Podcasts about congenital muscular dystrophy

Send me a Text Message about the show!I'm a little late to highlight rare disease month.  Technically, the month of February traditionally is Rare Disease awareness month with Rare Disease Day falling on February 28th.  But, sadly, as is happening with so many awareness months and days in the US, the FDA/NIH planned 2 day meeting focused on Rare Disease Day on 2/27 and 2/28 was cancelled this year.  So, I guess I'm not too late after all, and instead I'm declaring today, the day you are listening to this podcast to be Rare Disease Day.  A day to raise awareness for the 300 million people world wide living with a rare disease.  A rare disease is when a disease affects fewer than 1 in 2000 people. And that rareness causes significant challenges.  A lack of scientific knowledge and study about these diseases can make diagnosis more difficult. Many people with a rare disease spend a long time being misdiagnosed and therefore unable to access the types of treatments or support best suited for their actual disease.  Funding for research can be harder to find when you are studying a disease that impacts a smaller proportion of the population.  And yet, that smaller proportion does not make the difficulty of living with a rare disease any easier.  So awareness is incredibly important, to bring attention to those with rare disease, to create support and community, and to encourage research.  And today, I have two women as my guests on the show that are living with a rare disease.Avery Roberts resides in New York, and is a wearer of many hats — an advocate, dancer, foodie, and avid traveler. She was the first wheelchair user to perform on the great stage of the world-renowned Radio City Musical Hall in New York City, as well as, separately, among the first few wheelchair users to feature in a nationally televised live production, where she appeared as a dancer.Kelly Berger resides in Cincinnati, Ohio, and is a passionate advocate for rare disease, winning a 2024 RareVoice Award. She adores live music and is always attending a concert, typically driving states away to see her favorites. Kelly utilizes her adapted mobility van as her means of independence fueling her thirst for constant travel adventures—she's explored over 40 states and counting.They both have Congenital Muscular Dystrophy or CMD for short and they both were recently on Capitol Hill lobbying for Rare disease the last week in February.  We talk about rare disease, the challenges facing those in the disability community, and the importance of having a seat at the table.Resources mentioned in this episode:Rare Disease AwarenessCongenital Muscular DystrophyAll Wheels UpSupport the showKeep up with all things WeSTAT on any (or ALL) of the social feeds:Instagram: https://www.instagram.com/westatpod/Threads: https://www.threads.net/@westatpodFacebook: https://www.facebook.com/westatpod/LinkedIn: https://www.linkedin.com/company/westatpod/Twitter: https://x.com/WeSTATpodHave a topic or want to stay in touch via e-mail on all upcoming news?https://www.westatpod.com/Help monetarily support the podcast by subscribing to the show! This is an easy way to help keep the conversations going:https://www.buzzsprout.com/768062/supporters/new

The Battle for Disability Rights Hollis Peirce, 36, has courageously fought Congenital Muscular Dystrophy for his entire life and even launched a power hockey league for the disabled in Canada.On the Lean to the Left podcast, Hollis discusses his long battle for disability rights and the threat that Donald Trump poses for disabled individuals who rely on Medicaid and other government assistance programs that would be shut down under Trump's order to freeze federal spending for grants, loans and other aid programs.Hollis shares his perspectives on Trump's actions, emphasizing the adverse effects on vulnerable populations, including individuals with disabilities of any Medicaid freeze, and the importance of standing up for disabled Americans.He also discusses his advocacy work, his achievements despite his condition, and his podcast, '21st Century Disability,' which explores modern perspectives on living with disabilities.Additionally, Hollis highlights ongoing challenges for people with disabilities in both the U.S. and Canada and stresses the importance of understanding and supporting disability rights. Disabled voices matter, and Peirce's is one of the most effective voices dedicated to empowering the disabled community.CHAPTERS:00:00 Introduction to Lean to the Left Podcast00:06 Trump's Shock and Awe Campaign01:56 Interview with Hollis Peirce Begins02:03 Trump's Policies and Their Impact04:19 Healthcare and Disability Advocacy13:26 Hollis Peirce's Personal Journey15:56 Challenges and Achievements24:22 Power Wheelchair Hockey League28:24 Final Thoughts and MessageAbout Bob GattyA former journalist and communications consultant, Bob Gatty is the founder and editor of the Lean to the Left blog and host of this podcast, which focuses on progressive politics and the important social issues of our time.Please check out Bob's new book, Hijacked Nation: Donald Trump's Attack on America's Greatness, now available on Amazon.com. Barnes & Noble and other outlets. Paperback: $11; Hardcover: $24. Digital version: $3.99.As we continue to explore pressing social issues, I encourage everyone to share their stories and experiences. Your voice matters!DISCLAIMER: Some links in this description are affiliate links, which means if you make a purchase through them, you won't pay any extra – in fact, you may even save with a discount! Using these links helps support this channel, allowing us to keep providing free content to help you on your journey. Thank you for your support.

