Podcasts about spinal muscular atrophy sma

MamaTurbo shares the moving story of her son TheTrueTurbo, a passionate Pokémon fan, Shiny Hunter, and Twitch streamer who lived with Spinal Muscular Atrophy (SMA). From childhood memories to his transition into streaming during the pandemic, she reflects on TheTrueTurbo's resilience, his love for gaming, and the incredible community that rallied around him. The conversation also explores the emotional weight of his passing and the legacy he left behind, not only as a creator, but as a source of inspiration.Listen now to hear how one Pokémon Trainer's story continues to shine through the people who loved him most.SourcesOpening Song: "Forget You" by Alex_MakeMusic from PixabaySend us a textSupport the show Visit our website: www.asthepokeballturns.com Join Our Discord Community!https://discord.gg/AqAbD7FbRt Your next Pokemon adventure begins here!

In this episode of Robot Unicorn, Jess and Scott sit down with their close friend and colleague, Brooklyn Marx, a disabled psychotherapist, to explore how to talk about disability honestly and openly with children. Brooklyn shares her personal journey with Spinal Muscular Atrophy (SMA), the challenges of growing up with a disability, and the evolution of her personal identity.Whether you're a disabled parent, a parent of a disabled child, or simply someone interested in nurturing inclusivity, this episode provides real-world advice and heartfelt insights that encourage us all to view disability as a natural, integral part of human diversity.Get 10% OFF parenting courses and kids' printable activities at Nurtured First using the code ROBOTUNICORN.We'd love to hear from you! Have questions you want us to answer on Robot Unicorn? Send us an email: podcast@robotunicorn.net. Credits:Editing by The Pod Cabin Artwork by Wallflower Studio Production by Nurtured First  Learn more about The Anger Course here!

Motherhood & Living with SMA: Everything You Need to Know  Description:  Becoming a parent is a life-changing journey, and when you're living with a long-term condition like Spinal Muscular Atrophy (SMA), it comes with its own unique set of challenges and joys. In this video, we dive into Motherhood—the experience of parenting while managing a disability.  Join us as we discuss:  ✅ Preparing for parenthood with a long-term condition  ✅ Adaptive parenting techniques & equipment  ✅ Navigating healthcare & support systems  ✅ Overcoming challenges & embracing the joys of parenting  Whether you have SMA, another disability, or just want to learn more about inclusive parenting, this video is packed with insights and real-life experiences to support you on your journey.  

This podcast will give you an approach to Spinal Muscular Atrophy (SMA). By the end of this episode, listeners will be able to 1) define and understand the pathophysiology of SMA, 2) identify the clinical presentations of the different subtypes of SMA, 3) describe the differential diagnosis of SMA, 4) describe the screening guidelines and diagnostic evaluations of SMA, and 5) describe the management of SMA. Today's episode was created Johanie Victoria Piché, a 4th year medical student at McGill University, in collaboration with Dr. Maryam Oskoui, a pediatric neurologist at Montreal Children's Hospital. There are no conflicts of interest to disclose by the authors.  

In this uplifting episode of From Darkness to Life, Ryan welcomes Jessica Janzen, a dynamic keynote speaker, mindset coach, and philanthropist. Jessica shares her incredible journey of transforming profound personal loss into a mission of spreading joy and resilience. After losing her son, Lewiston, to Spinal Muscular Atrophy (SMA), Jessica co-founded The Love for Lewiston Foundation, raising over $2.4 million to support families affected by SMA and advocate for newborn screening.

How would you live your life if you knew you were going to die by the time you were 30? Would that affect the choices you make, the relationships you have, the way you look at every day? Spinal Muscular Atrophy (SMA) is a degenerative neuromuscular condition that is the number one genetic killer of babies. It is extremely rare and the probability of being born with it is about 0.0001. On today's program, we're going to learn all about this disease that until recently was not even being tested for. Joining us is a 25-year-old entrepreneur and social media influencer, Victor Guerra. Victor lives with type two SMA and has made it his life's mission to be a successful entrepreneur and SMA advocate. We will be talking with him about what it's like to live knowing you won't live a “normal life” and that you probably will not live past 30 years old. Want to learn more about SMA? You can do so here This program is hosted and produced by Dominick Trevethan with editing assistance from Denny Daughters. Links to Victor's work: SMA Victor – Youtube Channel Victor's Instagram account Victor's website Victor Guerra The post SMA: A Deep Dive – Pushing Limits – October 4, 2024 appeared first on KPFA.

In honor of National Grief Awareness Day this coming Friday, we welcome Jessica Janzen, a shining embodiment of strength and resilience who turned a devastating personal loss into a powerful force for good. In 2016, Jessica's life was forever altered when her infant son, Lewiston, was diagnosed with Spinal Muscular Atrophy (SMA), a rare and incurable disease…In this poignant episode, Jessica opens up about her emotional journey from the initial shock of Lewiston's diagnosis to finding the strength to “Bring the Joy” into those final 6 months of his life. She dives deep about her experience navigating the challenging grieving process and how her healing journey evolved into a mission of positivity and awareness.As a motivational speaker, author, and philanthropist, Jessica is dedicated to raising awareness for SMA and advocating for a cure. Her story offers invaluable insights for those struggling to find hope and positivity in their own grief, reminding and reassuring listeners that however they're handling their grief is acceptable…Don't miss this inspiring conversation about turning pain into purpose, embracing healing, and making a difference through adversity.Advertising Inquiries: https://redcircle.com/brands

Shailynn Taylor shares her experiences of living with spinal muscular atrophy and turning it into her strength. She has built a career around helping others and advocating for more realistic portrayals of disability in media. Shailynn focuses on promoting disability representation and believes in the power of positive perspectives, gratitude, and breaking free from limiting expectations. Shailynn is a beacon of light who has defied all odds and is changing the world! A Little More About Shailynn Shailynn Taylor is a disability advocate and motivational speaker who calls Moose Jaw home. Living with the rare disease of Spinal Muscular Atrophy (SMA) has shaped her perspective to value connection and authenticity above all. How To Connect With Shailynn Connect with her on Instagram HERE Connect With Live Free Wellness linktr.ee/lvfree

Join host Dan Aberhart on the Growing the Future podcast as he welcomes Jessica Janzen, a motivational speaker, mindset coach, author, and philanthropist. Jessica shares her incredible journey of overcoming life challenges, including the heartbreaking loss of her son to Spinal Muscular Atrophy (SMA). Discover how her faith, resilience, and choice to bring joy have transformed her life and the lives of many others through the Love for Lewiston Foundation. This episode dives deep into the importance of self-worth, the power of choice, and bringing joy, even in the hardest of times. Don't miss this emotional and inspiring conversation that is sure to leave a lasting impact.

n this episode, I chat with Tyler Lima-Roope, a comedy content creator from California. Tyler, known for his humorous stories on TikTok and Instagram, shares his experiences living with Spinal Muscular Atrophy (SMA). Join us to hear about his journey, the challenges he faces, and how he uses a mix of humor and authenticity to connect with his audience. --- Send in a voice message: https://podcasters.spotify.com/pod/show/lmbdl/message

