics, you may be better able to diagnose the patient. Dr Grouse: I was wondering if you had any recommendations regarding either some tips and tricks, some pearls of wisdom you can impart to us regarding the work of ataxia, or conversely, any big pitfalls that you can help us avoid? I would love to hear about it. Dr Zesiewicz: Yeah, there's no easy way to treat or diagnose ataxia patients. I've always felt that the more patients you see- and sounds easy, but the more patients you see, the better you're going to become at it, and eventually things are going to fall into place. You'll begin to see similarities in patients, etc. I think it's important not only to make sure that a person has ataxia, but again, look at the other signs and symptoms that may point to ataxia that you'll see in a cerebellar syndrome. I think it's important to do a full neuroexam. If a person has spasticity, that may point you more towards a certain type of ataxia than if a person has no reflexes, for example, that we see in Friedreich's ataxia. Some of the ocular findings are very interesting as well. It's important to know if a person has a tremor. I've seen several Wilson's disease cases in my life with ataxia. They're very important. I think a full neuroexam and also a very detailed history would be very helpful. Dr Grouse: Tell us about some promising developments in the diagnosis and management of ataxia that we should be on the lookout for. Dr Zesiewicz: The first drug for Friedreich's ataxia was FDA-approved two years ago, which was an NRF2 activator, which was extremely exciting and promising. There are also several medications that are now in front of the FDA that may also be very promising and have gone through long clinical trials. There's a medication that's related to riluzole, which is a medication used for amyotrophic lateral sclerosis, that has been through about seven years of testing. That is before the FDA as well for spinal cerebellar ataxia. Friedreich's ataxia has now completed the first cardiac gene therapy program with AAV vectors, which- we're waiting for full results, but that's a cardiac test. But I would assume that in the future, neurological gene therapy is not far behind if we've already done cardiac gene therapy and Friedreich's ataxia. So, you know, some of these AAV vector-based genetic therapies may be very helpful, as well as ASO, antisense oligonucleotides, for example. And I think in the future, other things to think about are the CRISPR/Cas9 technology for potential treatment of ataxia. It is a very exciting time, and some major promising therapies have been realized in the past 2 to 3 years. Dr Grouse: Well, that's really exciting, and we'll all look forward to seeing these becoming more clinically applicable in the future. So, thank you so much for coming to talk with us today. Dr Zesiewicz: Thank you. Dr Grouse: Again, today I've been interviewing Dr Theresa Zesiewicz about her article on ataxia, which appears in the August 2025 Continuum issue on movement disorders. Be sure to check out Continuum Audio episodes 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, you'll love the journal, which is full of in-depth and clinically relevant information important for neurology practitioners. Use the link in the episode notes to learn more and subscribe. AAN members, you can get CME for listening to this interview by completing the evaluation at continpub.com/audioCME. Thank you for listening to Continuum Audio.

This podcast and accompanying promotional content has been created in collaboration with and funded by  Biogen. This information is intended for healthcare professionals. The presented content includes mentions of the Skyclarys▼ (omaveloxolone) EU-approved label. Prescribing information for omaveloxolone can be found here. Friedreich's ataxia (FA) is a rare genetic disease that can affect children and adults and cause progressive neurodegeneration, loss of physical function, multiple comorbidities, and even premature death. In this episode, two well renowned experts, Dr Louise Corben and Dr Wolfgang Nachbauer discuss the diagnostic journey for patients with FA, disease progression and the importance of working with multidisciplinary teams in the development of management strategies.