This week on the Lion 40 Podcast and our discussions on leadership, I speak to Marcella Genut, who at a young age was diagnosed with Congenital Muscular Dystrophy. She learned at a young age that life wasn't going to be easy but being different really changed how she decided she was going to live her life. She knew she was meant to do more and didn't let others' opinions keep her from striving toward her goals of becoming a spokesperson for Muscular dystrophy with a variety of organizations and non profits, graduated with a degree in Public Relations from the University of Georgia where she now is an academic advisor, and running her own business.

ONCE UPON A GENE - EPISODE 108 Finding Hope: From Diagnosis to Action - LMNA Related Congenital Muscular Dystrophy - Hannah Lowe Hannah Lowe is the President and Co-Founder of the L-CMD Research Foundation. Her son Austin has a rare form of muscular dystrophy (L-CMD) caused by a genetic mutation and she's urgently working to find a cure for her son and other kids like him.  EPISODE HIGHLIGHTS Can you tell us about your children? I have two sons— Ean who is four and Austin who is two. Last year, Austin was diagnosed with a rare disease resulting from a randomly occurring genetic mutation. He was about 6 months old when he was diagnosed. Austin wasn't gaining weight, so after 6 months he was admitted to the hospital to get a feeding tube to aid in nutrition. He was in the hospital for three weeks while they ran a series of tests to find the underlying cause of his low weight. Every test came back clear until the genetic tests came back. That's when it was discovered that Austin has a single point mutation on the LMNA gene which results in L-CMD, which is a rare form of muscular dystrophy. What did you do after you got Austin's diagnosis? After getting a new routine worked out, we turned our attention to figuring out what we can do. We started making connections, talking to everyone and gathering information. L-CMD has a fair amount of research happening for the gene itself because genetic mutations of the gene cause about 12 other diseases. Through networking, we connected with a group of other rare disease families working on treatments and cures for their own rare diseases. With some helpful connections, we took baby steps to start a nonprofit. What roadblocks have you hit and what would you do differently? The biggest roadblock is expectation versus reality. When we first started, researchers told us the pace of research is slower than the progression of the disease. We didn't accept that, but it has been a big mindset shift to know this is in fact the case. CONNECT WITH THE L-CMD RESEARCH FOUNDATION L-CMD Research Foundation Website https://www.lcmdresearch.org/ L-CMD Research Foundation on Instagram https://www.instagram.com/lcmd.foundation/ L-CMD Research Foundation on Facebook https://www.facebook.com/LCMD.foundation L-CMD Research Foundation on Twitter https://twitter.com/foundationlcmd RESOURCES AND LINKS MENTIONED Discord Chat https://discord.com/invite/7UFUPAFs8K ONCE UPON A GENE - Episode 104 - A Rare Collection- Stories of Courage with Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna Colquitt https://effieparks.com/podcast/episode-104-rare-collection-courage Givebutter https://givebutter.com/ 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/

Matt Vocino is a fantastic storyteller and an awesome friend, and I had a fun time chatting with him for our final episode of Season One! Matt was born with Congenital Muscular Dystrophy, but he's travelled to Europe, the Caribbean, and even to the Olympics. We chatted about the challenges of travelling in a wheelchair, some fun travel stories, the future of the airline industry for people who travel with disabilities, and much more!!

This overview is provided to help you understand the current evidence for diagnosing and managing congenital muscular dystrophy (CMD).