In a world where societal norms often dictate limitations based on physical abilities, Ben Lou, 20, an award-winning MIT physics and math wiz, and his mother, Jenny Huang, are beacons of hope in disability advocacy. Living with Spinal Muscular Atrophy (SMA), Ben has defied expectations and achieved remarkable success, including acceptance to MIT. With Jenny's tireless help and support, Ben scored a perfect score on his math SAT, and he now maintains a 5.0 GPA at MIT, where he is studying Math, Physics, and Philosophy and hopes to earn his PhD in Physics.   In this episode, Jenny reflects on their early years, the challenges of raising a child with a disability, and the decision to support Ben's educational aspirations at MIT. She shares the importance of never giving up, seeking help, and the continuous journey of personal growth. Ben shares the importance of setting high standards, his motivation to excel, and the impact of strong family support. Together, they discuss the role of comprehensive care and the critical need for advocacy to promote a more inclusive society.   In this episode, you will hear: How individuals with disabilities can achieve extraordinary goals. Why strong family and caregiver networks are crucial for the success of individuals with disabilities. How comprehensive care plans, including physical, emotional, and educational support, are essential for thriving with disabilities. Ways setting high standards and pursuing goals can lead to significant achievements despite physical limitations. Why planning for future independence and support ensures long-term success and well-being. Resources from this Episode: Instagram: @team.ben_ Watch Ben Lou's speech: here   Engage with us: Join our community: Circle of Care Visit: https://annettehines.com/ Read Butterflies and Second Chances LinkedIn: @annette-hines-snc  Instagram: @parentingimpossible Facebook: @SpecialNeedsCompanies Twitter: @SpecialNeedsCo   Follow and Review: We'd love for you to follow us if you haven't yet. Click that purple '+' in the top right corner of your Apple Podcasts app. We'd love it even more if you could drop a review or 5-star rating over on Apple Podcasts. Simply select “Ratings and Reviews” and “Write a Review” then a quick line with your favorite part of the episode. It only takes a second and it helps spread the word about the podcast.  

Shane Burcaw grew up in Bethlehem, Pennsylvania, and graduated from Moravian College with an English degree. His bestselling memoir was shortlisted for the ALA Excellence in Nonfiction Award. He also writes as a freelancer for The Morning Call. His blog, Laughing At My Nightmare, talks about the humor of living with Spinal Muscular Atrophy (SMA) and has over half a million followers. Along with his wife, Hannah, the duo started their popular YouTube channel, Squirmy and Grubs, in 2018.  Shane sat down with host Jay Ruderman to talk about his experience growing up as a person with a disability, his advocacy work through his YouTube channel and non-profit, and how he challenges people's assumptions about what someone living with a disability can do.See omnystudio.com/listener for privacy information.

In this episode, join Norah Al-Azzam, an expert in neuroscience and RNA, as we delve into the intricate cellular biology of rare neurodegenerative and neurodevelopmental disorders. Explore the complexities of conditions like ALS, Huntington's disease, Sanfilippo Syndrome (MPS III), and Spinal Muscular Atrophy (SMA), gaining insights into the pivotal roles played by RNA, proteins, and sugars. Our conversation spans a spectrum of diagnostic, preventative, and therapeutic tools, encompassing genetics, AI, and lessons borrowed from oncology. We navigate through topics such as aging, autophagy, fasting, biofeedback, gene sequencing, environmental risk factors, pharmaceuticals, supplements, nutrition, and even touch on the impact of Ramadan on health and aging.Strap on your lab goggles and grab a pen. It's time to dive deep into the cell, so that we can better dissect, detect, and defend against neurodegeneration.**CONNECT WITH NORAH AL-AZZAM**   LinkedIn: /norahalazzamRESOURCESCOMPANIES- Abbott- Eli Lilly - Illumina- Inhibrix- Nanomood- Neurocrine BiosciencesPEOPLE- Gene Yeo - Joseph Wang- Kelly Doran  - Michael Perry- Philip Gordts- Rob KnightSCIENCE VOCAB- antisense oligonucleotide (ASO)- Apo-E- beta-amyloid- endocytosis- glycans- lysosome- Lyscosomal storage disorders- phosphorylation - RNA-binding protein- sulfamidase- survival motor neuron (SMN)- Tau protein- TDP43- Trinucleotide repeat-disorderSTUDIES & NEWS- Cure SMA- 'Impaired mitophagy in Sanfilippo a mice causes hypertriglyceridemia and brown adipose tissue activation' (Aug 2022)- 'The world's first CRISPR therapy is approved: who will receive it?' (Nov 2023)- 'Unprecedented blood biomarker enables ALS drug approval' (June 2023)- 'Wearable device and smartphone data quantify ALS progression and may provide novel outcome measures' (Mar 2023)*Check out Nature Biotech for all the latest and more!

At 18 months old, Shailynn Taylor was diagnosed with Spinal Muscular Atrophy (SMA), a disease that deteriorates physical strength by affecting the motor nerve cells in the spinal cord. Her parents were told by doctors she wouldn't live past 12.  At 10 years old, Shailynn lost the ability to stand and has been living life in a power wheelchair ever since. Defying the odds and expiry date she was given, Shailynn is thriving and feeling the best she's ever felt at the age of 28, passionately pursuing making a difference in others with her advocacy for disabilities.  In this episode, Shailynn shares what it's like to live a unique experience on this planet from a wheelchair and more importantly, how those of us who are able-bodied, can shift our lens, our words and our actions to be more inclusive of those living with disabilities. Follow Shailynn Taylor on Instagram: https://www.instagram.com/shailynntaylor/ Learn more about SMA and support families https://www.loveforlewiston.com/ Laura Lawrence on Instagram: https://www.instagram.com/lauralawrence.author Laura Lawrence on Facebook: https://www.facebook.com/hearttalkwithlaura/

In today's episode, we dive into the base editing approaches in Spinal Muscular Atrophy (SMA), a degenerative motor neuron disease caused by the loss of motor neurons in the spinal cord. Our guest is Dr. Mandana Arbab is the Lodish Family Assistant Professor of Neurology at Harvard Medical School and faculty member of the Rosamund Stone Zender Translational Neuroscience Center at Boston Children's Hospital. She received her Ph. D. in Regenerative Medicine at the Hubercht Institute in the Netherlands and completed her postdoctoral fellowship at the Broad Institute with Professor David Liu.  Dr. Arbab sheds light on the genetics of SMA, emphasizing the critical role of SMN genes and the potential of base editing to bring about transformative treatments. SMA stands out as the most common genetic cause of infant death worldwide, affecting patients within the first few months of life. The podcast delves into the existing therapeutics for SMA, such as antisense oligonucleotides and AAV gene therapy, examining their limitations and the quest for more precise and long-term solutions. The concept of base editing takes center stage, offering a promising approach to correct the genetic mutations associated with SMA. Join us as we discuss the challenges and opportunities of bringing base editing into clinical trials. Learn about the intricacies of delivery mechanisms, biodistribution, and the potential for combining base editing with existing therapies. The conversation extends to considerations for clinical trials, including addressing off-target effects and the complexities of patient eligibility. The podcast concludes with a glimpse into the future of CRISPR genome editing, and the exciting potential for transformative treatments in the realm of rare diseases. Tune in to “Gene Therapy Insights” and embark on a journey through the cutting-edge world of gene therapy, where science meets hope, and the future of medicine unfolds.