This week we talk with Alexis Baker.  Alexis, 25, was diagnosed with Friedreich ataxia (FA) five years ago and since then, has been using her voice and social media platforms to raise awareness for the rare disease. Alexis recently started a foundation, RiseUpFA, whose goal is to raise money to provide new walkers and wheelchairs for those in need. She currently lives in Tennessee, loves fashion and is currently planning a wedding to her fiancée.   Friedreich's ataxia is a rare, inherited disease. It damages the spinal cord, peripheral nerves, and the cerebellum part of the brain. It also leads to heart problems. This disease tends to develop in children and teens. It slowly gets worse over time. Unsteady, awkward movements and a loss of feeling due to nerve injury develop as the disease gets worse. People with this disorder may have other health problems, such as diabetes and heart disease, along with nervous system symptoms. (credits Johns Hopkins)

Welcome back to Research Renaissance, presented by the Karen Toffler Charitable Trust. In this episode, host Deborah Westphal explores the cutting edge of rare disease research with special guests Andrew Rosen, CEO of the National Ataxia Foundation (NAF), and Dr. Lauren Moore, NAF's Chief Scientific Officer.Together, they unpack how the NAF has evolved from a small support-focused nonprofit into a strategic, science-driven organization that's advancing treatments and reshaping what's possible for people living with ataxia—a rare, progressive neurological condition affecting movement and coordination.

In this episode, host Ken Vinacco talks with guests Andrew Rosen and Ashley Durando to discuss the National Ataxia Foundation mission and resources.The Degenerative Diseases Special Interest Group is part of the Academy ofNeurologic Physical Therapy – www.neuroPT.orgFor questions about this podcast, please contact neuroddsig@gmail.com.Guest InformationAndrew Rosen, CEO of the National Ataxia FoundationAshley Dorundo, PT, DPT, DD SIG Liaison to the National Ataxia FoundationResources from the NAFhttps://www.ataxia.org/763-553-0020naf@ataxia.orgCenters of Excellence: https://www.ataxia.org/ace/No-cost genetic testing program: https://www.ataxia.org/genetics/Support Groups: https://www.ataxia.org/support-groups/NAF Events: https://www.ataxia.org/events/Health Care Provider Resources: https://www.ataxia.org/provider-resources/Fact sheets: https://www.ataxia.org/fact-sheets/Exercise videos: https://www.ataxia.org/exercise/General references: https://www.ataxia.org/general-references/Citation: Rosen A, Dorundo A, Vinacco K. DD SIG Navigating the Path Episode 5: The National Ataxia Foundation. 4D: Deep Dive Into Degenerative Diseases, a podcast of the ANPTDegenerative Diseases Special Interest Group. Published 07/31/2025.https://podcasts.neuropt.org/?p=1985This is for informational and educational purposes only. It should not be used as a substitute forclinical decision making. The Academy of Neurologic Physical Therapy and its collaborators disclaim any liability to any party for any loss or damage by errors or omissions in this publication. The views or opinions expressed are those of the individual creators and do not necessarily represent the position of the Academy of Neurologic Physical Therapy.

Jennifer Gasner's journey is a compelling testament to resilience in the face of adversity, as she shares her profound experiences following her diagnosis of Friedreich's ataxia at the tender age of seventeen. Initially met with shock, Jennifer transformed her struggle into a powerful narrative of determination and advocacy, actively participating in disability rights movements and fostering a sense of community among those facing similar challenges. Her academic pursuits culminated in a BA in English and a master's degree in recreation, illustrating her unwavering commitment to personal growth despite the constraints imposed by her condition. In her recent work as an author, she encapsulates her life experiences in her memoir, "My Unexpected Life: Finding Balance Beyond My Diagnosis," which seeks to inspire others by conveying that individuals with disabilities possess inherent worth and capabilities. Through this episode, we delve into her insights and the invaluable lessons gleaned from her journey, illuminating the path toward acceptance and empowerment for all individuals navigating the complexities of disability.A profound exploration of resilience and self-advocacy manifests through the narrative of Jennifer Gasner, who faced the daunting diagnosis of Friedreich's Ataxia at the tender age of seventeen. Initially met with shock, her journey evolved as she adeptly transitioned from the challenges of mobility to embracing life in a wheelchair. Throughout her academic pursuits, including a Bachelor of Arts in English and a Master's in Recreation, Jennifer's commitment to disability advocacy crystallized. As a prominent figure at the Wisconsin Independent Living Centers, she championed disability rights, intertwining her personal experiences with her advocacy work. Her relocation to San Diego marked a new chapter where she continued to mentor youth and promote awareness about neuromuscular diseases as a FARA ambassador. This episode delves into her story, highlighting her transition from a diagnosis filled with uncertainties to a life defined by empowerment and hope, urging listeners to perceive disability through a lens of capability rather than limitation.Takeaways: The podcast features Jennifer Gasner, who has bravely navigated life with Friedrich's Ataxia since her diagnosis at age 17. Jennifer transitioned from walking to using a wheelchair, demonstrating immense determination and resilience throughout her journey. She has actively contributed to disability advocacy, emphasizing the importance of embracing disability culture and community support. In her book, she chronicles her life journey, highlighting the themes of hope, acceptance, and the importance of self-worth despite challenges. Jennifer's experience with mentorship has profoundly influenced her outlook on disability, advocating for a shift in societal perceptions towards inclusivity. She encourages individuals with disabilities to recognize their inherent worth and capabilities, asserting that their disabilities do not define them.