In today's episode, I chat with Dr. Jeff Preston, an assistant professor of disability studies at KIng's College and a disability advocate. After being diagnosed with Congenital Muscular Dystrophy & being confined to a wheelchair for most of his life, Jeff has learned to view what others consider a disadvantage as his own advantage. If you're struggling with feeling isolated by your differences, this is the episode for you. Jeff dismantles the societal idea of "normal," explains how he's been able to find the positivity in his disability, and emphasizes the value in being different. For more information on Jeff Preston: JEFF'S WEBSITE: http://www.jeffpreston.ca/about/about-jeff-preston/GET MOBILIZED: https://www.facebook.com/getmobilized

Speech Science has a guest host all the way from Seattle, Julie Fechter.  Julie, a PRN SLP in a variety of positions, weighs in on the news around speech and language.  Matt and his kids began their donut trail, Michelle returns from a vacation, and Michael has begun working with local school districts.      Matty Manley and Megan Meyer met at Rare Disease Week on Capital Hill and something clicked between them.  As parents to children with congenital muscular dystrophy, they decided to educate others and find a way to help their children along the way.  Two Rare Mama Bears Podcast was born.  Matty and Megan sit down with Matt to talk about their journey.      Patient Driven Payment Model goes into effect in less than 2 weeks.  What does this look like for the therapists?  Some therapists have been told their hours are getting cut while others are being told to see patients in a group while some have gotten a 3% pay cut.    Do you target executive functioning in your therapy sessions?  What exactly is our role and how do we target this?  Michael talks about how he looks at it in his clinic.  Michelle explains hippo therapy and how it can help.      Email: speechsciencepodcast@gmail.com Voicemail: (614) 681-1798   New Episode and Interact here: www.speechsciencepodcast.com podcast.speechsciencepodcast.com   Patreon – A Chance for Dinner at ASHA https://www.patreon.com/speechsciencepodcast  ----more---- Rate and Review: https://itunes.apple.com/…/speechscience-org-…/id1224862476…   Show Links Two Rare Mama Bears https://www.curecmd.org/podcast   PDPM http://www.foundationsgroup.net/files/126558935.pdf https://www.asha.org/practice/reimbursement/medicare/medicare-patient-driven-payment-model/ https://www.asha.org/uploadedFiles/AOTA-APTA-ASHA-Consensus-Statement.pdf https://skillednursingnews.com/2019/09/skilled-nursing-operators-shouldnt-count-on-investors-to-share-pdpm-optimism/   Executive Functionig https://leader.pubs.asha.org/doi/10.1044/leader.SCM.24092019.36   Therapy Horses https://abc7chicago.com/pets-animals/therapy-horse-helps-military-first-responders-in-palos-hills/5541395/   Intro Music: Please Listen Carefully by Jahzzar is licensed under a Attribution-ShareAlike License. Bump Music: County Fair Rock, copyright of John Deku, at soundcloud.com/dirtdogmusic Closing Music: Slow Burn by Kevin MacLeod is licensed under a Creative Commons Attribution License.     Speech Science Powered by: You!  