Last month, I attended the Society for Neuroscience conference in Washington, DC and interviewed neuroscientists from across the world about their research. This is the first in a multi-part series called "SfN Shorts" that features these brief (5-10 minute) discussions. I hope that these interviews showcase just how broad a field neuroscience is, and just how many different kinds of research are contained within this field. Interview 1: Nicholas Cottam, a graduate student at Delaware State University, on how we study the genetic disease called Spinal Muscular Atrophy (SMA). Interview 2: Dr. Johnson, a professor at Wits University in South Africa, on how alcohol and diabetes jointly affect the brain. Interview 3: Allison Reed, an undergraduate student at High Point University, on whether THC can help protect the brain against injuries like strokes. Interview 4: Tara Barnes and Anna Estremsky, undergraduates at St. Mary's College of Maryland, on what we can learn from woodpeckers about chronic head injuries. Interview 5: Dr. Yuryanni Rodriguez, a postdoctoral fellow at the University of Miami, on the different ways our taste buds can sense sweet taste. Follow along with the posters here: https://inplainenglishpod.org/2023/12/05/season-3-episode-3-society-for-neuroscience-sfn-shorts-part-1/ In Plain English now has a Discord server! Join ⁠⁠here ⁠⁠to chat with other listeners, past experts, and guests about science, suggest new episode topics, and more! Remember to follow In Plain English on ⁠⁠Facebook ⁠⁠, ⁠⁠Twitter⁠⁠, and ⁠⁠Instagram ⁠⁠to keep up with the latest announcements! If you are able, please consider ⁠⁠becoming a Patron⁠⁠ to help support In Plain English! And check out our ⁠⁠Where to Listen⁠⁠ page to subscribe to our podcast on your favorite platform! Intro/Outro music credit: Sam Brunwasser (⁠⁠https://soundcloud.com/visualsnowbeats⁠⁠)

On the latest episode of the PokerNews Podcast, Chad Holloway, Connor Richards, and Matt Hansen talk about what they did for Halloween, DJ Khaled's Celebrity Challenge on Global Poker, GGPoker's new Poker After Dark ‘Game of Gold' show, and the difference between WPT at Sea vs. WPT Voyage. They also remember actor Matthew Perry, who passed away unexpectedly, and the mark he left on the TV show Celebrity Poker Showdown; recap Blake Bohn's record 5th MSPT title win; take a look at Yiannis Liperis winning 888poker LIVE Coventry Main Event; and highlight winners from both the RunGood Poker Series (RGPS) and Triton Poker. Chad then sits down for a chat with K.L. Cleeton, the co-founder of RangeTrainerPro. He talks about living with Spinal Muscular Atrophy (SMA), how poker is a great equalizer for his competitive spirit, and new developments at RangeTrainerPro and how his unique perspective has shaped the innovative tool. Time Stamps *Time | Topic* 00:23 | Welcome to the show 00:35 | What did you do for Halloween 02:50 | Sponsor: Global Poker 03:49 | GGPoker's Poker After Dark ‘Game of Gold' 07:10 | Remembering Matthew Perry on Celebrity Poker Showdown 12:40 | What's the difference between WPT at Sea vs. WPT Voyage 14:38 | Sponsor: WPT Global 17:20 | Guest K.L. Cleeton joins the show 38:08 | Blake Bohn captures record 5th MSPT title 40:00 | RGPS crowns two winners in a single weekend 41:00 | Yiannis Liperis wins 888poker LIVE Coventry Main Event 41:58 | Dan Smith & Christoph Vogelsang capture Triton Poker titles 44:40 | NAPT & Formula 1 are finally here!

Welcome to a deeply moving and enlightening episode of our podcast, where we shine a spotlight on "The Importance of Spinal Muscular Atrophy Advocacy" and the transformative power of social media in advocacy efforts. In this remarkable conversation, we are joined by four extraordinary individuals - Portia, Eden, Hamany, and Maxwell - who are helping to drive change in the world of Spinal Muscular Atrophy (SMA) advocacy.Our guests share their heartfelt stories and reveal why they are so passionately dedicated to this vital advocacy cause. Through their voices, we explore the profound impact SMA has on the lives of individuals and their families, igniting the flames of their advocacy journey.But this episode is not just about the challenges they face; it's a celebration of their resilience and their unwavering commitment to making a difference. We dive into the diverse mediums they utilize, from heartfelt messages to the simple act of sharing posts, and how these seemingly small actions have a ripple effect that reaches far and wide.Join us as we uncover the inspiring goals they're striving to achieve within the SMA community and beyond. It's a testament to the fact that you don't need to be a loud and proud voice on the front lines to contribute to a cause. Every message, every share, every act of support matters.This episode is a call to action, an invitation to be part of something bigger than ourselves, and a reminder that even the quietest voices can make the most significant impact. Tune in now and be inspired by these remarkable advocates who are changing lives through their dedication and the power of social media.#Advocacy #QuietHeroes #InspiringStories #livingWithSMATHIS PODCAST IS NOT JUST FOR PEOPLE WITH SMA This content is not solely for the SMA Community. We hope this discussion will be helpful to everyone. ❤️ You can contact SMA UK on the following social media platforms ⬇️⬇️ ▶ | INSTAGRAM: https://www.instagram.com/sma_uk ▶ | TWITTER: https://twitter.com/SMA_UK_ ▶ | FACEBOOK: https://www.facebook.com/SpinalMuscul...  If you would like to participate in any of our podcasts please email luis.castro@smauk.org.uk Living With SMA disclaimer: The views expressed in this episode belong to the Podcast Participants and not the charity SMA UK, its partners, or its employees. All opinions expressed by the Podcast Participants are solely their current opinions and do not reflect the opinions of SMA UK. The Podcast Participants' opinions are based upon information they consider reliable, but neither SMA UK, nor the companies with which such participants are affiliated, warrant its completeness or accuracy, and it should not be relied upon as such.

In this episode we talk to Maxwell Mcknight. Maxwell shares his experience of Spinal Muscular Atrophy (SMA) a genetic and progressive muscle weakness condition. Maxwell shares his experiences of the condition and talks about finding care, going to university, seeking a placement year and the new medical available to some people with SMA. Disability is unique to everyone and we share our own personal experiences but don't speak on behalf of the whole disability community. I hope you enjoy the episode and let us know what you think!

Spinal Muscular Atrophy (SMA) is a devastating genetic disease that causes muscle weakness and atrophy (shrinking of muscles) in children. There is currently no cure for this disease; however, base editing, a type of gene therapy, provides potential. Dr. Rasthmi Kothary is the Deputy Scientific Director and Senior Scientist at the Ottawa Hospital Research Institute. His lab focuses on understanding the mechanisms that underlie muscle and nervous system integrity. In this episode, Dr. Kothary gives us a greater insight on what SMA is, how it is currently being treated, and his research so far on a new base editing system to potentially cure this disease. Episode produced & hosted by: Nicole Chu Learn more: https://www.ohri.ca/profile/rkothary

In this first installment of our series on rare neurologic diseases, host Jeff Schmidt talks with Kyle Reedy about Spinal Muscular Atrophy (SMA). Kyle discusses the etiology and clinical presentation of this disease, as well as best practices for treating patients living with this rare neuromuscular disease, in light of medical advances that have improved patient prognosis. From using SMA-specific outcome measures to advocate for patients to insurance companies, to designing comprehensive and tailored interventions to optimize function and mobility long term, Kyle delves into the research and interdisciplinary best practices for management of patients with SMA.The Degenerative Diseases Special Interest Group is part of the Academy ofNeurologic Physical Therapy – www.neuroPT.org

