Podcasts about Rare Disease Day

In this special episode of the #BeyondHAE podcast, we hear from three passionate young advocates, Zach, Angel, and Arabel who took their voices to Capitol Hill during the EveryLife Foundation's Rare Disease Week events. Representing the HAEA community, they met with legislators to push for policies that improve the lives of people with rare diseases and their families.Tune in as they share their experiences from the event, discuss the importance of Rare Disease Day, and break down the key issues they advocated for. They'll also explore ways that you, no matter where you are, can get involved in rare disease advocacy from home.Join us for an inspiring conversation about the power of young advocates, the policies that matter, and the impact they hope to make for the HAE and rare disease community!This youth produced podcast is brought to you thanks to the support of the Hereditary Angioedema Association, a patient advocacy organization serving the needs of the HAE patient and caregiver community. To learn more about the HAEA and access our incredible support network, visit, ⁠⁠⁠www.haea.org⁠⁠⁠.Thank you to our sponsors, ⁠⁠⁠⁠⁠⁠⁠KalVista⁠⁠⁠⁠⁠⁠⁠ and ⁠⁠⁠⁠Pharvaris⁠⁠⁠⁠.

The latest episode of [ The Roar ] is here!This episode, we're diving into:

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

This week, JD & Steve talked about the 1986 cinematic masterpiece Howard the Duck. They break down the plot, the casting, the history of the comic book character it is based on. They also explored its lasting legacy and cover the latest news in movies and Star Wars!Show Links: Donate to the Rare Disease Day charity - https://bit.ly/4bISy65Razzie Awards - https://bit.ly/3F52zxX #rebelnerdradio #popculture #howardtheduck #starwarspositivity #starwarsisforeveryone #podcast #squirrelmode Follow us at https://bio.link/rebelnerdradio

Last week in Headlines, sonographer Dana Rowland shared her first-person account of living with Addison's disease. Addison's is considered a rare disease and Rowland shared her story as part of Rare Disease Day, which falls on the last day of February each year. Now, Rowland has taken the time to join The Wrap. Tune in for an enlightening conversation about her daily life and how her health care journey impacts her work in a positive way. Check it out today! Hosted on Acast. See acast.com/privacy for more information.

28th February 2025 marks international Rare Disease Day. This is a day to bring awareness to rare diseases and the problems faced. ALAN is marking their t-shirt release with an exhibition where the artist explores what would household objects look like if they were deformed. Over 30,000 people in Luxembourg are diagnosed with a rare disease, a process that takes on average 5 years to get a correct diagnosis.

The world's oldest person known to be living with the rare disease MSMD, has welcomed the announcement of an NHS rare disease collaborative network dedicated to sharing expertise on the […]

In this episode of the Being Rare Podcast, Sarita sits down with James Griffin and Genesis Jones, patient advocates and authors. We're talking about navigating life with sickle cell, healthcare bias, stigma, and more!The books mentioned in this episode can be found on Amazon. Direct links are below.Breaking Silence: Living with Sickle Cell Anemia by James Griffin III https://a.co/d/3znpc3sRebirth: A Sickle Cell Warrior's Crossover (Warrior's Sickle Cell Poetry Collection) by Genesis Jones https://a.co/d/3lVQL7ZResilient: Reflections of a Sickle Cell Journey (Warrior's Sickle Cell Poetry Collection) by Genesis Jones https://a.co/d/73XsFla

(3:05) — GIANTS: Reports have linked the Giants and Matt Stafford, but will this solve their roster woes? (8:15) — JETS: Aaron Glenn faces the media and has high hopes for the Jets' upcoming season. (10:37) — SPRING TRAINING: JJ gives his early thoughts on the Yankees and Mets in spring training. (13:17) — KNICKS: The Knicks win a tough game against the 76ers, and head to Memphis to face the Grizzlies on Friday. (17:02) — CALLS: Callers talk Yankees. (25:32) — BERNIE WILLIAMS: Yankees great Bernie Williams returns to discuss Jasson Domínguez's chance to make a move, the Red Sox-Yankees rivalry, and his efforts for Rare Disease Day. (51:49) — EMMANUEL BERBARI: Yankees radio announcer Emmanuel Berbari joins the show to discuss the Yankees' 2025 season, Cody Bellinger, and which one of the young Yankees will have a breakout season. The Ringer is committed to responsible gaming. Please visit www.rg-help.com to learn more about the resources and helplines available. We always want to hear from you! Leave JJ a message on the listener line at 917-382-1151. Follow JJ on Twitter: https://twitter.com/john_jastremski Follow 'NYNY' on Instagram: https://www.instagram.com/nynytheringer/ Host: John Jastremski Guests: Bernie Williams and Emmanuel Berbari Producer: Stefan Anderson Learn more about your ad choices. Visit podcastchoices.com/adchoices

Rare Disease Day by Maine's Coast 93.1

Welcome back to our first repeat podcast guest! In honor of Rare Disease Day, Lainie Jones, @theearlydetective, is back to share her latest cancer updates. At age 41, she is currently battling her 7TH CANCER, (no) thanks to Li-Fraumeni Syndrome. She shares how she stays so positive despite her laundry list of cancers (most recently glioblastoma!) & how early cancer detection continues to save her life. We discuss how to support someone battling cancer, scanxiety, what scares her, & of course, that Super Bowl commercial.You'll laugh, you'll cry, & you'll be inspired.We hope you love this episode as much as we do. Thanks for listening!all the breast,Robyn (Dr. Robyn Roth)follow @theboobiedocs & @ggtobc for more of the BREAST info!

We celebrate Rare Disease Day because we love our Rares! Also, folks from WHF join us to share their comprehensive summit and the gene therapy segment is back with a new host and Dr. Mark Kay and genetic counselor, Kaylee Dollerschell.   Presenting Sponsor: Takeda, visit bleedingdisorders.com to learn more.   Show Notes: Subscribe: The BloodStream Podcast   It's a Whole New World Gene Therapy Segment brought to you by CSL Behring, which now has a first-of-its-kind hemophilia B treatment. Visit BeyondHemB.com or download B SUPPORT wherever you get your apps for more information. Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook  BloodStream on Twitter  

In honor of Rare Disease Day, Meg Escobosa is joined by Kinnari Patel, President, Head of Research & Development, and Chief Operating Officer of Rocket Pharmaceuticals.Meg and Kinnari discuss the significant impact of genetic testing and drivers for finding cures for rare diseases, the demands and rewards that come with spearheading Rocket Pharmaceuticals, and how true passion has solidified her unwavering commitment to creating a positive impact for rare disease patients.Kinnari Patel, PharmD is President, Head of Research & Development and Chief Operating Officer of Rocket Pharmaceuticals, a clinical-stage company seeking gene therapy cures for patients with rare diseases. Kinnari has more than 20 years of pharma experience, including stints at Bristol Meyers Squibb, Novartis, Roche, and Pfizer.Kinnari graduated with a BS in Biology and a Doctor of Pharmacy degree from the University of the Sciences in Philadelphia. She completed an Executive MBA from NYU Stern School of Business and the C-Suite Harvard Business School Advanced Management Program.Outside of Rocket Pharmaceuticals, Dr. Patel is a member of the Alliance for Regenerative Medicine's (ARM) Board of Directors and serves on the Healthcare Businesswomen's Association (HBA) Global Advisory Board.Further Reading: Kinnari Patel's LinkedInRocket PharmaceuticalsRocket Pharmaceuticals' LinkedInNational Organization for Rare Disorders (NORD)Rare Disease DayRady Children's Institute for Genomic MedicineInvitae Unlock™ Immunology ProgramAlliance for Regenerative MedicineHealthcare Businesswomen's AssociationEpisode Credits: The Game-Changing Women of Healthcare is a production of The Krinsky Company. Hosted by Meg Escobosa. Produced by Meg Escobosa, Calvin Marty, Chelsea Ho, Markala Comfort, and Wendy Nielsen.Edited, engineered, and mixed by Calvin Marty. All music composed and performed by Calvin Marty. ©2025 The Krinsky Company

Celebrating Rare Disease Day with double the podcast release today! As we continue to celebrate and honor the day set aside to bring awareness to our incredible families with a rare diagnosis, I want to thank Sky Collins for sharing in our previous release about Oklahoma Rare.  She continues on to share more about the personal diagnostic journey their family experienced as they tried to advocate and find answers for their youngest daughter, Presley. We also thank Presley for allowing her mom to share pieces of her diagnostic journey.  And anyone interested can purchase Presley's book here: https://www.makebelievebookcompany.com/product-page/better-than-a-letter-magical-mailing-kit   #OklahomaRare #MalanSyndrome  #OKRare  #RareDiseaseAwareness  #UltraRareDisease  #EveryLifeFoundation  #PartnersInPolicy  #SB207  #SenatorCarriHicks #RareDiseaseDay #RareDiagnosis  

The first of two deliveries of NASA cargo to the lunar surface is expected this weekend... What this means for America's goal of returning to the moon - and exploring beyond (at 12:18) --- The final day of February is Rare Disease Day... But as it turns out, rare diseases are not necessarily as rare as you might think (at 22:57) --- The Findlay High School basketball season is over... Trojans head coach Ryan Grose reflects on a challenging year (at 31:16) --- Another collection of delicious and easy recipes from Kyra's Kitchen! (at 46:21)

Today is Rare Disease Day. It is held on the last day of February to raise awareness for rare diseases, generate change, and improve access to treatment and medical representation for the 300 million people worldwide living with a rare disease, their families and carers. Communities in Clare are also aiming to raise awareness on Rare Disease Day. To find out more, Alan Morrissey was joined in studio by Kilrush resident with Parry Romberg Syndrome, Cindy O'Brien, Board member & head of advocacy, Anne Micks and Kilrush resident who wrote a poem on Rare Disease Day, Loretta O'Dea O'Callaghan. Photo (C): Clare FM