Congenital Muscular Dystrophy (CMD) is an inherited disease that atrophies skeletal muscles and results in poor development of motor skills and other modes of movement. While dental hygienists obviously don't treat CMD, they will nevertheless likely encounter patients who live with the disorder and consequently have special requirements in the dental chair. Matty Manley and Megan Meyer are the hosts of the Two Rare Mama Bears podcast, where they discuss CMD in all its forms, explore the difficulties faced by those who live with it, and speak to a variety of experts and policy-makers on the subject. Matty and Megan are themselves both mothers to children affected with congenital muscular dystrophy and also lead the CMD advocacy team. In this episode, Megan and Matty discuss their own highs and lows raising children who live with CMD, help us understand just how convoluted the diagnosis process can be, and explain how our offices and techniques should aim to accommodate for patients with CMD.   EPISODE HIGHLIGHTS: Interview starts: 8:44 - How Megan and Matty found common ground and ended up launching the Two Rare Mama Bears podcast. - Their method for planning the podcast, coming up with episode ideas, and seeking out guests. - Defining muscular dystrophy and its effects on those who live with it. - What specialized difficulties do patients with CMD experience when receiving dental and/or orthodontic treatment? - Matty and Megan explain just how complicated and protracted a process it was for them to confirm their children's CMD diagnoses. - How Megan and her family had to become “medical refugees” to get better medical care. - Megan and Matty's experiences dealing with people insensitive to their children's conditions and what terminology dental professionals should use with regards to those affected by CMD. - What dental offices can do to be more accommodating to those living with CMD. - What are the different subtypes of muscular dystrophy?   QUOTES: “‘Failure is not an option' came from us saying ‘Okay, we have no idea what we're doing, but we have to make it work'.” “We had one of the shortest diagnostic journeys—and it took us two years.” “Dental care might be further down on their priority list because they're literally trying to stay alive.” LINKS: Cure CMD homepage - https://www.curecmd.org/ Two Rare Mama Bears podcast - https://www.curecmd.org/podcast   Thank you to Paradise Dental Technologies aka PDT for providing sponsorship for this episode! THIS EPISODE COUNTS FOR CE! - but read the disclaimer below as it might not count for your state. Go here to take the test and get your CE credit! Be sure to thank the sponsor for this episode by heading over to www.PDTDental.com and picking up a new instrument or telling them thank you in person at one of the conferences! A Tale of Two Hygienists homepage - https://ataleoftwohygienists.com/   AToTH on Facebook - https://www.facebook.com/aTaleOfTwoHygienists/   AToTH on Instagram - https://www.instagram.com/ataleoftwohygienists   AToTH on LinkedIn - https://www.linkedin.com/company/atoth/?originalSubdomain=ca  

Congenital Muscular Dystrophy (CMD) is an inherited disease that atrophies skeletal muscles and results in poor development of motor skills and other modes of movement. While dental hygienists obviously don’t treat CMD, they will nevertheless likely encounter patients who live with the disorder and consequently have special requirements in the dental chair. Matty Manley and Megan Meyer are the hosts of the Two Rare Mama Bears podcast, where they discuss CMD in all its forms, explore the difficulties faced by those who live with it, and speak to a variety of experts and policy-makers on the subject. Matty and Megan are themselves both mothers to children affected with congenital muscular dystrophy and also lead the CMD advocacy team. In this episode, Megan and Matty discuss their own highs and lows raising children who live with CMD, help us understand just how convoluted the diagnosis process can be, and explain how our offices and techniques should aim to accommodate for patients with CMD.   EPISODE HIGHLIGHTS: Interview starts: 8:44 - How Megan and Matty found common ground and ended up launching the Two Rare Mama Bears podcast. - Their method for planning the podcast, coming up with episode ideas, and seeking out guests. - Defining muscular dystrophy and its effects on those who live with it. - What specialized difficulties do patients with CMD experience when receiving dental and/or orthodontic treatment? - Matty and Megan explain just how complicated and protracted a process it was for them to confirm their children’s CMD diagnoses. - How Megan and her family had to become “medical refugees” to get better medical care. - Megan and Matty’s experiences dealing with people insensitive to their children’s conditions and what terminology dental professionals should use with regards to those affected by CMD. - What dental offices can do to be more accommodating to those living with CMD. - What are the different subtypes of muscular dystrophy?   QUOTES: “‘Failure is not an option’ came from us saying ‘Okay, we have no idea what we’re doing, but we have to make it work’.” “We had one of the shortest diagnostic journeys—and it took us two years.” “Dental care might be further down on their priority list because they’re literally trying to stay alive.” LINKS: Cure CMD homepage - https://www.curecmd.org/ Two Rare Mama Bears podcast - https://www.curecmd.org/podcast   Thank you to Paradise Dental Technologies aka PDT for providing sponsorship for this episode! THIS EPISODE COUNTS FOR CE! - but read the disclaimer below as it might not count for your state. Go here to take the test and get your CE credit! Be sure to thank the sponsor for this episode by heading over to www.PDTDental.com and picking up a new instrument or telling them thank you in person at one of the conferences! A Tale of Two Hygienists homepage - https://ataleoftwohygienists.com/   AToTH on Facebook - https://www.facebook.com/aTaleOfTwoHygienists/   AToTH on Instagram - https://www.instagram.com/ataleoftwohygienists   AToTH on LinkedIn - https://www.linkedin.com/company/atoth/?originalSubdomain=ca  