Good morning from Pharma and Biotech daily: the podcast that gives you only what's important to hear in Pharma and Biotech world.##COVID-19 Vaccine UpdatesThe race for a COVID-19 vaccine continues as pharmaceutical companies around the world work tirelessly to develop an effective and safe vaccine. Several candidates have entered late-stage clinical trials, including those from Pfizer, Moderna, and AstraZeneca. These trials aim to test the efficacy and safety of the vaccines in a large population. Once a vaccine is approved, distribution plans will be put into action to ensure that it reaches those in need as quickly as possible.##New Treatment for Alzheimer's DiseaseIn exciting news for the field of neurology, a new treatment for Alzheimer's disease has shown promising results in clinical trials. The drug, developed by Biotech company NeuroPharma, targets the underlying cause of the disease and has demonstrated a significant improvement in cognitive function in patients. If approved by regulatory authorities, this could be a major breakthrough in the treatment of Alzheimer's disease, which currently has limited options.##FDA Approves Gene Therapy for Rare DiseaseThe FDA has granted approval for a gene therapy to treat a rare genetic disorder called Spinal Muscular Atrophy (SMA). Developed by Pharma company GeneCure, this therapy aims to address the root cause of the disease by replacing the faulty gene responsible for SMA. Clinical trials have shown remarkable results, with patients experiencing improved muscle function and quality of life. This approval marks a significant advancement in the field of gene therapy and brings hope to those affected by rare genetic disorders.##Advancements in Cancer ImmunotherapyCancer immunotherapy continues to show promise as a groundbreaking approach in cancer treatment. Pharmaceutical companies are investing heavily in research and development to harness the power of the immune system to fight cancer cells. Recent studies have shown remarkable success rates in certain types of cancers, such as melanoma and lung cancer. The development of targeted therapies and combination treatments is expected to further improve outcomes for cancer patients in the near future.##Breakthrough in Gene Editing TechnologyScientists have made a major breakthrough in gene editing technology with the development of a new tool called CRISPR-Cas9. This revolutionary technique allows for precise editing of genes, offering potential treatments for a wide range of genetic disorders. The ability to modify genes opens up possibilities for personalized medicine and may lead to the development of cures for previously untreatable diseases. The field of gene editing is rapidly evolving, and further advancements are expected in the coming years.##ConclusionThese are just a few of the exciting developments happening in the world of Pharma and Biotech. From COVID-19 vaccines to breakthrough treatments for neurological disorders and rare genetic diseases, the industry is making significant strides in improving healthcare outcomes for patients worldwide. Stay tuned for more updates on these and other important news in future episodes of Pharma and Biotech daily.

Physiotherapy is hard. It is even harder for children who get bored and tire quickly from the repetitive motions that doctors prescribe for them. Raft Digital Therapeutics (Raft) created an interactive video game to help children with a rare degenerative neuromuscular disease – Spinal Muscular Atrophy (SMA) – to maintain their physical abilities, improve outcomes, and promote a higher quality of life. Their game has found success with children, parents, and clinicians. Healthcare IT Today had the opportunity to sit down with Dr. Geoff Frost, CEO of Raft and practicing physiatrist, to find out about their game, their recent successes, and their plans for the next year. Find out more about Raft Digital Therapeutics at https://raftdt.com/ Find more great health IT content at https://www.healthcareittoday.com/

The U.S. faces a mental health crisis, with more than 1 in 20 Americans having a serious mental illness. Join us for a conversation about the urgent need to address this challenge including the importance of access to care, eliminating disparities, innovative treatments, and more. Moderator Gretchen C. Wartman Vice President for Policy and Program Director, Institute for Equity in Health Policy and Practice National Minority Quality Forum Gretchen Clark Wartman is Vice President for Policy and Program of the National Minority Quality Forum (NMQF), and Director of the NMQF Institute for Equity in Health Policy and Practice. Ms. Wartman also directs the NMQF National Alliance for Brain Health and Awareness. Prior to her tenure with NMQF, Ms. Wartman held positions with the Missouri Department of Health and Senior Services, including serving as the Title V/Maternal and Child Health Director, and Director of the Division of Nutritional Health and Services. Panelists Rimal Bera, MD Chairman Mental Health Working Group Alliance for Patient Access Rimal Bera, MD is a Clinical Professor of Psychiatry at the University of California, Irvine Department of Psychiatry. Dr. Bera earned a Bachelor of Science Degree in Biology from the University of California, Irvine in 1983 and a medical degree from the University of California, Irvine in 1987. He completed his Psychiatry Residency at the University of California Irvine since 1991. He has been a Full Time Faculty at the University of California, Irvine since 1991. Dr. Bera is a distinguished life fellow of the American Psychiatric Association. He serves as a Medical Director for Universal Care Behavioral Health for California and as Medical Director at the John Henry Foundation in Santa Ana, a high-level center for the treatment of schizophrenia. Pamela D. Price, RN Deputy Director The Balm In Gilead Pamela Price is a Texas native with a passion for helping women and girls achieve everything they were created to be. For more than 20 years, she has worked with national and government agencies to develop and implement multifaceted programs to meet the societal and cultural needs of women and underserved communities. As an exemplary leader with an innovative mindset, Pamela provides direction & support to multi-sector organizations in the areas of project design, implementation and evaluation, to strengthen their overall efficiency & capacity to deliver impactful & sustainable programs and services. She is a representative member of national committees, coalitions, and advisory boards, and excels in working with both public & private sector institutions to provide leadership and guidance on health equity, cultural proficiency, and community engagement. Mrs. Price is a national speaker & educator, routinely sharing information & offering insightful viewpoints on issues ranging from mental health to HIV/AIDS to the psychosocial challenges of women leaders and the importance of building equitable resilient communities. She currently serves as the Deputy Director for The Balm In Gilead managing the various health initiatives of the organization. Under her leadership, the organization provides support to faith-based and public health institutions in areas of program design, implementation, and evaluation, which strengthen their capacity to deliver programs and services that contribute to the elimination of health disparities. In addition to her role as Deputy Director, she also serves as the Director for The National Brain Health Center for African-Americans. Josue Guinart-Carreno, MBA Director of Global Neuropsychiatry Biogen Josue Guinart-Carreno is a Director of Global Neuropsychiatry at Biogen and is a seasoned business leader with a passion for health equity and inclusion. He's been with Biogen for over 6 years, and has worked across various therapeutic areas, including Spinal Muscular Atrophy (SMA), Neuromuscular Disorders (NMD), and Multiple Sclerosis (MS).

EACD 2023 Supplemental.Professor Rocío Palomo-CarriónUniversity of Castilla-La ManchaInterview re: Mini-symposium: Powered mobility: Facilitating participation in children with Spinal Muscular Atrophy (SMA) type I. Ready for the race?