In honor of Rare Disease Day, we discuss news from Healx, a clinical-stage biotech, which has dosed the first patient in a Phase II trial of its new drug for neurofibromatosis type 1. In the world of AI, the Arc Institute in collaboration with Nvidia has dropped Evo 2, the “largest publicly accessible AI model for biology to date,” for designing genomes. Additionally, new work from Nobel Laureate, David Baker, uses AI to generate enzymes from scratch. We also dig into the big announcements from Illumina and Roche that got the community buzzing ahead of this year's AGBT meeting. Join GEN editors Corinna Singleman, PhD, Alex Philippidis, Fay Lin, PhD, and Uduak Thomas for a discussion of the latest biotech and biopharma news. Listed below are links to the GEN stories referenced in this episode of Touching Base: Healx Candidate, SpringWorks Therapy Expand NF1 Treatment OptionsBy Alex Philippidis, GEN Edge, February 25, 2025 Arc Institute's AI Model Evo 2 Designs the Genetic Code Across All Domains of Life By Fay Lin, PhD, GEN Edge, February 19, 2025 AI-Driven Protein Design Produces Enzyme that Mimics Natural Hydrolase Activity By Corinna Singleman, PhD, GEN, February 13, 2025 Illumina Unveils Spatial Technology Days Before AGBT Meeting By Julianna LeMieux, PhD, GEN, February 19, 2025 StockWatch: Illumina Tumbles on Q4 Results, China Retaliation By Alex Philippidis, GEN Edge, February 8, 2025 Roche Announces SBX Technology, Creates Sequencing Buzz By Julianna LeMieux, PhD, GEN, February 21, 2025 StockWatch: NIH Indirect Cost Cuts Shake Tools Stocks By Alex Philippidis, GEN Edge, February 17, 2025 Hosted on Acast. See acast.com/privacy for more information.

Topic I: Rare Disease Day. Topic II: The Importance of Community for Personal Development Introduction and NEWS Presenter(s): Imam Touqeer Khan Guest(s): Professor Derralynn Hughes Professor Esther McIntosh Mr Mark Tomlinson Producer(s): Bareera Mansoor, Maleeha Abdullah, & Nergis Nasir Researcher(s): Dania Daud, Basma Latif and Fareha Sohail Suri

Welcome to this very special episode of our RARE/D conversations podcast, where we are celebrating Rare Disease Day 2025 and talking all about comedy! In our ‘Rare Comedy' podcast we are joined by guests, Jamie MacDonald, Yvonne Hughes and Jibreel Arshad who talk about their routes into stand-up comedy and their connections to ‘Rare'. This rare disease day, our podcast considers why humour is universally important and the kind of conversations that it can generate. Hosted by Rhona Macleod and Mariangels Ferrer. Available to listen on all popular podcasting platforms from 28th February 2025. 

I'm joined by Christian Henry, CEO of PacBio, a company leading the way in high-accuracy long-read sequencing. We break down what that means in simple terms, how this technology is helping families solve their diagnostic odyssey, and why some genetic tests miss key information that PacBio can detect. Plus, if you've already had whole genome sequencing without finding an answer, Christian explains why it might be time to take another look. We also dive into the future of genetic testing, what needs to change for sequencing to become a routine part of medical care, and how families and advocates can help drive progress forward. This episode is all about hope, science, and the relentless pursuit of answers. Happy Rare Disease Day, and thank you for being part of this incredible community! Topics Covered: ✅ What is long-read sequencing, and how is it different from traditional genetic testing? ✅ How PacBio's technology is solving rare disease mysteries faster and more accurately. ✅ Why some families don't get answers from whole genome sequencing—and why they should consider trying again. ✅ The biggest barriers to making genetic testing more accessible and routine in rare disease care. ✅ How long-read sequencing could help lead to future treatments, not just diagnoses. ✅ What the next five years of genomic sequencing could look like. ✅ How rare disease families and advocacy groups can collaborate with PacBio to accelerate discoveries. Resources & Links:

In this episode, Brain & Life Podcast co-hosts Dr. Daniel Correa and Dr. Katy Peters answers your questions. They explain stiff person syndrome, prosopagnosia (also known as face blindness,) lissencephaly, and how to talk about functional neurologic disorder symptoms to your loved ones and other medical providers.   Additional Resources Celine Dion's Diagnosis Raises Awareness of Stiff Person Syndrome What Is a Functional Neurologic Disorder? What is Prosopagnosia? How Caregivers Deal with Anticipatory Grief FND Courage     We want to hear from you! Have a question or want to hear a topic featured on the Brain & Life Podcast? ·       Record a voicemail at 612-928-6206 ·       Email us at BLpodcast@brainandlife.org Social Media:   Hosts: Dr. Daniel Correa @neurodrcorrea; Dr. Katy Peters @KatyPetersMDPhD

In this episode we are exploring rare and ultra-rare disease in honor of Rare Disease Day on February 28 which raises awareness for the 300 million people worldwide living with a rare disease. We are talking with one author about their study on the role of digital tools in rare disease management and another author about their research into experiences of parents who have a child with an emerging-ultrarare disorder. Segment 1: Exploring the role of digital tools in rare disease management: An interview-based study Andrea Chang works as a Genomic Science Liaison at Quest Diagnostics and earned her MS in Genetic Counseling from UCLA's inaugural genetic counseling class. In this segment we discuss: The role of digital tools in healthcare management for rare diseases Real-world examples of existing digital tools for the rare disease community The impact of rare disease on the global population The healthcare gaps currently not addressed by digital tools Recommended digital tool features Segment 2: The book is just being written: The enduring journey of parents of children with emerging- ultrarare disorders Bethany Stafford-Smith works clinically as a genetic counsellor at University Hospitals of Leicester. She also works for Great Ormond Street Hospital as a Research Genetic Counsellor. In this segment we discuss: The definition of emerging ultra rare disorders or E-URD Experiences of parents with children diagnosed with an E-URD Parents' perceptions on the utility of a diagnosis Challenges faced by parents seeking medical and social support after receiving an E-URD diagnosis for their child How researchers and healthcare providers can support advocacy in E-URDs Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors. Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.  For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.  Any questions, episode ideas, guest pitches, or comments can be sent into DNADialoguesPodcast@gmail.com.  DNA Dialogues' team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and DNA Today's Kira Dineen. Our logo was designed by Ashlyn Enokian. Our current intern is Sydney Arlen.

Every year, on the last day of February, the world comes together to recognize Rare Disease Day—a global initiative dedicated to raising awareness for rare diseases and the millions of people affected by them.   Today, We Saved You A Seat is incredibly honored to share a few things Oklahoma is doing to help bring awareness, advocacy, conversation and support to and for those impacted by a rare diagnosis.   Today, Sky Collins is here to discuss the incredible community group, Oklahoma Rare, of which she is a co-founder and shares ways you can get involved.     Addition Resources Mentioned: https://everylifefoundation.org/rare-advocates/virtual-youth-hill-day/   #OklahomaRare #MalanSyndrome  #OKRare  #RareDiseaseAwareness  #UltraRareDisease  #EveryLifeFoundation  #PartnersInPolicy  #SB207  #SenatorCarriHicks #RareDiseaseDay #RareDiagnosis

This week on The Genetics Podcast, we're celebrating Rare Disease Day with a very special episode. Patrick is joined by clinical nephrologist Anthony Bleyer and geneticist Stan Kmoch to discuss how their decade-long international collaboration has uncovered genetic mutations in families with rare inherited kidney diseases – including Patrick's.Show Notes: 0:00 Intro to The Genetics Podcast00:59 Welcome to Anthony and Stan02:05 The origin story for Anthony and Stan's long-distance collaboration06:55 Stan's background in metabolic disorders and sequencing techniques11:09 Common genetic culprits and barriers to identifying mutations that cause kidney disease14:01 Background and findings from Anthony and Stan's ApoA4 study23:54 Potential therapeutic avenues based on the ApoA4 study26:49 Current and future focuses for characterizing diseases in families30:42 Working with collaborators internationally to access large databases and registries33:05 Innovative transplant methods, including genetically-modified pig kidneys 36:36 Closing remarks and a heartfelt thank you to researchers and families driving rare disease researchFind out more Latest study: https://doi.org/10.1016/j.kint.2023.11.021Please consider rating and reviewing us on your chosen podcast listening platform! https://drive.google.com/file/d/1Bp2_wVNSzntTs_zuoizU8bX1dvao4jfj/view?usp=share_link

Michelle talks about her son Jack, one of the great kids with a rare disease but he just wants to be Nathan Carter! To learn more about rare diseases check out rareireland.ie Hosted on Acast. See acast.com/privacy for more information.

PJ talks to Sharon who says her daughter Kate teaches her and everyone that enjoying life, making friends and giving love are the important things in any life. To learn more about rare diseases check out rareireland.ie Hosted on Acast. See acast.com/privacy for more information.

On today's show:  10am-11am Opposition vows to challenge Government on speaking proposal Connacht Tribune Headlines Tomorrow is Rare Disease Day - we speak to a Galway woman with an incurable, life limiting condition