Join me and my guest co-host, Shelley Winget as we laugh, cry and learn from Rachel Parry what unconditional love and sacrifice looks, and feels like. In this episode, Rachel, Carson's mom explains what it's like to care for a child with disabilities, and shares lessons she's learned as she's found herself through her special son.  When Carson was 16 months old, he was diagnosed with a very rare form of Congenital Muscular Dystrophy -Muscle Eye Brain Disease (MEB). It's an inherited disease. There are only between 15-20 diagnosed cases of MEB in North America. It's that rare. MEB causes Severe Migraines/Headaches, Depression, Muscle weakness, vision abnormalities, brain structure abnormalities, severe intellectual disabilities. There's no cure.  Carson can't walk or speak.  He's learned to say Maam to call for his Mother, and imitate certain sounds to communicate.  Carson is 15 years old, he has a great sense of humor and loves to laugh. His favorite song is "Splish-Splash I was taking a bath." He's protected and loved by the family dogs and adored by his classmates in school and treasured by his family at home.  In her spare time, Rachel works as a substitute teacher. She loves the children she teaches as she brings to the classroom a special ability to notice the children that need extra love and support. 

Having a sibling with special needs is a reality many for many children, impacting the whole family. It’s a family dynamic that can both strengthen and stress even the tightest of bonds. Siblings of someone with special needs are more empathetic, more responsible and more resilient - but frequently they shoulder tremendous burdens that are not often or easily discussed. In this episode Matty interviews Miranda (age 7) and Joshua (age 3) and Megan interviews Ethan (age 11) about their experiences as siblings of Matthew (age 5) and Lilly (age 7), who live with Congenital Muscular Dystrophy. Find Two Rare Mama Bears on Facebook, Instagram & Twitter: 2raremamabears

The transition from summer back to school can be overwhelming for everyone, especially families of individuals with disabilities. To help ease the stress and smooth the transition for families, we invited Lani Knutson of Milwaukee, Wisconsin to provide some tips and tricks as both a parent of children with Congenital Muscular Dystrophy, but also as an educator.

As family or community members within the Congenital Muscular Dystrophy community, resiliency is paramount to thriving in complex and busy lives. In this episode we talk about stress and worry associated with CMD and how we, as a community, can capitalize on those struggles to be resilient and find grace despite adversity - and push to the point of where magic happens when you venture outside your comfort zone.

Welcome to the first podcast of Two Rare Mama Bears, a Cure CMD Podcast. In this episode Matty and Megan discuss the purpose and goals of the podcast, how they met each other, their respective diagnostic journeys, impacts on daily life, and how to encourage your family member with Congenital Muscular Dystrophy to excel and help figure out their normal despite overprotective fears!

Professor Francesco Muntoni Discusses Congenital Muscular Dystrophies Guest: Professor Francesco Muntoni, Chair of Paediatric Neurology, United College London Institute of Child Health, Dubowitz Neuromuscular Centre Access an abstract of this month’s featured research article: The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol. 2012 Jul;72(1):9-17.

Professor Francesco Muntoni Discusses Congenital Muscular Dystrophies Guest: Professor Francesco Muntoni, Chair of Paediatric Neurology, United College London Institute of Child Health, Dubowitz Neuromuscular Centre Access an abstract of this month’s featured research article: The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol. 2012 Jul;72(1):9-17.

Guest: Dr. Carsten Bonnemann, MD, Senior Investigator, Neurogenetics Branch, and Chief of Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health Access an abstract of this month's featured research article: Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol. 2011 Jan;69(1):206-11.

Guest: Dr. Carsten Bonnemann, MD, Senior Investigator, Neurogenetics Branch, and Chief of Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Neurological Disorders and Stroke, National Institutes of Health Access an abstract of this month's featured research article: Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy. Ann Neurol. 2011 Jan;69(1):206-11.