If you've been dealing with slurred speech, balance problems, hand tremors, or other strange neurological symptoms and have been told it's just stress or anxiety, this episode is for you. We're diving into gluten ataxia, a rare autoimmune condition triggered by gluten that affects the brain, not the gut.You'll learnWhat gluten ataxia is and how it's different from typical celiac diseaseThe key symptoms (that often get brushed off or misdiagnosed)What to ask your doctor for (including specific tests like TG6 antibodies)What to expect in terms of recoveryHow to support your healing if you've been affectedThis episode was inspired by a listener named Kelly, who has been dealing with this for years without clear answers.Ready for more support? Check out Ultimate Celiac System here  https://belindawhelantraining.com/ultimate-celiac-system and learn how I can help you regain your energy, confidence and find food freedom.

In this Mission Matters episode, ⁠Adam Torres⁠ interviews ⁠Andrew Rosen⁠, CEO of the National Ataxia Foundation, as part of the Milken Global Conference Series. Rosen shares the challenges of diagnosing and treating ataxia a rare, inherited neurodegenerative disorder and how his foundation is funding critical research, supporting patients and families, and pushing for greater awareness and federal support. Follow Adam on Instagram at ⁠https://www.instagram.com/askadamtorres/⁠ for up to date information on book releases and tour schedule. Apply to be a guest on our podcast: ⁠https://missionmatters.lpages.co/podcastguest/⁠ Visit our website: ⁠https://missionmatters.com/⁠ More FREE content from Mission Matters here: ⁠https://linktr.ee/missionmattersmedia⁠ Learn more about your ad choices. Visit podcastchoices.com/adchoices

In this Mission Matters episode, Adam Torres interviews Andrew Rosen, CEO of the National Ataxia Foundation, as part of the Milken Global Conference Series. Rosen shares the challenges of diagnosing and treating ataxia a rare, inherited neurodegenerative disorder and how his foundation is funding critical research, supporting patients and families, and pushing for greater awareness and federal support. Follow Adam on Instagram at https://www.instagram.com/askadamtorres/ for up to date information on book releases and tour schedule. Apply to be a guest on our podcast: https://missionmatters.lpages.co/podcastguest/ Visit our website: https://missionmatters.com/ More FREE content from Mission Matters here: https://linktr.ee/missionmattersmedia Learn more about your ad choices. Visit podcastchoices.com/adchoices

What does it take to secure, plan and execute a main stage presentation at Cannes? Christopher Charles, executive creative director at 21Grams, and Fiona Cauley, a comedian with Friedreich's Ataxia, who recently opened for Nikki Glaser, are fresh from their presentation on the main stage at Cannes. Hear the behind-the-scenes story of their presentation, how it went and what they believe the impact will be for healthcare marketing.  AI Deciphered is back—live in New York City this November 13th.Join leaders from brands, agencies, and platforms for a future-focused conversation on how AI is transforming media, marketing, and the retail experience. Ready to future-proof your strategy? Secure your spot now at aidecipheredsummit.com. Use code POD at check out for $100 your ticket! campaignlive.com What we know about advertising, you should know about advertising. Start your 1-month FREE trial to Campaign US.