Our guest this week is Ben Mattlin of Los Angeles, CA a disability advocate, an author, educator and writer. Ben was born in New York City in 1962 with Spinal Muscular Atrophy (SMA), a congenital muscle weakness. He attended the Walden School, Rudolf Steiner High School, and Harvard University, graduating cum laude.Ben and his wife, Mary, have been married for 34 years and are the proud parents of two adult daughters. Ben is a freelance writer and frequent contributor to Financial Advisor magazine. His writings have appeared in the New York Times, LA Times, and The Washington Post, to name a few.He is also the author of: three books Miracle Boy Grows Up (2012), In Sickness & In Health (2018), and Disability Pride: Dispatches From A post-ADA World. (2022) Ben reflects on being mainstreamed educationally, his objections to being labeled and misrepresented by the National MDA as a youth and how he has gone on to live a full and rewarding life as a husband, father and being gainfully employed, despite being confined to a wheelchair. It's a fascinating and uplifting interview, which we'll hear on this week's episode of the Special Fathers Network Dad To Dad Podcast.Show Links -Email – benmattlin@gmail.comLinkedIn – https://www.linkedin.com/in/ben-mattlin-3b8b452/Website - https://www.benmattlin.com/Special Fathers Network - SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 500+ 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/channe... Please support the SFN. Click here to donate: https://21stcenturydads.org/do...Find out about Horizon Therapeutics – Science and Compassion Working Together To Transform Lives. https://www.horizontherapeutics.com/Special Fathers Network: https://21stcenturydads.org/Discover more about the Dads Honor Ride 2023 - https://21stcenturydads.org/2023-dads-honor-ride/

Tyler Roope is a 25 year old TikTok star, who blends comedy and education while advocating on behalf of the disability community. He lives with spinal muscular atrophy (SMA) type 2, which severely limits his voluntary muscle movement. Tyler is considered a strong type 2 since he is able to […] The post Tyler Roope on Living with Spinal Muscular Atrophy (SMA) appeared first on Major Pain.

Heather and Jessica Tomko are sisters who both have a genetic, neuromuscular disease called Spinal Muscular Atrophy (SMA). SMA affects the motor neurons, which causes people with SMA to have weak muscles that atrophy over time. Heather and Jessica were both diagnosed as infants, and a life with SMA is all they have ever known. They strive to bring their full selves, disability and all, to a world that is often inaccessible and not accepting of disabilities.Watch full episode on YouTubeResources Mentioned:Heather's blog: https://theheatherreport.comHeather's Instagram: https://www.instagram.com/theheatherreportHeather's work: https://www.caregiving.pitt.eduJessica's Instagram: https://www.instagram.com/jessicatomkoArticle that Jessica wrote: https://triblive.com/opinion/jessica-tomko-disability-representation-in-the-entertainment-industryFilm Pittsburgh Reel Abilities Festival: https://filmpittsburgh.org/pages/reelabilitiesSupport the LYM Podcast:Subscribe to our YouTube channelLeave us a review on Apple Podcasts or SpotifyVisit our website Download our LYM mobile app (available on iOS and Android)Join our mailing listSend a gift to our host VinceWant to sponsor episodes of LYM? Reach out to us on our websiteSupport the show

John Reid ECD Syneos Health, pops in and shares how his team managed to get Genentech and the Spinal Muscular Atrophy (SMA) community into New York Fashion Week and in Vogue.Great lessons here on dreaming the impossible, a new model of the creative team and how the pharmaceutical communications industry can be part of culture.  Links to work below:Vogue: https://www.vogue.com/article/adaptive-fashion-show-at-nyfwPeople: https://people.com/style/open-style-lab-brings-spinal-muscular-atrophy-awareness-to-nyfw-with-inclusive-debut-runway-show/Show highlights: https://www.youtube.com/watch?v=nLOOodsoVB0

Shane Burcaw wants to be a dad. He and his wife Hannah Aylward make no secret of their desire to become parents as they share some of the most private aspects of their unique interabled life together in weekly videos and podcast episodes on their YouTube channel Squirmy and Grubs. But will their ability to have biological kids be thwarted by Spinal Muscular Atrophy (SMA), the disease that has found Shane in a powered wheelchair since he was two years old? Only testing and time will tell. Shane joins the Modern Dadhood conversation to share candidly about their journey with In Vitro Fertilization (IVF). This is part 1 of a 2 part episode.Episode 80 of Modern Dadhood opens with Adam and Marc quickly recounting their recent experience at Podfest Multimedia Expo in Orlando. They shout out to a handful of new podcaster friends and gleefully giggle as they recount their antics. Then shit gets real when they introduce Shane Burcaw into the Modern Dadhood conversation. Shane is a 30 year old author, influencer, podcaster, and founder of a nonprofit called Laughing At My Nightmare, a name which brilliantly sums up Shane's amazing sense of humor and attitude toward his lifelong disability, Spinal Muscular Atrophy (SMA). Shane shares candidly about his disability, his attitude toward his disability, and why he and his wife Hannah (who is not disabled) dedicate their time to advocating for those with physical disabilities, proudly representing the interabled couple population, and living an adventurous and unique life. They've documented the beginning stages of their In Vitro Fertilization (IVF) journey on their channel and their podcast Junkyard Mayhem, and Shane openly discusses it with us. Topics include:•  What is Spinal Muscular Atrophy (SMA)?•  The advancements in treatment•  Young Shane's vision for his future•  Shane's shift in his feelings of self-worth•  Challenges of conceiving when you are dependent on a wheelchair•  Shane and Hannah's options for trying to conceive•  The "testing" process and results•  The odds of having multiples through IVF•  And more!This is part 1 of a 2 part episode.Before closing out the episode, Adam shares a quick and ridic installment of Did I Just Say That Out Loud? Links:Squirmy and Grubs (website)Squirmy and Grubs (YouTube)Junkyard Mayhem Podcast (Apple)Shane's booksSpinal Muscular AtrophyIn Vitro Fertilization (IVF)Podfest Multimedia ExpoCycle Chats PodcastMagical Mindset Moments PodcastKeeping Up With The Chaos PodcastRich Does a ThingRed Vault AudioCaspar BabypantsSpencer AlbeeStuffed Animal

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.01.02.522499v1?rss=1 Authors: Grass, T., Rosignol, I., Thomas, J., Buchner, F., Dokuzluoglu, Z., Dalinskaya, A., Becker, J., Wirth, B., Rodriguez-Muela, N. Abstract: Whether neurodevelopmental defects underlie the selective neuronal death that characterizes neurodegenerative diseases is becoming an intriguing question. To address it, we focused on the motor neuron (MN) disease Spinal Muscular Atrophy (SMA), caused by reduced levels of the ubiquitous protein SMN. Taking advantage of the first isogenic human induced pluripotent stem cell-derived SMA model that we have generated and a spinal cord organoid system, here we report that the relative and temporal expression of early neural progenitor and MN markers is altered in SMA. Furthermore, the corrected isogenic controls only partially reverse these abnormalities. These findings raise the relevant clinical implication that SMN-increasing treatments might not fully amend SMA pathological phenotypes. The approach we have taken demonstrates that the discovery of new disease mechanisms is greatly improved by using human isogenic models. Moreover, our study implies that SMA has a developmental component that might trigger the MN degeneration. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