Invité : Arthur Baucheron, influenceur santé. https://www.linkedin.com/in/arthur-baucheron-6062621a4/?originalSubdomain=fr    https://www.instagram.com/arthurbaucheron/    https://www.tiktok.com/@arthurbaucheron?lang=fr    1️⃣   Qui est Arthur Baucheron ? [0'56 – 2'15] ✔️ Arthur, 22 ans, atteint d'amyotrophie spinale de type 2, en fauteuil roulant. ✔️ Actif sur les réseaux depuis 2020 (80 000 abonnés sur Instagram, 800 000 sur TikTok), il partage son quotidien et lutte contre les préjugés sur le handicap. 2️⃣   Pourquoi témoigner au micro de RARE à l'écoute aujourd'hui ? [2'15 – 4'18] ✔️ Podcast de référence dans les maladies rares, qui s'adresse aux professionnels de santé et au grand public concerné. ✔️ Sensibiliser, partager son expérience avec les professionnels de santé et le grand public, aider ceux qui se reconnaissent dans son parcours. 3️⃣   Quel est son parcours d'influenceur santé ? [4'19 –6'46] ✔️ Pendant le confinement, Arthur a partagé son quotidien en fauteuil roulant, et une de ses vidéos a rapidement rencontré un grand succès. ✔️ En répondant à des questions sur sa vie, il a vu son audience augmenter, réalisant l'intérêt pour la représentation des personnes handicapées sur les réseaux sociaux. 4️⃣   Comment Arthur vit-il son rôle et gère-t-il sa responsabilité envers sa communauté ? [6'46 – 7'57] ✔️ Arthur reçoit des messages de soutien, notamment de jeunes et de parents, qui lui confient qu'il a changé leur perception du handicap. ✔️ Il prend son rôle d'influenceur santé à cœur, en rassurant, inspirant et éduquant sa communauté. 5️⃣   Quel message pour les auditeurs RARE à l'écoute ? [7'58– 9'07] ✔️ Ne jamais s'apitoyer sur son sort et de profiter de la vie à 100%. ✔️ Le handicap est une opportunité pour surmonter les défis et inspirer les autres à en faire de même   L'équipe : Virginie Druenne – Ambassadrice RARE à l'écoute Cyril Cassard – Journaliste/Animation Hervé Guillot - Production Crédits : Sonacom ****************************************** À propos : "RARE à l'écoute" est un podcast dédié à la sensibilisation aux maladies rares et au soutien des personnes touchées par ces affections. Créé par un groupe passionné de professionnels de la santé, le podcast vise à informer les professionnels de santé et fournissant des informations sur les dernières avancées médicales et scientifiques dans le domaine des maladies rares, et inspirer les patients et leurs proches en partageant des histoires de courage et de persévérance. Contenu :

Rare Disease Day takes place on the last day of February every year. More than 30 million people in the United States are affected by over 7,000 rare diseases. Acute hepatic porphyria (AHP) is one of these rare diseases and carries with it a substantial disease burden. Delayed diagnosis, misdiagnosis and missed diagnosis frequently occur in the journey of the person living with AHP, with the average time from symptom onset to diagnosis being 15 years. On today's episode, nurse practitioners (NPs) Drs. Laurie Connors and Paula Tucker discuss the clinical presentation and symptoms that are associated with AHP as well as management, attack prevention and treatment strategies. NPs are important members of the collaborative care team for people living with this condition and their families. A participation code will be provided at the end of the podcast — make sure to write this code down. One you have listened to the podcast and have the participation code, return to this activity in the CE Center. Click on the "Next Steps" button of the activity and Enter the participation code that was provided. Complete the post-test . Complete the activity evaluation. This will award your CE credit and certificate of completion. 0.75 CE, 0.25 RX, will be available through Feb. 28 , 2026.   This activity is supported by an independent educational grant from Alnylam.