What does it take to secure, plan and execute a main stage presentation at Cannes? Christopher Charles, executive creative director at 21Grams, and Fiona Cauley, a comedian with Friedreich's Ataxia, who recently opened for Nikki Glaser, are fresh from their presentation on the main stage at Cannes. Hear the behind-the-scenes story of their presentation, how it went and what they believe the impact will be for healthcare marketing.Step into the future of health media at the MM+M Media Summit on October 30th, 2025 live in NYC! Join top voices in pharma marketing for a full day of forward-thinking discussions on AI, streaming, retail media, and more. Explore the latest in omnichannel strategy, personalization, media trust, and data privacy—all under one roof. Don't wait—use promo code PODCAST for $100 off your individual ticket. Click here to register!    AI Deciphered is back—live in New York City this November 13th.Join leaders from brands, agencies, and platforms for a future-focused conversation on how AI is transforming media, marketing, and the retail experience. Ready to future-proof your strategy? Secure your spot now at aidecipheredsummit.com. Use code POD at check out for $100 your ticket!    Check us out at: mmm-online.com   Follow us:  YouTube: @MMM-online TikTok: @MMMnews Instagram: @MMMnewsonline Twitter/X: @MMMnews LinkedIn: MM+M   To read more of the most timely, balanced and original reporting in medical marketing, subscribe here.

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/

Treating individuals with ataxia is challenging for many reasons. Having some key insights from the literature is just what you need! That's why on this week's episode Erin Gallardo, PT, DPT, NCS interviewed Dr. Jeannie Stephenson, PT, PhD, MS, MCS and Dr. Staci Shearin, PT, PhD, NCS, GCS to discuss their research and clinical experiences in treating ataxia. The speakers recently presented a webinar inside NeuroSpark for members and the takeaways were so good we had to bring them on the podcast to share more! In the episode you'll learn their insights on various types of ataxia, effective therapeutic approaches, and the importance of intensive task-specific training. They'll debunk common misconceptions such as the most effective approach to training and whether or not weighting is a good idea. The answers may surprise you. They also provide practical advice for clinicians on using assistive devices, outcome measures, and external cues to enhance patient treatment and support. This episode is an informative resource for anyone interested in improving mobility and the quality of life for individuals with ataxia. Want to dive deeper into treating ataxia and get continuing education credits? Good news! We've recently updated the Ataxia Masterclass for PTs and OTs with 3 all NEW modules for a total of 6.25 contact hours, including the webinar mentioned in the episode by Dr. Stephenson and Dr. Shearin! Get it here today.

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?

Art's journey with Ataxia began in 2022 when he was diagnosed and faced a grim prognosis of being confined to a wheelchair with a progressive decline in his condition. Despite these challenges, Art has defied expectations through his tireless determination, innovative treatments, and lifestyle changes. By adopting a carnivore diet, undergoing stem cell therapy in Mexico, and maintaining a rigorous strength training regimen, he transitioned from relying on a wheelchair to walking independently. Art's remarkable progress has not only transformed his life but has also inspired others with Ataxia and similar neurological disorders to pursue alternative paths toward recovery. As an advocate for awareness and change, Art has encountered resistance from organizations like the National Ataxia Foundation (NAF), which he believes are influenced by pharmaceutical interests. While the NAF acknowledges his determination and the benefits of his approach, they have discouraged him from sharing his experiences with stem cell therapy in their groups. Art remains steadfast in his mission to promote holistic and transformative strategies for managing neurological disabilities. He emphasizes the critical role of motivation, proper diet, and unconventional treatments in overcoming these challenges, urging the medical community to support and explore what works instead of adhering solely to traditional frameworks. Instagram: https://www.instagram.com/living_with_ataxia Twitter: https://x.com/LivingWitAtaxia YouTube: https://www.youtube.com/@Living_With_Ataxia Other: https://www.linkedin.com/in/livingwithataxia/ Website: https://livingwithataxia.vids.io/ Timestamps: 00:00 Trailer 01:23 Introduction 05:26 Undiagnosed stroke and ataxia 10:19 Stroke recovery journey highlights 12:43 Quick adaptation pre-diet progress 17:28 Challenging conventional neurological treatment 18:48 Challenging sedentary mindsets in medicine 22:07 Red meat eases leg cramps 27:49 Carnivore diet and cognitive boost 29:24 Speech restrictions and free speech concerns 34:15 Carnivore diet eases joint pain 37:06 Exercise for everyone's well-being 39:13 Unexpected diagnosis journey 44:13 Diet adherence difficulty comparison 47:15 Stroke recovery and rehabilitation insight 49:55 Reluctant diet advice shift 52:00 Where to find Art Join Revero now to regain your health: https://revero.com/YT Revero.com is an online medical clinic for treating chronic diseases with this root-cause approach of nutrition therapy. You can get access to medical providers, personalized nutrition therapy, biomarker tracking, lab testing, ongoing clinical care, and daily coaching. You will also learn everything you need with educational videos, hundreds of recipes, and articles to make this easy for you. Join the Revero team (medical providers, etc): https://revero.com/jobs ‪#Revero #ReveroHealth #shawnbaker  #Carnivorediet #MeatHeals #AnimalBased #ZeroCarb #DietCoach  #FatAdapted #Carnivore #sugarfree Disclaimer: The content on this channel is not medical advice. Please consult your healthcare provider.

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

As rehab professionals, we often face unique challenges when working with patients who have ataxia. In today's episode Claire McLean, PT, DPT, NCS, J.J. Mowder-Tinney, PT, PhD, NCS and Erin Gallardo, PT, DPT, NCS have a group discussion about working with people with it. One of the primary challenges is that often there can be slow progress. This can be exacerbated by the diverse underlying causes and presentations of ataxia, making it difficult to develop standardized treatment approaches. In today's show we'll discuss a couple of main points the research emphasizes to incorporate in your treatments for people with ataxia. We'll discuss the question of how to divide up your time in the session, how to uncover what their true capabilities are, and how to balance care partner training into sessions.  Some treatment examples include incorporating sensory input, start-stop techniques, resistance training, whole task versus part task training, ocular motor training and visual tracking exercises to address the challenges patients face with balance and stability. Join us for a free webinar on working with patients with Ataxia on Jan 28, 2025! Register here: Navigating Ataxia Treatment: Practical Tools for PTs and OTs

"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!    

Dr. Vikram Karnak discusses the novel hereditary ataxia SCA27b, its genetic basis, symptoms, and potential treatments, emphasizing the need for testing in unexplained adult-onset ataxia.

On this episode of the Real Life Pharmacology podcast, I continue my education on the top 200 drugs. Raloxifene, prednisone, phenytoin, fish oil, and ezetimibe are covered in this podcast episode. Prednisone is a corticosteroid that may cause hyperglycemia, insomnia, GI upset, osteoporosis, HPA suppression, and hypertension as primary adverse effects. Raloxifene is classified as a SERM and can be used for osteoporosis and breast cancer. DVT and hot flashes are significant adverse effect concerns. Fish oil (Lovaza) is used to reduce triglycerides. Elevated triglycerides can increase the risk of pancreatitis. Ezetimibe inhibits the absorption of cholesterol through the gut. It lowers LDL but not to the extent of statins. Phenytoin is a narrow therapeutic index medication (NTI) that is used as an anticonvulsant. Ataxia, confusion, GI upset, and vertical nystagmus are potential signs of toxicity.