“When you're choosing a qualified partner for this type of commitment, I strongly feel it's important to make your decision based on the leader. At the end of the day this is a trust thing and the success of our relationship falls on my shoulders.” A natural Leader & Entrepreneur, Aiden loves to hustle, and has a strong work ethic. “It's all I do 24/7, because I am passionate about helping businesses reach their goals. It's in my DNA, even as a kid I was always doing entrepreneurial things like selling lemonade.”. Aiden is driven by Adversity. Severely physically disabled with a neuromuscular disease called Spinal Muscular Atrophy (SMA). His muscles deteriorate overtime which has brought him to his current state. He has 24/7 Caregivers that help him with almost everything besides operating the business. With a life jam packed of Adversity, he claims his disability is less than 20% of that. “The toughest adversities are the ones most can't see at face value”. Aiden has built Green Marketing to roughly $500k annual revenue from his bed. He's determined to take it “To a place of abundance in value for everyone involved with us”. One of his first loves in life is STRATEGY. “I'll forever be addicted to strategy and problem solving.”. Which is how he created most blueprints that our team executes on. “I've been in the industry long enough to identify the pain points and create systems that consistently fix them, over and over again.”. With massive ambitions in life, his 1st priority is to make Green Marketing dominate as the #1 marketing partner in the industry. Onwards he looks to duplicate his systems and dominate other niches as Adversity Media. Followed by a huge leap into the world as a Public Figure. “My north star is redefining the definition of Adversity through Speaking Engagements, Authorship, and creating a humongous community of perseverance. In order to achieve these huge ambitions, I need an army of advocates. Therefore my Key Performance Indicator is building reputation. While most chase money, I chase legacy.” Fun Facts: – I am a huge fan of Anime and Japanese Culture. – I have a girlfriend in the Philippines, and we've been together over 2yrs, while she's worked for us over 4yrs. It's a big goal of mine to bring her to the USA. – I was taken out of school in the 4th grade because my family didn't believe in schooling. That's some more of that Adversity I talked about. I'm COMPLETELY self educated, and have developed my knowledge through pure drive and will power.

Desirée and Jared are both incredible people with demanding lives as parents. They also both live with type 3 spinal muscular atrophy (SMA). Desirée and Jared were featured in The Globe and Mail earlier this month for a story that revealed some of the discrepancies in care and medication access Canadians endure depending on where they live. Desirée lives in Saskatoon and Jared lives in St. Catherines, Ont. 

Join me in an inspiring conversation with Dr. Jessica Hoefler as she shares her story of Piper's Key and her mission to gift inclusive books to children with disabilities that represent their unique selves in a positive light.  Dr. Hoefler is an educational audiologist for the Summit Educational Service Center.  She is also a strong and dedicated mother of 3.  Piper's Key was formed in memory of her middle child, Piper, who passed away after 27 days on earth due to Spinal Muscular Atrophy (SMA type 0).  Had Piper survived, she would be living with multiple disabilities and would need opportunities to grow a positive self-concept.  Dr. Hoefler has been able to combine her mother's love with her professional passion as an audiologist by forming her nonprofit organization Piper's Key.  Through her nonprofit, she gifts inclusive books to children, many of who are deaf and hard of hearing.  If you are a professional working with any children with differences or if you are a parent, please reach out to Dr. Hoefler through the website at www.piperskey.com or email at  piperskey27@gmail.com.   To access a transcript of this episode, visit: https://www.3cdigitalmedianetwork.com/empowear-audiology-podcast  

Dr. Beecher interviews Drs. Nassim Rad and Crystal Yeo on Spinal Muscular Atrophy (SMA) and its Management.

Dr. Beecher interviews Drs. Nassim Rad and Crystal Yeo on Spinal Muscular Atrophy (SMA) and its Management

Dr. Beecher interviews Drs. Nassim Rad and Crystal Yeo on Spinal Muscular Atrophy (SMA) and its Management.

This March at Small-Minded has been all about badass women, and I couldn't let the month pass without inviting my friend and sister-in-law, Amanda Schlemme, to the the podcast.   We're both “old” now as we joke throughout the podcast, but back in the late 00s as I was in college and first dating my now-husband, his sister Amanda was living a fabulous big-city life in the Twin Cities (Minnesota). She did the whole high-heels-every-day, great Banana Republic outfits, CPA thing, and loved it. And I loved when we could get up there and visit! Amanda has always been such a role model to me, but as we've grown older and wiser, I admire her more and more every passing day.   Our family has been through some STUFF to say the least, and as a result by the early 2010s Amanda, her husband Travis, and their family moved back to Cascade, our hometown. We are SO grateful to have her here, for a wealth of reasons:   First off, she's my accountant- and she is brilliant. She keeps me on top of my Quickbooks (thank God), organizes SO MANY freakin' forms for me, and fields all of my “what does this mean?” questions about numbers and government agencies.    Okay, so having a CPA for a close friend is AWESOME, but that is just a small part of this amazing woman.    Amanda is a Swiss army knife, listeners. She's a key part of the family farm, she and her husband own and operate the local tavern and eatery, she chairs the board of the one of the coolest camps ever, and her efforts over the years have contributed to the community in such a big way.   We could have talked about a million things in this episode, but oops! We ended up spending almost the whole episode on just one particular part of her life, which happens to be my personal favorite thing about Amanda - how dedicated she is as a mom. She has two incredible sons earthside, one of whom has Spinal Muscular Atrophy (SMA). At just 14 months old back in 2009, Amanda's son Colin was diagnosed with SMA type 2. This diagnosis not only dramatically altered the trajectory of Amanda's life, but it allowed her to take on big things that have a lasting ripple effect for hundreds of families of SMA.    I will definitely need Amanda back for a Part 2 because I just know you will LOVE this episode, my friends. Key Takeaways After college at University of Northern Iowa Amanda worked as a CPA in the Twin Cities. It was a bit of a culture shock but they carved out a little space in the city and made friends that became family. Amanda loved learning about how different companies worked. Amanda is the mom to two boys: Eli and Colin. Colin had an appointment with a neurologist when he missed some milestones by 15 months old. He was diagnosed with SMA, which at that time, had no cure or treatment. She was told he would never walk, and to not look at the Internet for additional information. She made it two days before she deep-dived online, learning everything she possibly could. She has been such an amazing advocate for Colin, and SMA, ever since. The family made the move back to Cascade where Amanda works with the family farm and businesses including Bale Barn and Two Gingers Tavern and Eatery.  Amanda chairs the board at Camp Courageous in Monticello, Iowa. They offer year-round camps and respite care for people with disabilities. Colin looks forward to MDA (Muscular Dystrophy Association) Camp every year and has been going since he was six. He gets to zip line, hike, swim, ride the train, and more, with the assistance of Camp and his amazing counselors.  Amanda has brought our community together to raise tens of thousands of dollars for Cure SMA through Small Heroes, Mighty Cause. Since Colin's diagnosis, there are now three options for SMA treatment. Colin is an amazing old soul who loves coffee, gambling, and ESPN. He loves all sports, especially baseball, is very observant, and a great listener. He had a major spinal surgery last year but has recovered well and is in good health today. We're so grateful to have Amanda and family back in Cascade! We definitely need her back on the podcast for a Part 2! Connect with Amanda Amanda has so much going on! She is the board chair at Camp Courageous, organizes Small Heroes, Mighty Cause, and is involved in the family businesses Two Gingers Tavern and Eatery and Bale Barn.  Follow for More Follow Small-Minded on Instagram and Facebook Follow Molly Knuth Media on Instagram and Facebook For more about Social or Business School visit mollyknuthmedia.com/shop. Podcast Sponsor: School is in session! Be the first to know about our spring program offers by signing up at https://bit.ly/mkmspring    Depending on where you are in your small business journey, we have options to meet you where you are and help you grow your woman-owned business this spring.   Social School April's focus is on story telling on Facebook and Instagram! What you get: Marketing assistance and education Short daily, easily digestable trainings  100 story starters to plug and play Canva template packs to customize for our business Monthly Q&A with me (Molly!) Accountability! Three social school “students” with win cash prizes of $222 for sticking with it!   Business School is for women in years two through seven of their business and are ready to scale from startup to sustainable. What you get: Guest “professor” with a focus topic each month Two guest experts (“adjunct professors”) throughout the month with a special focus. Hear from HR professionals to start hiring, attorneys to answer legal questions, and more Bonus 1-on-1 coaching with Molly

Our guest this week is Al Freedman of West Chester, PA a Psychologist who specializes in counseling families touched by rare disease and disability. Al is a divorced father of two adult children; Cara (21) and Jack (26), who had Spinal Muscular Atrophy (SMA), a rare neuromuscular disorder, leaving him wheel chair and ventilator dependent. David Hirsch recorded this interview with Al in August, 2021, but ivery sadly, Jack passed away in October at age 26. So, David spoke again with Al this week to have Al reflect on the impact Jack had on him, those he met and beyond. We'll hear the original conversation then we'll hear the follow-up, recorded just a few days ago, on March 23rd 2022. Jack Freedman has shined a positive light on everyone he met. We'll hear about that light and we'll feel that light in this Special Fathers Network Dad to Dad Podcast. Show Links:Cure SMA - https://www.curesma.orgThe Muscular Dystrophy Association - https://www.mda.orgMake A Wish Foundation - https://wish.orgThe DuPont Hospital for Children now known as The Children's Hospital of Wilmingtonhttps://www.nemours.org/locations/wilmington-ai-dupont-childrens-hospital.htmlFreedman Counseling Associates - https://www.freedmancounseling.comAl's email: Al@LinkedIn - https://www.linkedin.com/in/albertfreedman/ Facebook - https://www.facebook.com/albert.freedman1Special Fathers Network - SFN is a dad to dad mentoring program for fathers raising children with special needs. Many of the 500+ 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. Special Fathers Network: https://21stcenturydads.org/about-the-special-fathers-network/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 Please support the SFN. Click here to donate: https://21stcenturydads.org/donate/

In this episode, Nikki Gal and her guest Alyssa dig into living a fulfilling life with a disability, her creative journey, mental health/self love advocacy, and social media boundaries. Alyssa Silva is an artist, blogger, disability/mental health advocate, ambassador, digital creator, nonprofit owner, and inspiration to myself as well as others. Alyssa was born with Spinal Muscular Atrophy (SMA) and has been living her best life. She shows glimpses of her life of social media and blog to show the world her fulfilling life with a disability, everyday photos, mental health reminders, as well as her beautiful art/designs. Check out her journey: @alyssaksilva Check out her nonprofit: workingonwalking.org Shop/support her art: alyssaksilva.com

You're listening to the voice of Dr. Kathy Swoboda, who is the Katherine B. Sims MD Endowed Chair in Neurogenetics and Director of the Neurogenetics Unit in the Center for Genomic Medicine at the Massachusetts General Hospital and Harvard Medical School. Her research and clinical activities are dedicated to the diagnosis and treatment of inherited motor disorders of childhood-onset, with a particular focus on genotype-phenotype studies documenting onset and timing of progressive denervation in infants with Spinal Muscular Atrophy, also known as SMA.   Dr. Swoboda collaborated closely with Cure SMA in helping to obtain critical data necessary to support the addition of SMA to the Newborn Screening Recommended Universal Screening Panel (RUSP), and with the American College of Medical Genetics and Genomics (ACMG) and Newborn Screening Translational Research Network also known as NBSTRN to build tools suitable for use for newborn screening follow-up for infants with SMA.   In this episode, Dr. Swoboda will describe the important research efforts that led to newborn screening for spinal muscular atrophy (SMA) and how different interventions are impacting the lives of newborns with SMA. Dr. Swoboda has played a significant role in getting SMA to be added to the recommended uniform screening panel (RUSP) and her journey from a clinician to a researcher is truly inspiring. So, listen on.   Interview Questions with Dr. Swoboda: 1. Could you tell us what is spinal muscular atrophy (also known as SMA)? 2. You and your research were involved in SMA being recommended to nationwide screening. Can you describe this experience? 3. How have the families you work with been impacted by the addition of SMA to nationwide newborn screening? 4.  What is the importance of early identification and treatment by NBS. What are current interventions for individuals with the SMA? 5. Why is NBS research for SMA important? 6. How has NBSTRN helped your research in SMA? 7. What career advice could you give to someone interested in being a clinician-researcher like yourself? 8. What does NBS research mean to you? To learn more about newborn screening research, visit www.nbstrn.org

To start the episode the guys give their thoughts  on two recent summer movies; Asif talks about “The Suicide Squad” and Ali reviews “The Green Knight” (2:00). Then the guys talk about the 40th anniversary of one of the greatest summer movies of all time, ‘Raiders of the Lost Ark' (18:55). The guys start off by talking about their personal connections to the movie. They then talk about how George Lucas and Steven Spielberg crafted the character of Indiana Jones and the development of the first movie, as well as trivia about the film. Then Ali asks Asif about Spinal Muscular Atrophy (SMA) (39:39). Asif goes over the genetic cause of the disorder as well as the common presenting symptoms. Asif then goes over the (near-miraculous) new treatments for SMA and the high cost of these new therapies.    Show notes: The Pulp and Pleasure of ‘Raiders of the Lost Ark,' 40 Years Later: https://www.theringer.com/movies/2021/6/11/22528978/indiana-jones-raiders-lost-ark-anniversary-lost-knowledge The Making Of Raiders Of The Lost Ark: https://www.empireonline.com/movies/features/indiana-jones-making-raiders-lost-ark/ Advances in Treatment of Spinal Muscular Atrophy – New Phenotypes, New Challenges, New Implications for Care: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7029319/ Spinal muscular atrophy — insights and challenges in the treatment era: https://www.nature.com/articles/s41582-020-00413-4 Canadian first: Baby with rare disorder given early treatment thanks to new screening at CHEO: https://ottawa.ctvnews.ca/canadian-first-baby-with-rare-disorder-given-early-treatment-thanks-to-new-screening-at-cheo-1.5214124 YouTube video links from various US hospitals regarding patients treated for spinal muscular atrophy: UNC: https://www.youtube.com/watch?v=aEIXKHptpiQ Children's Hospital Colorado: https://www.youtube.com/watch?v=3DcO4fJ09ng Nationwide children's: https://www.youtube.com/watch?v=yRrqbvUv6gQ

Jose Flores is the CEO and Founder of Indispensable Now. a Global Motivator, Mindset Disruptor, and Best-Selling Author. In this episode we cover, How he thrived living with Spinal Muscular Atrophy (SMA), a neuromuscular disease that weakens the muscles and has been living life in a wheelchair since the age of 22. Overcame living with insecurities and feelings of insignificance. How did he met his wife Andrea also known as Jose's secret weapon, Mentored by the legendary Les Brown and skyrocketed his speaking career. This podcast episode is a story about hope, faith and love, a heartwarming story that would inspire you to think positively about the challenges you have in your business, family, relationship, and life.  Learn more here:    --

Viola Dwyer was born with Spinal Muscular Atrophy (SMA), a neuromuscular disease that causes her to use a wheelchair. She earned a BA from the Johns Hopkins University and later an MBA from Duke University. She worked in Human Resources during and after business school until in 2015 she decided to strike out on her own as a consultant. In 2020, she and her husband started a YouTube channel called, The Ginchiest, where they talk about disability experiences and what these experiences teach people about being human. ----- This interview is brought to you by the Enabled Disabled Project. The Enabled Disabled Podcast is created for adults and children with disabilities, families and friends who care for them, professionals who treat and help people with disabilities, as well as people and companies who want to learn more. Ways to support us: Subscribe to this podcast Share your story: https://www.enableddisabled.com/share Become a corporate sponsor: https://www.enableddisabled.com/sponsorship Make a personal contribution of any amount: https://www.enableddisabled.com/contribute --- Send in a voice message: https://anchor.fm/enableddisabled/message Support this podcast: https://anchor.fm/enableddisabled/support

We continue our discussion with John and Monica English. In the first episode, we spoke with them about the loss of their daughter, Taleah and in this episode, they open up about being able to help contribute towards Spinal Muscular Atrophy (SMA) research following Taleah's passing, why it helped when their daughter Tabitha was born and ultimately diagnosed with SMA, and how it prepared the family to tackle such an experience head-on. John and Monica also recall how SMA policies and protocols changed to help many of others who suffered from experiences as they had for so long with Taleah and what resiliency means to them after losing two of their daughters. See omnystudio.com/listener for privacy information.