Rare condition research is evolving, and patient communities are driving the breakthrough. In this special Rare Disease Day episode, we explore the challenges and opportunities shaping the future of rare condition therapies. From groundbreaking gene therapy trials to the power of patient-driven research, our guests discuss how collaboration between families, clinicians, researchers, and regulators is paving the way for faster diagnoses, equitable access to treatments, and innovative approaches like nucleic acid therapies and CRISPR gene editing. With insights from Myotubular Trust, we follow the journey of family-led patient communities and their impact on advancing gene therapy for myotubular myopathy - showcasing how lived experience is shaping the future of medicine. However, while patient-driven initiatives have led to incredible progress, not every family has the time, resources, or networks to lead these research efforts. Our guests discuss initiatives like the UK Platform for Nucleic Acid Therapies (UPNAT), which aims to streamline the development of innovative treatments and ensure equitable access for everyone impacted by rare conditions. Our host Dr Ana Lisa Tavares, Clinical lead for rare disease at Genomics England, is joined by Meriel McEntagart, Clinical lead for rare disease technologies at Genomics England, Anne Lennox, Founder and CEO of Myotubular Trust and Dr Carlo Rinaldi, Professor of Molecular and Translational Neuroscience at University of Oxford. "My dream is in 5 to 10 years time, an individual with a rare disease is identified in the clinic, perhaps even before symptoms have manifested. And at that exact time, the day of the diagnosis becomes also a day of hope, in a way, where immediately the researcher that sent the genetics lab flags that specific variant or specific mutations. We know exactly which is the best genetic therapy to go after." You can download the transcript, or read it below. Ana Lisa: Welcome to Behind the Genes.    [Music plays]  Anne: What we've understood is that the knowledge and experience of families and patients is even more vital than we've all been going on about for a long time. Because the issue of there being a liver complication in myotubular myopathy has been hiding in plain sight all this time, because if you asked any family, they would tell you, “Yes, my son has had the odd liver result.”  There were some very serious liver complications but everybody thought that was a minor issue, but if we are able to engage the people who live with the disease and the people who observe the disease at a much more fundamental level we may be able to see more about what these rare genes are doing.  [Music plays]  Ana Lisa: My name is Ana Lisa Tavares, I'm Clinical Lead for Rare Disease research at Genomics England and your host for this episode of Behind the Genes. Today I'm joined by Anne Lennox, Founder and CEO of the Myotubular Trust, Dr Meriel McEntagart, an NHS consultant and Clinical Lead for Rare Disease Technologies at Genomics England, and Dr Carlo Rinaldi, Professor of Molecular and Translational Neuroscience at the University of Oxford.    Today we'll be hearing about the importance of involving the patient community, particularly as new rare therapies are developed, and discussing the forward-facing work that's happening that could have potential to unlock novel treatments for many rare conditions.  If you enjoy today's episode we'd love your support. Please like, share and rate us on wherever you listen to your podcasts. Thank you so much for joining me today.  Please could you introduce yourselves.   Anne: I'm Anne Lennox, I'm one of the founders of the Myotubular Trust, a charity that raises research funds for and supports families affected by the rare genetic neuromuscular disorder myotubular myopathy.  Meriel: I'm Meriel McEntagart, I'm a consultant in clinical genetics in the NHS and I have a special interest in neurogenic and neuromuscular conditions.  Carlo: Hi, I'm Carlo Rinaldi, I'm Professor of Molecular and Translational Neuroscience at the University of Oxford. I'm a clinician scientist juggling my time between the clinic and the lab where we try to understand mechanisms of diseases to develop treatments for these conditions.  And I'm also here as a representative of the UK Platform for Nucleic Acid Therapies, UPNAT. Thanks for your invitation, I'm very pleased to be here.  Ana Lisa: Thank you. Meriel, I'd love you to tell us a bit about your work and how you met Anne, how did this story start?  Meriel: Thank you. Well prior to being a consultant in clinical genetics, I spent 2 years as a clinical research fellow in neuromuscular conditions, and as part of that training I worked on a project where the gene for myotubular myopathy had just been identified, and so there was a big international effort to try and come up with sort of a registry of all the genetic variants that had been found as well as all the clinical symptoms that the affected patients had, and then do kind of a correlation of the particular variant mutation with symptoms.   I worked when I was training to be a clinical geneticist because of my interest in neuromuscular conditions so when I eventually became a consultant at St George's Hospital I was actually interviewed by the Professor of Paediatrics and he knew Anne and her son, when Anne was looking for more information about the condition he suggested that perhaps I might be a good person for Anne to talk to.  Ana Lisa: Thank you. Interesting connections. Anne, can you tell us your story and how this led you to found the Myotubular Trust?  Anne: Yes, thanks Ana-Lisa.  Well, as many families will tell you when they're newly diagnosed with a rare disease, you go from knowing nothing about a condition to being one of the few deep experts in that condition because there are so few deep experts. So this happened to us in 2003 when our son, Tom, was born, and when he was born he was floppy and his Apgar scores, the scores they do on new-born babies, were pretty poor, and before long we knew that it was more than just momentary issues at birth.  And, cutting a very long story short, 5 weeks later he was diagnosed with this very rare neuromuscular genetic disorder that we didn't know we had in the family.  We were told that this was a very serious diagnosis.    At that time – more than 20 years ago – over 80% of those boys didn't make it to their first birthday and the stark statistic we had in our head a lot was that only 1% made it past the age of 10. And that has changed due to better ventilator and breathing equipment, etc, but at the time we expected that he might not make it to his first birthday.    We were very lucky, we had Tom longer than one year, we had him for nearly 4 years, 4 very lovely years where it was tough, but he was a really lovely member of our family.  Despite being really weak he managed to be incredibly cheeky and bossy, and he was a great little brother for his big sister. We were also very lucky that he was being looked after by Professor Francesco Muntoni, who is Head of the Paediatric Neuromuscular Service at Great Ormond Street. And, like Carlo, he is a clinical researcher and actually that I found to be amazing as a family member because you knew what was happening out there and Professor Muntoni, other than living with the reality day to day you want to know where things are going.    We began to realise that back then 20 years ago the more common rare neuromuscular diseases were finally beginning to get some fundamental research funds, like Duchenne, spinal muscular atrophy, and Professor Muntoni was very good at explaining to lay non-scientific parents like us that one day the technologies that would lead to a cure, that would re-engage proteins for other conditions and would translate down eventually into the possibility of replacing myotubularin, which is the protein not being produced or not being produced enough in myotubular myopathy. And then we began to understand actually what the barriers to that would be, that translating developments in more common, or let's say more prevalent conditions, would be hard to do without some translation research being done; you could not just not lag years behind, you could lag decades behind if you haven't done some other work.    So, I met Wendy Hughes, another mother, of a boy called Zak who was a few years older than Tom, and these were the days before social media, and it was amazing to be in contact with another family going through something similar and we had great conversations. But then they were also looked after by Professor Muntoni and we particularly began to develop the idea as 2 families that we might be able to raise some research funds towards this concept of keeping pace with the scientific developments.  And then we discovered there was no charity we could channel those funds through. Even the umbrella body for neuromuscular diseases who were covering 30 to 40 conditions, frankly, they just couldn't trickle their funding down into investing in every neuromuscular disease, and slowly but surely it dawned on us that if we did want to make that difference we were going to have to set up our own charity.   So that's what we eventually did and back in 2006, we founded what was actually the first charity in Europe dedicated to myotubular myopathy – luckily, more have come along since – and we were dedicated to raising research funding. In fact, it wasn't our goal to set up another charity but around that time, about a year in, we happened to go to a meeting where the Head of the MRC, the Medical Research Council, was giving a talk and he said that in the last few years the MRC had begun to really realise that they couldn't cure everything, that they couldn't cure the diseases that would be cured in the next millennium from a top down perspective. There had to be a trick, there had to be a bottom up as well, because that was the only way this was going to happen. And I have to say that that was a really reassuring moment in time for us to realise that we weren't just chasing pipe dreams and trying to do something impossible, that there was a role for us.    Ana Lisa: I think it would be really interesting for people to hear your story and the amazing set-up and fundraising that you've done, and at the same time it would be really good for us to reflect on how this isn't feasible for every patient and every family and how we're going to need to work cooperatively to move forwards with rare therapies.  Anne: When we explored the idea with Professor Muntoni and Meriel and others about setting up a charity one of the really reassuring things that Professor Muntoni got across to us was that this wasn't about raising the millions and millions it would take to fund clinical trials but the issue in the rare disease space was funding the proof of principle work, the work where you take a scientist's hypothesis and take it over the line, and the rarer the disease, the less places there are for a scientist to take those ideas. And the example he gave us was a piece of research like that might cost a hundred to a couple of hundred thousand, if you fund a piece of work like that and if it is successful, if the scientist's principle gets proven, then behind you it's much easier for the bigger muscle disease charities to also invest in it. It's harder for them to spread their money across all the very rare diseases hypothesis out there, but if you've helped a scientist get over the line they'll come in behind you and then they won't be the ones who fund the tens of millions that it takes to run a clinical trial.    If it's got potential, then that's where the commercial world comes in, and that's where the biotechs come in. So he'd given the example of if you spent £ten0,000 on a piece of research and it actually is proven, in behind you will come the bigger charities that would put in the million that takes it to the next phase, and in behind them will come the bio-checks that'll provide biotechs that'll provide the tens of millions.    And then, you know, a lot of what happens relies on serendipity as well, we know that, and you could easily run away with the idea that you made everything happen but you don't, you stand on the shoulders of others. And our very first grant application in our first grant round, which received extraordinary peer review for how excellent the application was, was a £100,000 project for a 3-year project that had gene therapy at the core of it by a researcher called Dr Ana Buj Bello at Généthon in Paris. This piece of research was so promising that 18 months in she and another researcher were able to raise $780,000 and, as Professor Muntoni predicted, from the French muscle disease charity AFM and the American muscle diseases charity MDA.  And 18 months into that 3 years it was so promising that a biotech company was started up with $30 million funding, literally just on her work.    So that doesn't always happen but, as Professor Muntoni explained, our job was not that $30 million, our job was that first £100,000, and our job was also to make ourselves known to the people in the neuromuscular field.  If you have lab time, if you have research time and you have a choice where you're putting it there is a place you can go to for a myotubular myopathy related grant application, so it's not just that this will come to us out of the blue, people will have done prior work, and our existence makes it worth their while, hopefully, to have done that prior work.  Ana Lisa: That's an amazing story how you've set up this charity and how successful that first application for gene therapy was. I'd love to hear more about that gene therapy and did it get to the clinic and to hear that story from you.  Because I think there are a lot of learnings and it's really important that the first patients who are treated, the first families that are involved, the researchers who start researching in this area, the first treatments lead the way and we learn for all the other treatments for all the other rare conditions that we hope and that together as a community we can share these learnings.  Anne: Yeah. I sometimes describe it a bit like going out into space. When you see a rocket going off look at how many people are behind and the amount of work that's been done, the degree of detail that's managed, and then you go out into space and there are a whole load of unknowns, and you can't account for all of them.  Who knows what's out there in this sphere.  But the amount of preparation, it feels similar to me now, looking back.  We were so idealistic at the beginning.  Our grant to Dr Buj Bello was 2008 and actually it is a really fast time in, the first child was dosed in the gene therapy trial in September 2017.  Ana Lisa: So, we're talking less than 1 years.  Anne: Yeah. And in the meantime obviously as a charity we're also funding other proof of principle research. One of the founding principles of the charity was to have a really excellent peer review process and scientific advisory board so that we wouldn't get carried away with excitement about one lab, one research team, that everything would always come back to peer review and would be looked at coldly, objectively. I don't know how many times I've sat in a scientific advisory board meeting with my fingers crossed hoping that a certain application would get through because it looked wonderful to me, and then the peer review comes back and there are things you just don't know as a patient organisation. So, yes, in those 9 years we were also funding other work.  Ana Lisa: You've just given an interesting perspective on sharing the learnings between the scientists, clinicians, the experts in a particular condition, if you like, and the families, and I'd be really interested to hear your views on what's been learnt about how families and the patient community can also teach the clinical and scientific community.  Anne: So, the first child was dosed in September 2017 and by the World Muscle Society Conference 2 years later in October 2019 the biotech had some fantastic results to show. Children who had been 24-hour ventilated were now ventilator-free, which, unless you know what it's like to have somebody in front of you who's ventilator-dependent, the idea that they could become ventilator-free is just extraordinary.    However, one of the things we've learnt about gene therapy is that we are going out into space so there are extraordinary things to be found, and extraordinary results are possible, as is evidenced here, but there is so much that we don't know once we are dealing with gene therapy. So unfortunately, in May, June and August of 2020, 3 little boys died on the clinical trial. So we have a clinical trial where the most extraordinary results are possible, and the worst results are possible, and both of those things are down to the gene…  What we discovered and what is still being uncovered and discovered is that myotubular myopathy is not just a neuromuscular disorder, it is a disorder of the liver too, and these children didn't die of an immune response, which is what everybody assumes is going to happen in these trials, they died of liver complications.    And one of the things that has come out of that, well, 2 sides to that. Number one is that it is extraordinary that we have found a treatment that makes every single muscle cell in the body pick up the protein that was missing and produce that protein, but also what we've understood is that the knowledge and experience of families and patients is even more vital than we've all been going on about for a long time. Because the issue of there being a liver complication in myotubular myopathy has been hiding in plain sight all this time, because if you asked any family they would tell you, “Yes, my son has had the odd liver result, yes.”    We could see something that looked like it was not that relevant because it was outside the big picture of the disease, which was about breathing and walking and muscles, but actually there was this thing going on at the same time where the children had liver complications. There were some very serious liver complications but everybody thought that was a minor issue but if we are able to engage the people who live with the disease and the people who observe the disease at a much more fundamental level we may be able to see more about what these rare genes are doing.  Ana Lisa: Yeah, thank you very much for sharing such a moving story and with such powerful lessons for the whole community about how we listen to the expertise that families have about their condition, and also I think the really important point about how we tackle the research funding so that we're including and sharing learnings from the conditions that are initially studied in greater depth, and we hope that many more conditions will be better understood and more treatments found and that actually the learnings from these first gene therapy trials will really help inform future trials, not just for gene therapies but also for many other novel therapies that are being developed.  [Music plays] If you're enjoying what you've heard today, and you'd like to hear some more great tales from the genomics coalface, why don't you join us on The Road to Genome podcast. Where our host Helen Bethel, chats to the professionals, experts and patients involved in genomics today. In our new series, Helen talks to a fantastic array of guests, including the rapping consultant, clinical geneticist, Professor Julian Barwell, about Fragile X syndrome, cancer genomics and a holistic approach to his practice - a genuine mic-drop of an interview. The Road to Genome is available wherever you get your podcasts. [Music plays] Ana Lisa: Carlo, I would really like to come to you about some of the initiatives that are happening in the UK, and particularly it would be really interesting to hear about the UK Platform for Nucleic Acid Therapies as a sort of shining example of trying to do something at a national scale across potentially many different rare conditions.    Carlo: Thanks, Ana-Lisa. Thanks very much, Anne, for sharing your fantastic story. I mean, I just want to iterate that as clinician scientists we do constantly learn from experiences and constantly learn from you, from the patient community, and this is absolutely valuable to push the boundary. And I really liked your vision of a rocket being launched in space and I would imagine that this is a similar situation here. So, we are facing a major challenge. So, there is over 7,000 rare diseases in the world and with improvements of genetic diagnosis this is only increasing. So, in a way rare diseases is the ultimate frontier of personalised medicine and this poses incredible challenges.   So, you mentioned the bottom-up approach and the top-down approach and in a way, both are absolutely necessary. So your story is a fantastic story but also makes me think of all the other families where they don't share perhaps the same spirit, you know, they are in areas of the world that are not as well connected or informed, where patient community simply cannot be ‘nucleated', let's say, around the family. So, there is definitely an issue of inclusivity and fair access.    So, what we're trying to do at UPNAT, which is the UK Platform for Nucleic Acid Therapy, is to try to streamline the development both at preclinical and clinical level of nucleic acid therapies. So, we'll start with antisense oligonucleotides just because those are the molecules of the class of drugs that are most ‘mature', let's say, in clinic. So, there are several antisense oligonucleotides already approved in the clinic, we know that they are reasonably safe, we understand them quite well, but of course the aspiration is to then progress into other forms of gene therapy, including gene editing approaches, for example.   And one of the activities that I'm involved, together with Professor Muntoni, is to try to streamline the regulatory process of such therapies and in particular curate a registry of, for example, side effects associated with nucleic acid therapy in the real world, and you would be surprised that this is something that is not yet available.  And the point is exactly that, it's trying to understand and learn from previous mistakes perhaps or previous experiences more in general.    And this is very much in synergy with other activities in the UK in the rare disease domain.  I'm thinking of the Rare Disease Therapy Launchpad, I'm thinking of the Oxford Harrington Centre, I am thinking of the recently funded MRC CoRE in Therapeutic Genomics. These are all very synergistic. Our point is we want to try to amplify the voice of the patient, the voice of the clinicians working on rare disease, and we want to systematise. Because of course one of the risks of rare disease therapies is the fragmentation that we do all these things in isolation. And I would argue that the UK at the moment leveraging on the relatively flexible and independent regulatory agencies, such as the MHRA, on the enormous amount of genetics data available through Genomics England, and of course the centralised healthcare system, such as the NHS, is really probably the best place in the world to do research in the rare disease area, and probably I'm allowed to say it because I'm a non-UK native.       Ana Lisa: Thank you, that's a brilliant perspective, Carlo, and across all the different therapeutic initiatives that you're involved with. And, Carlo, presumably - we're all hoping - these different initiatives will actually lead to ultimately a bigger scaling as more and more novel therapies that target both our RNA and DNA and actually are working, I guess further upstream in the pathway.    So classically in the past it's been necessary to work out all the underlying biology, find a druggable target somewhere in that pathway and then get a larger enough clinical trial, which can be nearly impossible with many of the rare and ultra-rare conditions or even, as you've said, the sub-setting down of more common condition into rarer subtypes that perhaps can be treated in different ways.  And with the many new different treatments on the horizon, ASO therapies, as you've said, is a place that's rapidly expanding, and also crisper gene editing. I'd be really interested to hear your reflections on how this might scale and also how it might extend to other new treatments.  Carlo: Yeah, that's exactly the right word, ‘scaling up'. I mean, there will be of course very unique challenges to every single rare disease but I would argue that with genetic therapies, such as ASOs or crisper gene editing, the amount of functional work that you need to do in a lab to prove yourself and the scientific community that this is the right approach to go for can be certainly very important but can be less just because you're addressing very directly because of the disease.    And then there are commonalities to all these approaches and possibly, you know, a platform approach type of regulatory approval might serve in that regard. You know, if you are using the same chemistry of these antisense oligonucleotides and, you know, similar doses, in a way the amount of work that you need to produce to again make sure that the approach is indeed a safe approach and an effective approach might be also reduced.    I would say that there are also challenges on other aspects of course, as you were saying, Ana-Lisa. Certainly the typical or standard randomised placebo control trial that is the standard and ultimate trial that we use in a clinical setting to prove that a molecule is better than a placebo is many times in the context of rare diseases simply not possible, so we need to think of other ways to prove that a drug is safe and is effective.   This is something that we all collectively as a scientific community are trying to address, and the alliance with the regulatory agencies, such as the MHRA, and you said that you have found your interaction with the MHRA very positive, and I can tell you exactly the same. So we are all trying to go for the same goal, effectively, so trying to find a way to systematise, platformise these sort of approaches. And I guess starting with antisense oligonucleotides is really the right place to go because it's a class of drugs that we have known for a long time, and we know it can work.  Ana Lisa: Meriel, can you tell us a little about the National Genomic Research Library at Genomics England and how this could link with initiatives to find many more patients as new treatments become available for rare and ultra-rare conditions?  Meriel: Yes, I think what's wonderful now is actually that what we're really trying to do is give everybody the opportunity to have their rare condition specifically diagnosed at the molecular level, and the way in which that is being done is by offering whole genome sequencing in the NHS currently in England but to all patients with rare diseases.    And so, it's about trying to establish their diagnosis. And as well as that, even if the diagnosis isn't definitely made at the first pass when the clinical scientists look at the data, because the whole genome has been sequenced, actually all that information about their genome, if they consent, can then be put into the National Genomics Research Library.  And that is a fantastic resource for national and international researchers who get approved to work in this trusted research environment to make new disease gene discoveries and identify these diagnoses for patients.  What's also offered by Genomics England as well is when the National Genomics Library data results in a new publication, the discovery of a new gene or perhaps a new molecular mechanism that causes a disease we already know about, that feeds back into the diagnostic discovery pathway within Genomics England back onto the diagnostic side of all the data.    So, patients who may have had genetic testing previously using whole genome sequencing where they've, if you like, had their sequencing done before the diagnosis was sort of known about, will also be picked up. And so, what this is really doing is trying to kind of give this really equal platform for everybody having testing to all have the same opportunity to have their diagnosis made, either on the diagnostic side or with research.  Ana Lisa: So, sort of on a cohort-wide scale as new discoveries are made and published you can go back and find those patients that may actually have that diagnosis and get it back to them, which is brilliant.  Meriel: Exactly. And this speeds up the whole process of getting these diagnoses back to people. So on a regular basis in the NHS, we will get feedback from the Diagnostic Discovery Pathway about “Here's some patients who you requested whole genome sequencing from a number of years ago and actually now we think we know what the particular molecular condition is.”  And so, it's key of course for our patients with rare conditions to make that molecular diagnosis because then we're able to have them identified for our colleagues who are doing this ground-breaking research trying to bring therapies for these rare conditions.  Ana Lisa: Thank you. And I hope that, as currently, if a novel genetic mechanism, as you've just described, is identified that could explain a rare condition that those patients can be found and they can receive that diagnosis, even many years later, and hopefully as novel treatments become available and say there's a chance to individualise ASO therapies, for example, to start with, that one could also go and look for patients with particular variants that could be amenable potentially to that treatment. And that's really sort of exciting that one could look for those patients across England, irrespective of which clinic they're under, which specialist they're under, and I think that could be really powerful as new treatments develop. I suppose, Meriel, if somebody comes to see you now in clinic are things different?  Meriel: Well, I think one of the things for me when patients come to clinic now is we might have an idea about what we think their condition is, maybe even we think it's a specific gene. And we can offer whole genome sequencing and so it's not just the way we used to do things before by looking just at the coding regions of the gene, we can find more unusual ways in which the gene can be perturbed using whole genome sequencing.  But let's say we don't make the diagnosis. I encourage my patients, if they're comfortable with it, to join the National Genomics Research Library, because really it's been incredibly productive seeing the new genetic discoveries that are coming out of that, but as well I say to them, even if we don't get the diagnosis the first time round when we look at the data, actually this is a constant cycle of relooking at their data, either if they're in the NGRL or as well on the Diagnostic Discovery Pathway side of the service that's run by Genomics England. So yeah, I feel like it's a very big difference; they don't have to keep coming every year and saying, “Is there a new test?” because actually they've had an excellent test, it's just developing our skills to really analyse it well.  Ana Lisa: Yes, and our knowledge, the technology and the skills keep evolving, certainly.  And I think one of the things that I'm sort of hearing from this conversation is that balance of hope and realism, Carlo we were talking about earlier how you need all the pieces of the puzzle to be lined up - so the regulatory agency, the clinicians, all the preclinical work has to have been done, monitoring afterwards for side effects - every piece of the puzzle has to be lined up for a new treatment to make it to a patient.    And, Anne, I'd like to come back to you because we've talked about this before, how one balances these messages of optimism and hope which are needed for bringing everybody together as a community to crack some of these very difficult challenges highlighted by treatments for rare and ultra-rare conditions and at the same time the need for realism, a balance conversation.  Anne: Yeah, that was one of our big learnings through the gene therapy trial and other trials we've had in the condition. As a rare disease charity, you do everything. You know, my title is CEO, but I tell people that's Chief Everything Officer because there's only a few of you and you do everything. So, you go and you lead the London Hope Walk and you also are a layperson on the Scientific Advisory Board and you also send out the emails about grants... And so, you could easily as a small rare disease charity conflate different communication messages because you're in a certain mode.  And so we have been from the early days in the mode of raising hope for people to say, “Look, we can make a difference as a patient community, we could raise funds, we might be able to move things forward, you've got the power to make a difference if you want to.” That's one set of hope.  And it's not dreamlike hope, we're linked to the reality of there are great breakthroughs.  So, you know, in the world of spinal muscular atrophy these clinical trials have led somewhere very quickly, so we're not selling false hope, we're talking about the difference we can make.    But then as soon as you flip into “There's a clinical trial being run” that's a completely different type of communication and you cannot conflate that message with the previous message.  And we always say to everybody, “We're your team, we're a family, we're a team, we all help each other.  When you are considering joining a clinical trial your team is the clinical trial team.    The other team does other things for you but the people you need to work with and ask hard questions of and listen hard to, that's your clinical trial team led by the principal investigator because then you're in that with them. And, you know, the reality of the fact that many, many clinical trials don't work as we wish they would be and the decision you make for your child, your baby, your little one, to join a clinical trial… because that's what it comes down to in our disease, has to be made with that team, not the team that's selling you a fundraising event. It's worth reminding rare disease patient organisations we're wearing different hats and the hope and the realism are different tracks you have to go down.    But at the same time as being realistic you also have to keep remembering that there is still grounds for hope, we are moving forward. And 21 years ago, when Tom was born the idea that you would be able to get all of the muscles in the body to switch back on – putting it in lay terms – seemed like a bit dream. Well, that is what has happened in the gene therapy clinical trial, we just have to now make it safer and understand more about what we're dealing with. So, the 2 things, the hope and the realism, do exist side by side.  Ana Lisa: I think that perfectly encapsulates a lot of the messages around rare disease therapies where there's such hope that novel treatments will really target directly the DNA or RNA to potentially correct the problem across many different rare conditions and therefore actually making treatments one day suddenly available to a much, much bigger population of people with rare conditions than we could've dreamt of 20 years ago or perhaps now, and at the same time this massive need to work cooperatively to all make this as fair, as equitable. Not everybody is going to have the opportunity to fundraise massively to be an expert about their condition, and the importance of sharing these learnings and also really, really listening to the patient community and really, as Carlo was saying, keeping track of side effects, having registries/databases to share these is going to be incredibly important.  [Music plays]  Ana Lisa:  Anne, can you tell us a little about your reflections on equity from the patient community perspective?  Anne: Well I mentioned serendipity early and one of the aspects of serendipity that played into our favour for setting up the Myotubular Trust was that by hook or by crook Wendy Hughes, who set up the charity with me, and I were both able to devote time at that period of our lives to setting up a charity. When my husband, Andrew, and I were told that Tom would more than likely die before his first birthday, one of the decisions we made as a family was that he would never not be with a parent, we would always have someone around, and that kind of meant someone had to give up a full-time job and that was me.  We thought, “If Tom has a few scarce months on the planet, we'll be with him.” And then when Tom lived to be nearly 4, as a family we got used to living on one salary and we were very lucky that we could pay the mortgage that way and run our family that way and eventually that meant I had the time to run the charity.    That doesn't happen that easily, that's a tall order, particularly when you have somebody in the family who has such high needs. And one of the things that I have often thought about is that in the rare disease space we could do with a different funding model for rare disease charities, we could, in an ideal world I have this nirvana that I imagine where there's a fund that you can apply to that is contributed to by the people who make profits out of finding rare disease cures - so the pharmaceutical companies and the biotechs - and there's a fund that they contribute to and that if you have a rare disease and you are willing to set up an organisation that supports families, that raises research funds, that provides a way of hearing the patient voice, then you could apply to that for running cost funds and then you'd be able to run this charity. And then you wouldn't have to rely on whether you live in an area where people will raise money for you or…  We were very lucky that we came across a few great benefactors who would give us money for running the charity, which is actually how we fund it.    All the research money we raise goes 100% into research, not a penny of it goes towards running costs because we have serendipitously found people who will be benefactors for the charity, but we're relying on a lot of good luck for that kind of model to work. And when you look at how much profit is made from developing rare disease treatments and cures – which is fine because that's what puts the passion and that gets people working on it – then why not have an advance fund to run rare disease charities? One of my nirvana dreams.  Ana Lisa: It's good to dream. Indeed, my hope is that there will be some amazing shining examples that lead the way that open doors, make things possible, prove that something can work and how and that then that will enable many other treatments for many additional rare conditions to be added in so that if you've learnt how this particular treatment modality works for this rare condition and there was funding behind it and everything else that's needed that then you can, the learning from that, I'm going to use the word ‘tweak', which sounds minor and could be very major but actually the concept that you can then tweak all those learnings and findings so that that same type of treatment modality could be adapted to treat somebody else with a different rare condition in a different location would be absolutely incredible and really powerful, given that if something like 85% of rare conditions affect less than one in a million people it's not going to be feasible to use the same strategies that have been used in the past for very common conditions.    One of the other big barriers is the cost of developing treatment for ultra-rare conditions.  Where it's a small number of patients that you have and therefore all the challenges that come with monitoring, checking for efficacy, monitoring safety and ultimately funding the challenges are much greater, however if some of these treatment modalities are also going to be used to treat common conditions it might be that actually there's a lot more cross-talk between the nano-rare, ultra-rare, rare and common conditions and that we can share a lot of that learning. I'd love to hear from each of you where you hope we will be for rare disease and rare therapies.  Carlo: Well my dream is that in 5 to 10 years' time an individual with a rare disease is identified in the clinic, perhaps even before symptoms have manifested, and at that exact time the day of the diagnosis becomes also a day of hope in a way where immediately the researcher, the centre, genetics lab, flags that there are the specific mutations, we know exactly which is the best genetic therapy to go after, antisense oligonucleotides as opposed to CRISPR editing, and a path forward, both at the preclinical and clinical level, to demonstrate and to cure these patients eventually is already laid out in front of the patient.  So, transforming the day of their diagnosis as a day of hope, this is my dream with the next ten years.  Ana Lisa: Thank you, that's a wonderful dream. Meriel, can I come to you?  Meriel: Yes, I think I just want to echo Carlo.  We've had great developments and progress with getting whole genome sequencing into the NHS for testing but what we really need is for it to be fast and efficient and getting those diagnoses established quickly. And we have had that set up now and we're really getting there in terms of speed, but then what we need is exactly what's the next step and actually structure like UPNAT that are developing these processes that we can then say to the patient, “And from there, now that we've established your diagnosis, this is what we have options to offer.”  Ana Lisa: Brilliant. And presumably that if the diagnosis isn't achieved now there is a hope that it will be achieved in the future as well. Anne...  Anne: Well, stepping one hundred per cent into the patient's shoes rather than the scientific side that we don't so much influence....  stepping in the patient's shoes, in 5 years' time I would absolutely love it if we were in a situation where all the parties that have come to the table looking at a therapy or in the earlier research genuinely want to bring the patient voice into the room. As Carlo talked about, there's even going to be more and more and more of these rare diseases, then those voices, those few people who have experience of it, they may be able to shed light on something. Maybe even sometimes don't even know it's a fact that they know but that were brought to the table as passionately as everything else is brought to the table.  [Music plays]  Ana Lisa: We'll wrap up there. Thank you so much to our guests, Anne Lennox, Carlo Rinaldi and Meriel McEntagart, for joining me today as we discuss the collaborative power of working together and look to the future of rare therapies that could have the potential to unlock treatments for many rare conditions. If you'd like to hear more like this, please subscribe to Behind the Genes on your favourite podcast app.  Thank you for listening.  I've been your host, Ana-Lisa Tavares. This podcast was edited by Bill Griffin at Ventoux Digital and produced by Naimah Callachand.  