Today we are joined by our friend, Megan DeJarnett. Megan is the founder of No Such Thing, a company with a mission to help others redefine purpose by removing defining labels. As an author, she is currently producing a series of children's books including No Such Thing as Normal. Megan was diagnosed at the age of 2 with Spinal Muscular Atrophy (SMA). With a tremendous faith in God and the love and support of her family, Megan lives life determined to experience life to the fullest and choose joy over despair. In addition to being an author, Megan is a speaker, a wife, a mother and was crowned Ms. Wheelchair Tennessee. **Thank you to our sponsor for this episode, Hertog Education Law at http://www.makeschoolwork.com. Schedule your free consultation if you live in CA.** CONNECT WITH MEGAN DEJARNETT NO SUCH THING WEBSITE MEGAN ON INSTAGRAM CONNECT WITH OUR SHOW INSTAGRAM | @advocatelikeamother TWITTER | @advocatelikeamom EMAIL | Hello@advocatelikeamother.org --- Send in a voice message: https://anchor.fm/advocatelikeamother/message

In this week's episode, Jennie Taylor and Michelle Scharf are joined by John and Monica English to remember their daughter, Taleah. They recall the moment that Taleah was diagnosed with Spinal Muscular Atrophy (SMA), how they were able to provide the best care for Taleah, and the impact that Taleah's diagnosis had on their family. Then John and Monica talk about losing Taleah a couple of days before her 4th birthday, where they got the inspiration for her funeral, and how they learned to be so resilient after Taleah's passing.See omnystudio.com/listener for privacy information.

Half Past Two is a 9-piece blend of ska, rock, reggae, and pop punk from Orange County, California. Their most recent EP “Something Blue” was released to acclaim this past summer and was produced by David Irish (Reel Big Fish, Suburban Legends) at Pot O' Gold Recording in Orange, California. The band is now back with a new single "Shine" set for release on November 13, 2020. The song is the first single from the band's upcoming full-length due out in Summer 2021. Previously featured on the 'Ska Against Racism' compilation (Asian Man Records/Bad Time Records/Ska Punk Daily), the track has special meaning to the band, and frontwoman Tara Hahn in particular, who says, "Shine” is very personal and writing and releasing it has been cathartic. I penned it at the time my family found out that our daughter has Spinal Muscular Atrophy (SMA), a neuromuscular disease. I didn't write the words to share, but my bandmates really encouraged me to evolve the song, and we raised some awareness for SMA when we released it acoustic. But we thought it was pretty powerful and wanted it to be an energetic and exciting Half Past Two song like we're known for. Then the opportunity came; “Shine” belonged on Ska Against Racism because it's about our responsibility to the future. Releasing it in this way, with a passionate feeling and full band for SAR is still very uplifting, and I'd just like people to rally for that if they can." Website: halfpasttwoska.com Facebook: facebook.com/halfpasttwoska Instagram: instagram.com/halfpasttwoska Youtube: youtube.com/user/halfpasttwoska Spotify: spotify:artist:68OATyajBIyM3EDtVObBSB Twitter: twitter.com/halfpasttwoska Bandcamp: halfpasttwoska.bandcamp.com This episode is proudly brought to you by: #Manscaped: https://www.manscaped.com/ use code "SUCKITPODCAST" for 20% off and free shipping #Betterhelp : https://www.betterhelp.com/sipod for 10% off #H2one #Handsanitizer : https://h2one.com/ BUY MERCH!!!!! #Merch Store: https://www.dckproductions.com/shop Follow me: https://www.instagram.com/suckitpodcast https://www.facebook.com/suckitpodcast https://www.twitter.com/suckit_podcast --- Send in a voice message: https://anchor.fm/thedarksideofmusic/message Support this podcast: https://anchor.fm/thedarksideofmusic/support

"Mackenzie isn't a sad story. She's incredible.” So says today’s extraordinary guest Rachael Casella. She’s describing her beautiful daughter Mackenzie, who tragically passed away at seven months after being diagnosed with the fatal genetic disorder Spinal Muscular Atrophy (SMA). Despite experiencing the most traumatic, devastating thing a parent could ever endure, Rachael and her husband Jonny are determined that Mackenzie’s life will not be defined by her loss, but by everything she brought to the world. "By experiencing and witnessing the end of someone's life, you can enhance your own,” she tells host Georgie Abay. “I am a better person because of her”. Since Mackenzie was first diagnosed at just 10 weeks of age, Rachael and Jonny have been a force in campaigning for access to genetic screening for parents. Their incredible dedication to the cause ensures Mackenzie’s legacy lives on, via their successful campaign Mackenzie’s Mission. And with the release of her new book, Mackenzie’s Mission, Rachael hopes that sharing her story will continue to drive the change needed to ensure that more families don’t suffer needlessly. Since losing Mackenzie, Rachael and Jonny have undertaken nine rounds of IVF, hoping to avoid another SMA diagnosis. They’ve had two further pregnancies which, excruciatingly, they have had to medically terminate due to genetic and chromosomal conditions. Mackenzie’s siblings Bella and Leo now join her as angels. In today’s emotional, but uplifting conversation, we speak to Rachael about: Mackenzie’s early days and the diagnosis that changed everything Why she and Jonny chose not to trial a supposed ‘wonder drug’ treatment How they celebrated Mackenzie’s ‘monthday’ each month, knowing she likely wouldn’t survive to her first birthday Why travel and experiences were their priority for Mackenzie’s life Mackenzie’s passing and what that experience was like How to support someone through grief, and what not to do Her experience of IVF and why she feels she was naïve going into it The story of Bella and Leo Mackenzie’s Mission and what it has achieved How sharing snippets of Mackenzie’s life on Instagram turned into a book Why she believes she is a better person for having gone through what she has Why her message is one of love and joy You can find Rachael on Instagram at @mylifeof_love and purchase her book here.See omnystudio.com/listener for privacy information.

Pediatric neurologist Elizabeth Kichula, MD, PhD, discusses the pathophysiology and clinical presentation of spinal muscular atrophy (SMA), prenatal screening, diagnosis and treatment for this neurodegenerative disease. Published November 2019. This podcast is for general informational and educational purposes only and is not to be considered as medical advice for any particular patient. Clinicians must rely on their own informed clinical judgment in making recommendations to their patients. ©2019 by Children's Hospital of Philadelphia, all rights reserved.