In this episode of Unlocked, Skot Waldron and Pam Cusick discuss the significance of Rare Disease Day, the importance of connecting patients with research opportunities, and the role of Rare Patient Voice in advocating for those with rare diseases. They explore how patients can engage in research, share their experiences, and contribute to the development of treatments and services that can improve their lives. The conversation emphasizes the need for awareness and education about rare diseases and encourages listeners to take action on Rare Disease Day. Website: rarepatientvoice.com

Manchmal kommt alles anders als geplant. So war es auch bei Karina Kleinert. Ihre Tochter kam mit mehreren Diagnosen zur Welt – darunter eine beidseitige Taubheit. Für Karina brach eine Welt zusammen: „Ich konnte mir weder für sie noch für uns ein gutes Leben vorstellen.“ Als dann noch die Diagnose des seltenen Gendefekts Mikrodeletionssyndrom 13q hinzukam, fühlte sie sich überfordert und in tiefer Trauer gefangen. Doch anstatt im Schmerz zu verharren, traf Karina eine Entscheidung: „Ich mache jetzt das Allerbeste aus unserem Leben, so dass es einfach geil wird.“ Sie holte sich Hilfe, legte alte Glaubenssätze ab und begab sich auf eine Reise der Heilung, die ihr zu neuer Kraft verhalf. Wie sie den „Opfermodus“ hinter sich gelassen hat und heute gemeinsam mit ihrem Mann ihr Leben nach ihren eigenen Regeln gestaltet, darum geht es in dieser Podcast-Folge.

What happens when a determined spirit meets a daunting diagnosis? Join us as we hear from Jewel Dukes, who courageously shares her battle with Cushing's disease. Discover the emotional rollercoaster she faced, from the challenges of weight gain, depression, and anxiety to the life-changing brain surgery to remove a tumor from her pituitary gland. Jewel's story is not just about enduring a rare disease; it's about the powerful connection and hope she found within a community that supports and uplifts her.The path to finding support after a rare disease diagnosis is seldom straightforward. In our conversation, we explore Jewel's journey to connect with those who truly understand her struggles, especially on platforms like Facebook. We dive into the dual challenges of Cushing's disease and Lipoedema, shedding light on the pain and limited treatment options due to insurance obstacles. Jewel shares her wisdom on creating a practical toolkit for symptom management and the necessity of self-care, even when life seems overwhelming.As we discuss holistic wellness, the episode also highlights the benefits of alternative therapies such as acupuncture and stretching for recovery and performance. We tackle the financial barriers to accessing these therapies and stress the importance of listening to one's body. Moreover, we underscore the need to support our friends who may be silently struggling, and how businesses like Crafted with TLC provide creative outlets and community support. As we gear up for Rare Disease Day, we celebrate the resilience and solidarity that Jewel and others find in shared experiences.Send us a text Are you living with a chronic illness and want to make your voice heard? Rare Patient Voice connects patients and caregivers with research opportunities—so you can share your experiences and get paid for your time! Your insights help drive real change in healthcare.Let's Get Started - Rare Patient Voice Support the showSupport:https://rarepatientvoice.com/Myspooniesisters/https://www.etsy.com/shop/MySpoonieSistershttps://www.graceandable.com/?bg_ref=980:nzTyG6c9zK (Use code GAJen10)Website:https://myspooniesisters.com/ Discount Codes: GIANT Microbes | Gag Gifts, Teacher Gifts, Doctor Gifts, Gifts for Girlfriends and Boyfriends code SPOONIE20 for 20% off

Happy New Year, CASK community! We're back with a new episode of the ROAR

Former WCCO producer and reporter Lindsay Guentzel joins Adam and Jordana in studio to talk about her upcoming trip to Rare Disease Day.

Ahead of Rare Disease Day on the 28th February, we speak with nutritionist, author and lifestyle medicine professional Rohini Bajekal about a rarer form of diabetes, MODY, or maturity onset diabetes of the young. Rohini shared the challenges she had to overcome to finally reach her diagnosis of this rare genetic condition.To connect with Rohini:www.rohinibajekal.comhttps://www.instagram.com/rohinibajekal Explanation of MODY: https://www.diabetesgenes.org/what-is-mody/ Guidelines for genetic testing in MODY: https://www.diabetesgenes.org/tests-for-diabetes-subtypes/guidelines-for-genetic-testing-in-mody/MODY calculator tool: https://www.diabetesgenes.org/exeter-diabetes-app/Genetic Test Referral Form: https://www.diabetesgenes.org/genetic-test-referral-forms/Diabetes UK information: https://www.diabetes.org.uk/about-diabetes/other-types-of-diabetes/modyExample case study: https://www.genomicseducation.hee.nhs.uk/genotes/in-the-clinic/presentation-patient-with-incidental-finding-of-raised-blood-glucose/Plant-Based Health Professionals UK Type 2 diabetes factsheet: https://plantbasedhealthprofessionals.com/wp-content/uploads/2024/11/Diabetes-factsheet08.11.24.pdf References Discussed:Chakera, A. J., Steele, A. M., Gloyn, A. L., Shepherd, M. H., Shields, B., Ellard, S., & Hattersley, A. T. (2015). Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation. Diabetes care, 38(7), 1383–1392. https://doi.org/10.2337/dc14-2769 https://pubmed.ncbi.nlm.nih.gov/26106223/Stride, A., Shields, B., Gill-Carey, O., Chakera, A. J., Colclough, K., Ellard, S., & Hattersley, A. T. (2014). Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia, 57(1), 54–56. https://doi.org/10.1007/s00125-013-3075-x https://pubmed.ncbi.nlm.nih.gov/24092492/Steel AM, Shields BM, Wensley KJ and others. ‘Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia'. Journal of the American Medical Association 2014: volume 311, issue 3, pages 279–286. DOI: 10.1001/jama.2013.283980 https://jamanetwork.com/journals/jama/fullarticle/1814212

RARE MAMAS RISING- EPISODE 46 Sharing Our Stories to Create Change     In this special Rare Disease Day episode of Rare Mamas Rising, host Nikki McIntosh explores the power of storytelling in the rare disease community. She shares why speaking up—whether through advocacy, education, or personal connection—can drive awareness, inspire action, and create lasting change. From helping newly diagnosed families feel less alone to influencing policies that improve care, our voices matter more than ever. Tune in to be encouraged, empowered, and reminded that together, we can make a difference.     CONNECT WITH NIKKI   Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com     PODCAST INFO podcast@raremamas.com    

In this inspiring episode of Once Upon a Gene, I sit down with Samantha and Wesley Rogers, founders of Lottie's Light Foundation, and proud parents of the incredible Lottie, who lives with a CERT1 mutation. The Rogers share the heartfelt story of how their journey with Lottie led to the creation of a foundation dedicated to empowering families, fostering connections, and encouraging others to find strength in the face of challenges. We explore how their mission encourages fighting for meaningful friendships, dreaming new dreams, and discovering untapped capacity for love and purpose. This conversation will leave you uplifted, motivated, and ready to celebrate the light that shines in every rare journey. Highlights: The heartfelt origin story of Lottie's Light Foundation. Insights into Lottie's personality, resilience, and the joy she brings to those around her. How the foundation inspires families to fight for friendships and redefine their dreams. Samantha and Wesley's advice on finding your capacity in the hardest moments. Tips for building friendships and community in the rare disease world. A reminder of the power of community and the importance of showing up for Rare Disease Day. Mentioned in This Episode: Lottie's Light Foundation Website Rare Disease Day 2025 in San Diego – Event details coming soon! Tips for building friendships and community in the rare disease world. Call to Action: Let's spread the light! Share this episode with your friends and community to celebrate the resilience, strength, and brilliance of the rare disease journey. If you're in San Diego or feeling adventurous, join us for Rare Disease Day 2025! Details coming soon. As always, don't forget to rate, review, and subscribe to Once Upon a Gene. Your support helps bring these powerful stories to more ears!

Drs Beth Kozel and Vidya Sivaraman visit the studio as we consider rare diseases and the 300 million people they impact (as a group, they aren't so rare!). February 28 is Rare Disease Day, which seeks to raise awareness, improve understanding, and provide support. We hope you can join us!

Genetic Counselor Amy Patterson shares about genetic screening and testing available for rare disease including her speciality of skeletal dysplasias.    Amy Patterson (she/her) is a licensed pediatric and adult genetic counselor in the Johns Hopkins Department of Genetic Medicine. She primarily works with patients in the Greenberg Center for Skeletal Dysplasias as well as the General Genetics clinic. Especially in the skeletal dysplasia space, Amy works to promote a holistic patient experience, including psychosocial counseling, connection with patient advocacy groups, informed consent, genetic testing and interpretation of results, coordination of care, and discussion of research options. Amy was a LEND Fellow and graduated from the Boston University Genetic Counseling program in 2021. She has focused much of her research and clinical work on the intersection of rare conditions, disability, and patient advocacy.   Amy initially started advocating in the rare disease space due to her best friend's sibling's rare genetic disorder, Congenital Hyperinsulinism. We actually interview their mother on Episode 37 of It Happened To Me. As a high schooler, Amy started educating their peers and community about rare disease on Rare Disease Day every year. After moving to Boston, she started volunteering at a Community Engagement Liaison for the Rare Action Network (RAN), the advocacy branch of NORD, then became the RAN Massachusetts State Ambassador. Through this work, she started putting on Rare Disease Day events at Boston Children's Hospital, and now at Johns Hopkins Hospital as a genetic counselor. Rare Disease Day allows all rare disease stakeholders to come together to share their experiences and continue to learn. Amy is passionate about this global effort to raise awareness and advocate for improved quality of life, diagnosis, and access to care for Rare patients and families.   Want to listen to our other episodes with genetic counselors?    In Episode 4, our Executive Producer, Kira Dineen, who is also a genetic counselor, shares how genetic counselors can help people navigate having a rare disease.    In Episode 7, Genetic Counselor Karen Grinzaid explains prenatal and cancer genetic testing. Kira also joins as a guest host since this is her area of expertise.    Want to speak to a genetic counselor? Find one in your area via FindAGeneticCounselor.org.     Stay tuned for the next new episode of “It Happened To Me”! In the meantime, you can listen to our previous episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “It Happened To Me”.    “It Happened To Me” is created and hosted by Cathy Gildenhorn and Beth Glassman. DNA Today's Kira Dineen is our executive producer and marketing lead. Amanda Andreoli is our associate producer. Ashlyn Enokian is our graphic designer.   See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, ItHappenedToMePod.com. Questions/inquiries can be sent to ItHappenedToMePod@gmail.com. 

Our friends at Jett Foundation invited us into their community once again for a conversation with 5 panelists on Rare Disease Day.  We were honored to moderate the discussion with these friends: Race Martinez - Architecture Student, living with Duchenne Kris Napper - Graphic Designer/Illustrator, Business Owner, living with SMA Chris Schlechty - Software Engineer, Jett Foundation Board of Directors, living with Limb-girdle Colin Werth - IT Specialist, International Traveler, living with Duchenne Amanda Becker - Mom to individual living with Duchenne The conversation covered topics such as adaptive driving, college transitions, building a career, volunteering to enrich the community, and entrepreneurship.  All of this helped highlight the strength and determination within the rare disease community. We hope you are as encouraged by this conversation as we are. Links and Resources: Jett Foundation Camp Promise

DC was epic, come next year! - Board Meeting and Leadership Team. - Rare on the Hill - Nancy, John, Vicky, Kathryn, Marta, Suzanne, Jess Johnson!   https://www.facebook.com/suzanne.v.jones/posts/pfbid02pMjKxryjDej62FM2RRA6afyU5JPkdB37dXzVrXMLFzjsWmRTQV2wtR3BNaaFcTK4l - Last week of Feb, don't miss it.   #RareBrewCoffee has launched! https://rarebrewcoffee.com/ use code SRF10   Reflecting on the latest Rick Huganir paper - This was in part supported (as acknowledged) by our first grant, 5 years ago we funded 10x that last year. - We are not a Rasopathy!  https://x.com/cureSYNGAP1/status/1763644994685153654?s=20  - We need to have Prof. Huganir do a webinar!   #DEI #SyngapWhileBlack Nice work Petersen family https://qcitymetro.com/2024/02/23/syngap-1-syndrome-autism-epilepsy-treatment/   State Coordinators and Advocates Sign up - We're looking for state representatives and state advocates - fill out this form if you're interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewform - Syngap1 Stories Episode 27 - guest host Jessica Johnson with guest Jackie Kancir - released 3/2. Syngap.Fund/Stories   We still do warriors, 198 is from Poland! - https://x.com/cureSYNGAP1/status/1763006900939956252?s=20 - https://curesyngap1.org/syngap-warriors/igor/ - Are you are warrior yet? https://curesyngap1.org/syngap-warriors/   Repurposing - Thought for the week - When you try a new molecule, any new molecule, take notes, videos and pictures.  - IF a drug increases cognition, expect frustration, at first. - Make sure you watch episode 134, even if it's long because I really go deep on repurposing.  https://youtu.be/luhVxDEXlcU?si=BUmyKmTkOvFMVN5Z    Notes, all on Youtube, make sure you subscribe there - 935 today let's get to 1,000 https://www.youtube.com/@CureSYNGAP1   List of repurposed drugs: Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8 Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ  Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs  Fycompa® (perampanel) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10469904/   Siblings - Order a kit, thank you UCB @UCBUSA  https://curesyngap1.org/sibling-support/   Ed's notes: - Aaron Harding guest on DeafBlind Potter Podcast - "Navigating Life's Challenges: A Journey with SynGAP - An Interview with Aaron Harding" - https://youtu.be/cagNgqmolgk?si=s9vAX1_jl07e4kOY - Jansen Jones, daughter of BOD chair Suzanne, was one of two rare disease children featured in a Rare Disease Day article by Children's Healthcare of Atlanta - https://drive.google.com/file/d/18lPSXcciyK3OHnSWDXxy1DDVZZvPc-sY/view - Newsletter issue 37 (2/25) includes these and more - https://curesyngap1.org/newsletter/   Scholarship - UCB USA Family Epilepsy Scholarship    - Blog - https://Syngap.Fund/UCB24    - Diagnosed with Epilepsy or immediate family member or caregiver    - Seeking higher education    - Application deadline March 15 https://drive.google.com/file/d/1PtAJfqOUkeXhX2NsyxvkB9A-pEHei5pc/view    Fundraising - Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises $500+ - Syngap.Fund/Sprint24  https://www.rifton.com/  (12 teams signed up as of 3/2 - we had 28 teams in 2023; already have $26,000+ in donations!!! Still a ways to go before we beat last year's record.) - MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/  - S.Carolina3rd annual Scramble 10/5 - link to past events is here:  https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/  - 3rd SYNGAP1 Conference, hosted by SRF in LA    - Pre-register to receive updated info when it's ready https://Syngap.Fund/24Pre    - Planning committee needs volunteers; if interested in helping, contact stacey@curesyngap1.org #SyngapConf   Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 135 of #Syngap10 - March 3, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat #F78A1 #CureSYNGAP1

Froggy experienced surge pricing, Skeery got a high grocery store bill, Sam wants you to be kind for no reason, Nate has a fun history fact, Danielle brings awareness to Rare Disease Day, and Gandhi has great advice from Lisa Lampanelli. See omnystudio.com/listener for privacy information.

It's February 29th and it comes but once every four years! We give you some fun trivia facts all about it and, also, remember that it is Rare Disease Day. Plus, some major drama surrounding Gandhi's doppelgänger video and we get to the bottom of the potato in the socks TikTok hack. Is it true? See omnystudio.com/listener for privacy information.

Rare Disease Day is the last day of February and we're honored to feature a pioneer in the field, Kinnari Patel, President and COO of Rocket Pharma. 30% of children with rare diseases will not make it to their 5th birthday. Kinnari uncovers the latest in gene therapy being used to treat patients and how their pediatric advancements are transforming lives. Meet My Guest: Website Facebook LinkedIn Press: Rocket Pharma Seeks Gene Therapy Revolution For Genetic Heart Disease MIND THE (PAY) GAP Inspirational Women in STEM and Tech: Kinnari Patel of Rocket Pharmaceuticals On The 5 Leadership Lessons She Learned From Her Experience Learn more about your ad choices. Visit megaphone.fm/adchoices

We talked to Jacqueline from Hanover about her daughter's rare genetic disorder

Maybe it's steroids? Maybe she's born with it? Wait… no, she's definitely born with it. It's HAE. How fitting is it that Rare Disease Day falls on a fairly rare day, Feburary 29th! In this episode, the fellas sit down with Jordyn Campbell, who not only shares her eye-opening journey with hereditary angioedema (HAE) but also how she's punching back with advocacy and awareness. What the hell is HAE? Here's the elevator pitch - your body decides to puff up like a balloon at the most inconvenient times, thanks to a rare genetic curveball. Welcome to Jordyn's world, where getting swole is just part of the daily routine, no gym membership needed. But there's more to her story than just coping with HAE. Through battles with misdiagnoses and the quest for the right treatment, Jordyn highlights the brighter side of her condition, including her impactful work with HAE Canada and finding unexpected joys in life's challenges. To cap it all off in the wrap-up, the boys are diving into a cheeky discussion about a recent study from plastic surgeons on the ideal male buttocks. Thankfully the Gen-Z consultant came high key came through to translate the science with a zero dose of cringe. The TLDR; This deep dive into male booty aesthetics fills a big ol' gap in the glow-up science, giving us the 411 on what's peak for the peach. These gems could pave the way for next-level booty sculpting moves, making sure bros walking into the OR can walk out feeling 100.Stick around for the end of the show to hear Jordyn's latest single “Hit and Run”Key Takeaways- Hereditary angioedema (HAE) is a rare genetic condition characterized by severe swelling of various body parts.- Receiving a diagnosis for HAE can be challenging, with many individuals experiencing misdiagnosis or a lack of clear answers.- Living with HAE can have a significant impact on daily life, including work, relationships, and sexual activity.- Advocacy and raising awareness are crucial for individuals with HAE to receive proper care and support.- The availability and coverage of different medications for HAE vary from province to province, leading to variations in treatment for patients.- Finding the right drug for HAE patients can be complex, as different drugs work differently for each individual based on their gene mutation.- The decision to have children when living with a hereditary condition like HAE involves considering the potential impact on the child's life and the parents' preparedness to handle the challenges.- Genetic testing can provide valuable information for individuals considering having children, allowing them to make informed decisions about their family planning.- HAE has not taken anything away from Jordyn's life, and she sees it as a part of her normalcy. It has given her confidence, the ability to help others, and a platform to share her experiences.- Having a hereditary condition like HAE can shape one's perspective on life and provide a unique understanding and preparedness for the challenges it presents.Follow Sickboy:Instagram: https://www.instagram.com/sickboypodcastTiktok: https://www.tiktok.com/@sickboypodcastDiscord: https://discord.gg/expeUDNSupport Sickboy:Patreon - https://www.patreon.com/sickboy

This episode is in honor of Rare Disease Day on February 29th. Dr. Tony Ebel interviews Crystal, a mother of a child with a rare genetic disorder called Sandhoff disease. They discuss Crystal's journey advocating for proper care and support for her son Cayden, as well as empowering other parents going through similar challenges. The episode emphasizes the importance of advocacy and community in improving quality of life for children with rare diseases and their families.Key Topics Covered:0:02 - Introduction to Rare Disease Day2:25 - Crystal shares background on her pregnancy and Cayden's birth11:00 - Frustrations getting referrals for physical therapy14:00 - Learning about chiropractic care as an option20:00 - Regression and hitting a plateau with gross motor skills24:00 - Receiving a recommendation to see a specialist36:00 - Increasing chiropractic care for positive changes41:00 - Connecting families to chiropractic within the Sandhoff community47:00 - Overview of PX Docs online community and social media56:00 - Living in disbelief at the progress being made58:00 - Final thoughts on advocacy and empowermentTo Follow More of Cayden's story on Instagram: @cheeringforcayden-- Follow us on Socials: Instagram: @pxdocs Facebook: Dr. Tony Ebel & The PX Docs Network Youtube: The PX Docs For more information, visit PXDocs.com to read informative articles about the power of Neurologically-Focused Chiropractic Care. To attend the next live Webinar: https://www.thepxdocs.com Find a PX Doc Office near me: PX DOCS Directory Subscribe, share, and stay tuned for more incredible episodes unpacking the power of Nervous System focused care for children!

#S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I   Rochester - Check.  I asked in #S10e132 to do this and you stepped up, thank you.  We hit 200!   Aparito time Fill this in: https://forms.gle/4EsW3wu8BG4TQrD7A    The intersection of biomarkers and repurposing: The latter could help us figure out which of the former to focus on which could be the difference between a drug making it.   Repurposing:  Friend message - “And I wanted to tell you about the worsening behavior with treatments: a friend of mine has a son with Dravet syndrome, and many years ago they started him on a drug that reduced the seizures quite a bit, and my friend used to say “with this new treatment cleaning his brain from all those EEG interferences, we are starting to see more of his personality… and we've realized that we don't like him”. Very harsh but very real to say”   Morning Video SM vs ASO vs AAV https://www.youtube.com/watch?v=-xp3kTsBz38   List of repurposed drugs: Ravicti® (glycerol phenylbutyrate) - https://www.youtube.com/watch?v=Rwwdifsu1g8 Butyrate - https://www.youtube.com/watch?v=hjl9Z5_uQws NAL - https://www.youtube.com/watch?v=TphYC3o2BJQ  Pamelor® (nortriptyline) - https://www.youtube.com/watch?v=z0BdjDaWiMs  Fycompa® (perampanel) - Need to have a webinar on this.   Fycompa ® story from middle market country, Fycompa + Depakine + Risperadone.  Wow.   Ethics. Is it ethical to sit back and let our kids suffer?   Thank you to Virginie who is helping with EEG grant and volunteers, we have her back from ciitizen!  Thank you to those working on CZI grant too!   Congratulations to Encarnation and the SYNGAP1 European Team for this coverage https://english.elpais.com/health/2024-02-12/unraveling-the-mystery-of-celias-inexplicable-disease.html   Ed said: Syngap1Stories Episode 26 guest Paulina Polanco - released 2/13. Includes her Family Day talk in Orlando. Syngap.Fund/Stories Cafe Syngap1 Episode 11 guest Claudio Diaz - released 2/17 Syngap.Fund/Cafe Get Ready for Sprint - save the date 4/27/24 - sign up your teams now; Rifton is giving away another adaptive tricycle to a team who raises >$500 - Syngap.Fund/Sprint24  https://www.rifton.com/  (9 teams signed up as of 2/23 - we had 28 teams in 2023;) Orlando Family Day VideosUploaded to YouTube (https://www.youtube.com/playlist?list=PLjpr3a14_ls3PKu4oB_aeU_tfyYLE6-jj)  Added to Paulina's blog recap of the day (https://curesyngap1.org/blog/syngap1-family-day-2023-a-beacon-of-hope/);  Videos include Science Day Recap as well as a separate video of Mike's recap on “Where are we now?”, a summary of how parents can prepare for what's coming in the next couple of years (https://youtu.be/-xp3kTsBz38?si=_qHKRsYz2uJDJR_F). SYNGAP1 Conference 2024 hosted by SRF - planning committee will start meeting soon; if interested in helping, contact stacey@curesyngap1.org #SyngapConf SYNGAP1 Sibling Shanaye, a High School senior, is using her platform as the 2023 Hodgeman County Miss Teen Pageant winner to spread the word about SYNGAP1, which affects her younger sister Addison.YouTube Video - https://youtu.be/4L32aPNMSeM?si=EqNEhROdzvfGZxEQ Addison's Warrior Story - https://curesyngap1.org/syngap-warriors/addison/ We teamed with Simons Searchlight for their annual Shine Your Searchlight Campaign - if you're not signed up with Simons yet, sign up now - https://www.simonssearchlight.org/ Sydney & Sandy in S. Africa for Rare-X Rare Disease Conference - https://x.com/sandysmith317/status/1757669120928047520?s=20 We're looking for state representatives and state advocates - fill out this form if you're interested - https://docs.google.com/forms/d/e/1FAIpQLSfPWiyvAPuKif-h2bbMBqUKVLMeOeK-ISehbM9PvnReXMRjZg/viewformState Representatives - provide a point of contact for SYNGAP1 families (especially newly diagnosed) in your state to assist with information about registries, studies, fundraising, and other resources State Advocates - help families in your state navigate difficult systems (education, healthcare, state services, legal, etc.)   Upcoming Rare Disease Day - join us in DC; two blog posts:Rare Disease Day 2024 - what is it and how can you help SYNGAP1? You Should Represent SYNGAP1 During Rare Disease Week on Capitol Hill #S10e96 - https://www.youtube.com/watch?v=MkCKK4Z7J2I   Fundraising Getting organized:MDBR 6/8 - link to 2023 blog https://curesyngap1.org/blog/mdbr-2023-everything-we-want-to-c-happening-for-syngap1-camaraderie-community-collaboration/  2nd annual Golf Tourn in Canada 6/8 CFTC early-mid Sept? Link to past events is here:  https://curesyngap1.org/events/fundraisers/cannonball-for-the-cure/  3rd annual Scramble 10/5 - link to past events is here:  https://curesyngap1.org/events/fundraisers/scramble-for-syngap-2023/  4th annual SRF Gala honoring Caren Leib 10/18 - link to past events is here:  https://curesyngap1.org/events/fundraisers/srf-gala-honoring-caren-leib/ 3rd SYNGAP1 Conference, hosted by SRF in LA - pre-register to receive updated info when it's ready https://Syngap.Fund/24Pre   Podcasts, give all of these a five star review! SRF Channel - https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 Episode 134 of #Syngap10 - Feb 24, 2024 #epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat