Podcasts about Rare Disease Day

100 EPISODES!!!It is hard to believe that over 6 years ago, we started Raising Rare as an experiment. How would people react to following the life of a young family affected by an ultra-rare disease? The response has been wonderful. The experience has been transforming. We thank Sanath Kumar Ramesh for sharing his stories all these years.And with our 100th Episode, we start a new era for Raising Rare. Brittany Ratke will be my partner, riding solo in the co-host seat. Brittany and Sanath have shared the co-host role since 2022. With this change, we are going to focus more on Brittany's family and slowly shape the show to her story and her style. Laughter, tears, and heartfelt questions.Our hope is that our conversation will bring more people from the rare disease community together. As we reflect, we realize how many amazing people we have met along the way.Brittany shares some positive developments in their care team, Everleigh's school, and family life. They even celebrated Rare Disease Day at school.We also touched on the impact on and of siblings of kiddos with a rare disease. They grow up faster than a lot of kids. They share in ways most people would not realize.We are looking forward to a great season.

Life is one giant puzzle and we spend it simply gathering up all the pieces we can and attempting to put them in some sort of working order. This week we're talking the puzzles of life on Outlook - it's nearly Rare Disease Day, an awareness day that is on the final day of February each year, as every four years it will then fall on February 29th, the rarest day of the year. Sister/co-host Kerry is sharing about recently looking into other possible conditions to add to the diagnosis she and brother/co-host Brian seem to be dealing with, as we also discuss more about the rare syndrome we have already been diagnosed with: Senior-Løken syndrome which includes our retinal blindness, kidney disease, and scoliosis. Kerry explains why she's taking things to the next level and what she's doing such as applying to get into a clinic in Toronto for connective tissue disorders and Brian explains the where and when and what of Senior-Løken. Kerry brings props into the studio for this one including a giant marble model of the Earth Barry gifted Kerry and the braille heart puzzle she gave BF Barry for Valentine's Day to illustrate how difficult it can be to sort out proper medical diagnosis for a wide array of physical and mental and emotional symptoms like ours. Also, to make a heart the right way up with the braille in its proper place. For years, as patients and spending plenty of time at children's hospitals, there were always puzzles to keep kids occupied, on tables in waiting rooms. Our older brother follows the steps, as he did when he came in, fully equipped, to figure out what the issue was with Kerry and Barry's surround system speaker while our grandfather always had someone's homemade wooden puzzle for us to figure out when we visited. Other members of our family have always had double jointed fingers, extra flexible feet and hands, enough that a few hundred years ago we could have been in sideshows, but with Kerry's latest symptom of daily foot pain we're reflecting back on our medical past while Kerry receives tests like an ECG of her heart to try to find out more about a possible hyper-mobility condition such as Ehlers-Danlos Syndrome. We discuss running into our old Braille transcriber at a community spaghetti/lasagna dinner, sports including Canada's hockey losses in the Olympics and fantasy baseball starting up again, while BF Barry and Kerry announce they'll be flying with the leprechauns in March, springing once more four or five hours into the future with the clocks about to change and spring ahead. But before March we're finishing up February as the boys share about birthday month and Family Day, which Barry fits right in on, with the weekend guys night to celebrate our brother-in-law's birthday a day after Barry's and BF Barry looks Kerry up by searching her rare conditions, with a rough sounding voice which might be a clue into all the talking that went into attending guy's night. We're extra rare and BF Barry believes it. Dare to be rare and check out more about Rare Disease Day and this year's theme of “Action and Access” with the voices of the rare youth and their voices for change: https://www.rarediseaseday.org

In this special Rare Disease Day conversation, The Dudes partner with Jett Foundation to moderate a thoughtful panel on advocating for care needs, independence, and life with disability. Joined by Jake, Ashley, Charlie, and Xavier, the discussion highlights the many forms advocacy can take—from managing care and navigating insurance to simply showing up in the world, pursuing work, and building a meaningful life on your own terms.Each panelist brings a unique perspective, sharing honest reflections about college, caregiving, careers, medical systems, and the ongoing balance between needing help and wanting independence. What comes through clearly is that advocacy is not one-size-fits-all. Sometimes it looks like hiring the right support, sometimes it means pushing back on a doctor or insurer, and sometimes it's the quiet determination to keep moving forward even when life feels uncertain.The episode is also grounded in heart, vulnerability, and community. Sean offers a moving tribute to the late Kyle Cox, honoring his belief in ability over limitation, while the panelists leave listeners with practical and encouraging advice: embrace the overwhelm, document the process, never accept the first no, and keep building independence one step at a time. It's a powerful conversation about resilience, self-advocacy, and creating a life that is bigger than diagnosis.

28th February was Rare Disease Day and this episode is dedicated to those living with Rare diseases because you matter and you are awesome! I see your resilience, I see your strength and I am rooting for you!

To mark Rare Disease Day, this special Spotlight episode explores why rare diseases - affecting an estimated one in 17 people in the UK – still face years of diagnostic delays and limited treatment options.Host Sarah Darwood speaks to CEO of LifeArc Dr Sam Barrell and Terry Pirovalakis, whose son Michael has been diagnosed with the rare neurological disorder SPG50. Their discussion looks at the reality of the “diagnostic odyssey”; gaps in data, investment and regulatory pathways; and the financial and structural challenges that limit progress in rare conditions.They also explore the growing role of parents as advocates and innovators, the case for a national rare disease champion, and why a more joined-up approach across government, regulators, industry and charities is essential to delivering faster diagnoses and access to life-changing therapies.This New Statesman podcast episode has been fully funded by LifeArc.Find out more about LifeArc's Taskforce Report and recommendations.LISTEN AD-FREE:

Parenthood doesn't always unfold the way we imagine.In this Rare Disease Day special, Sarah shares her family's lived experience of parenting a child with a rare disease — from diagnosis and grief to resilience and connection. This conversation explores how labels can become tools for finding support, not reasons for hiding, and how A Different Story was created as a community for parents in the Netherlands to be seen, heard, and held.This episode may feel heavy for some — and deeply affirming for others. It is shared with care, dignity, and the belief that no one should navigate this journey alone.

On this episode of This Week in Pharmacy, we spotlight two major conversations shaping the future of pharmacy practice in 2026. First, we welcome Dr. Lisa Faast, PharmD, founder of DiversifyRx, to discuss the Pharmacy Profit Summit 2026 and how independent pharmacies can strengthen margins, diversify revenue streams, and build sustainable growth models in today's reimbursement environment. Then, we turn to Rare Disease Day 2026 with Richard Ferris, PharmD, Chief Commercial & Clinical Officer at PantherRx, to discuss specialty pharmacy leadership, pharmacist impact, and new patient feedback data revealing communication gaps in rare disease care. Segment 1: Pharmacy Profit Summit 2026 Guest: Dr. Lisa Faast, PharmD | Founder, DiversifyRx Dr. Faast joins us to break down the vision behind Pharmacy Profit Summit 2026 — an event designed to equip pharmacy owners with practical strategies to increase profitability while maintaining clinical excellence. Key Topics Covered: • Why independent pharmacies must move beyond traditional dispensing revenue  • Diversification strategies including niche services and high-value offerings  • Real-world financial benchmarks pharmacy owners should track  • How mindset, leadership, and data discipline drive sustainable profitability  • The importance of collaboration and shared intelligence among pharmacy entrepreneurs The Pharmacy Profit Summit is not just about revenue — it's about equipping pharmacy owners to compete intelligently in a rapidly consolidating healthcare market. Segment 2: Rare Disease Day 2026 Guest: Richard Ferris, PharmD | PantherRx Rare Pharmacy In recognition of Rare Disease Day 2026, we are honored to welcome Richard Ferris, PharmD, to discuss the critical role pharmacists play in specialty pharmacy and rare disease care. PantherRx recently released survey findings examining patient and caregiver experiences within rare disease treatment journeys. Key Study Highlights: • 90% of patients and caregivers report delays due to communication gaps  • 68% report waiting for updates from providers, pharmacies, or insurers  • 90% say they manage the care process themselves  • 72% desire a dedicated care coordinator  • 73% agree it is unclear who is responsible for coordinating rare disease care Despite advances in specialty therapeutics, patients are still asking for the fundamentals: clear communication, coordinated care, and personalized support. Richard discusses: • The growing importance of specialty pharmacists as care coordinators  • Why rare disease patients often feel burdened by system fragmentation  • How specialty pharmacy can close communication gaps  • The need for pharmacist-led continuity in complex therapy management Rare Disease Day reminds us that specialty pharmacy is not only about high-cost medications — it is about human connection, long-term coordination, and advocacy for patients navigating some of the most complex clinical journeys in healthcare.  From business sustainability to patient-centered specialty care, this episode reinforces two realities: Pharmacy must remain financially strong to survive. Pharmacists must remain clinically present to lead. As the profession evolves, profitability and patient advocacy are not opposing forces — they are interdependent pillars of pharmacy's future. Listen now and join the conversation shaping Pharmacy in 2026.

On this episode of BloodStream, we're thrilled to sit down with Connie Montgomery alongside Jeff and Barb for a warm, wide-ranging conversation grounded in lived experience and deep community roots. Together, they reflect on the moments that shape advocacy, the evolution of the bleeding disorders space, and the power of staying connected to one another. Plus, a nod to Rare Disease Day, a bit of BloodStream banter, and a preview of what's ahead. Tune in, share with your community, and as always—take self-care of yourself. Presenting Sponsor: Takeda, visit bleedingdisorders.com to learn more.   Subscribe: The BloodStream Podcast   Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook  BloodStream on X/Twitter  BloodStream on Instagram BloodStream on LinkedIn BloodStream on TikTok  

This Rare Disease Month, the team is shifting its focus to the caregivers. Caregiving is often seen as the ultimate display of love. It's a role that needs more recognition, but when we start thinking about caregivers as heroes, we risk no longer seeing them as people who could need support from others. In this episode, Sonika and Gabe are joined by Raregivers' founder Cristol Barrett O'Loughlin, Havas Health's Global Rare Disease Lead Afshan Rizvi Hussain, and Social Strategist Binaka Norris to discuss the emotional pain caregivers endure and the global PSA they're launching for Rare Disease Day to bring that pain to light. Their illuminating conversation examines how idealized narratives of strength can unintentionally deepen stigma and suppress vulnerability. Through the lens of caregivers of people with rare diseases, they explore the emotional complexity of long-term care and the psychology of self-sacrifice.Follow us on LinkedIn

Rare Disease Day Special | Let's Talk RareThis Rare Disease Day, Let's Talk Rare releases a special episode focused on the data and real-world context behind rare diseases.The episode features Iro Malekous, consultant at Partners4Access, who discusses:Key statistics shaping the rare disease landscapeWhat those numbers mean for patients and familiesGaps in diagnosis, access, and treatmentWhy Rare Disease Day remains an important global awareness momentThis episode takes a clear, evidence-based look at rare diseases while grounding the discussion in lived experience.

Gibraltar's elected representatives could debate the text of the Treaty for Gibraltar's future relationship with the EU as early as Tuesday. The Chief Minister says he envisions a vibrant, positive and growing Gibraltar after the Treaty. Ros Astengo brings us the latest from Viewpoint. Aniridia advocate Eloise Durante joins us to share her journey living with the rare genetic eye condition, with tomorrow being Rare Disease day. The season of Lent is underway, and the annual Lenten Lunches return — Navy Chaplain Father Danny Hernandez will be with us in the studio.Plus, the latest sports news.And, leading names in music education are in Gibraltar. We'll be joined by Professor Andy Stott and UK gospel singer Wayne Ellington, as well as GAMPA's Jeremy Perez. Hosted on Acast. See acast.com/privacy for more information.

Dr. Tugce Balci - Medical Geneticist with London Health Sciences Centre and Dr. Sunita Venkateswaran - a paediatric neurologist and associate professor in the Department of Paediatrics at Western University joined Mike Stubbs in the 980 CFPL studios to talk about Rare Disease Day and the SWORD (Southwestern Ontario Rare Disease) program at LHSC.

In this special Rare Disease Day episode of the Brain & Life podcast, co-hosts Dr. Daniel Correa and Dr. Katy Peters respond to your listener questions. They explore how rare diseases can affect relationships, offer guidance on planning for the future, and share tips for explaining complex medical conditions to others.   Resources Mentioned In the Mix with Rob Floyd: Lessons on Mixology and Moyamoya What is Pompe Disease? Surviving Stroke: A Story of Perseverance and Grace CADASIL Foundation Pompe Disease News   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

Living with Angelman Syndrome: Christopher's Story Hosted on Acast. See acast.com/privacy for more information.

Airing just days ahead of Rare Disease Day 2026, this mdgroup live episode focuses on the voices that matter most in rare disease research: patients and caregivers. Miriam is joined by Sarah Woods, rare disease patient, rare mom, and Founder of the Serenely Guided Foundation for Rare Diseases, for an honest and insightful conversation shaped by lived experience. Drawing on her personal journey and over 20 years of experience as a business and communications leader, Sarah shares why patient and caregiver perspectives must evolve beyond “input” to true leadership roles within clinical trial design. Together, they explore how patient-centricity, when implemented meaningfully, can enhance trial experiences, foster engagement, and ultimately lead to improved outcomes for the rare disease community.

Am 29. Februar, dem seltensten Tag im Kalender, ist der offizielle Rare Disease Day. In Nicht-Schaltjahren - wie 2026 - findet er am 28. Februar statt. Rund um den Globus finden dann Aktionen statt, die die Sichtbarkeit von seltenen Erkrankungen erhöhen und Solidarität mit den Betroffenen zeigen. Auch Martin und Daniel feiern den besonderen Tag in dieser Episode, die vollgepackt ist mit Updates aus Forschung, Neuigkeiten aus Medizin und handfesten Tipps, wie auch ihr eine Beitrag zum diesjährigen Rare Disease Day leisten könnt

In this week's episode of the Xtalks Life Science Podcast, host Ayesha Rashid, Senior Life Science Journalist at Xtalks, spoke with Andrea Wilkinson, Global Head of Patient Engagement & Advocacy, Epilepsy & Neuromuscular at UCB, a company dedicated to developing solutions for autoimmune and neurological conditions, including epilepsy. The company has a growing commitment to addressing unmet needs in rare neurological diseases and underserved patient populations. With fewer than 5% of clinical trials including pregnant women, major knowledge gaps persist, particularly for women with epilepsy. In this episode, we look at new research that used social media listening across several countries to uncover treatment fears, uncertainty and barriers women face during pregnancy and motherhood, and what must change to better support informed decision-making. While epilepsy is not considered a rare disease, epilepsy in pregnancy represents a small, clinically complex population that faces unique risks and persistent care gaps. Andrea is a biotech and health tech executive who has led strategic product launches for over 30 breakthrough biopharmaceutical therapies. Focused on improving outcomes for patients, particularly in rare diseases, she has worked with early- to late-stage launch teams at AstraZeneca/MedImmune, Takeda and Sanofi Pasteur. She develops platform tools, stakeholder roadmaps and patient-centered advocacy campaigns to support first-in-class medicines and address access, reimbursement, regulatory and commercial barriers. Andrea is also an angel investor with Pipeline Angels and serves on the boards of Project Open Hand and the HBA Pacific Region. She holds a BA from Louisiana Tech University. Tune in to learn more about the unmet needs, challenges and advancements in the rare disease and epilepsy spaces. For more life science and medical device content, visit the Xtalks Vitals homepage. https://xtalks.com/vitals/ Follow Us on Social Media Twitter: https://twitter.com/Xtalks Instagram: https://www.instagram.com/xtalks/ Facebook: https://www.facebook.com/Xtalks.Webinars/ LinkedIn: https://www.linkedin.com/company/xtalks-webconferences YouTube: https://www.youtube.com/c/XtalksWebinars/featured

If you've ever felt like healthcare "listens" to patients the way a cat listens to a vacuum… this episode is for you. Wes Michael (Rare Patient Voice) breaks down what it really takes to build a community where patients feel safe, respected, and actually heard and how that trust turns into better research, better decisions, and better outcomes in rare disease. Skot and Wes talk about the company's evolution, why patient time should be compensated, how surveys and interviews turn lived experience into usable insight, and the difference between "collecting data" and "earning truth." You'll also hear why caregivers matter, what advocacy looks like in practice, and how meaningful work scales when you protect the human part of the process. Timestamps:  00:00:00 – Intro & Highlights 00:04:34 – Rare Disease Day and Why This Conversation Matters 00:05:04 – The 12-Year Cycle: Why Wes Chose to Make a Big Change 00:07:41 – Working with Pharma: Where Patient Insight Fits 00:08:19 – Paying Patients for Their Time (and Why That's Respect) 00:09:35 – Surveys, Interviews, and Capturing the Real Story 00:13:26 – Turning Lived Experience into Useful Data and Decisions 00:17:22 – Caregivers: The Missing Piece Most People Overlook 00:23:59 – Lightning Round: Trust Killers, Hiring Lessons, Keeping Promises 00:32:20 – Advocacy, What's Next, and Wrap-Up Website: rarepatientvoice.com LinkedIn: www.linkedin.com/in/wesmichael Instagram: www.instagram.com/rarepatientvoice Facebook: www.facebook.com/rarepatientvoice

RARE MAMAS RISING- EPISODE 55 Plugging Into the Rare Community   In this special Rare Disease Day episode of Rare Mamas Rising, Nikki McIntosh reads the chapter "Plugging Into the Rare Community" from her book Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease and reflects on what Rare Disease Day has taught her as a rare disease mom. This heartfelt episode explores the power of the rare disease community, the importance of caregiver support, and why connection among rare moms can change the way we carry even the hardest seasons of rare disease parenting. Whether you are newly navigating a diagnosis or years into your caregiving journey, this episode offers encouragement, validation, and a reminder that no rare mama was meant to do this alone.   Links & Resources Mentioned: For more info on Rare Disease Day, check out: https://www.rarediseaseday.org https://rarediseases.org   For more support and sisterhood, check out Nikki's new book, Rare Mamas: Empowering Strategies for Navigating Your Child's Rare Disease. Order the book today at the links below: Amazon Apple Books Barnes & Noble Bookshop.org Books-A-Million IndieBound Indigo Kobo Porchlight Book Info: www.raremamas.com/book   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 honor of Rare Disease Day, we sat down with Tammy Black, Chief Communications Officer at the Immune Deficiency Foundation (IDF), to discuss primary immunodeficiency (PI): a rare, lifelong condition that affects thousands of people and is frequently misdiagnosed. Tammy shares how living with a chronic illness shapes daily life and why education, advocacy, and strong community support are essential for patients and families.Building on our ongoing conversations about rare diseases and patient access, this episode highlights the power of awareness and connection in improving outcomes for those living with PI. Tune in to learn more about how you can get involved and support IDF, CTI's Q1 Charity of the Quarter.01:00 Tammy Black explains the Immune Deficiency Foundation's mission and primary immunodeficiency.03:35 Why many patients go decades without answers and don't appear ill despite serious health risks.05:40 She connects PI experiences to pandemic‑era lessons and highlights how millions live in constant protection mode.06:30 Barriers to adult diagnosis, lack of immune health conversations, and how IDF's assessment tool helps patients advocate for themselves.08:50 How IDF reduces isolation through support groups, peer matching, walk events, and national conferences.10:30 Patient handbooks, webinars, school and clinician toolkits, and resources for newly diagnosed families.13:55 Policy priorities including vaccines, healthcare access, and coverage challenges for immunoglobulin therapy.15:40 How IDF partners with researchers and regulators to advance gene research and expand newborn screening for severe immune disorders.18:10 Ways listeners can support IDF through donations, fundraising, volunteering, and plasma donation.20:10 Tammy shares details about IDF's documentary debuting publicly on YouTube for Rare Disease Day (Feb 28). 

Happy New Year listeners! We hope you enjoyed the holidays and are off to a wonderful start of 2026!    The last episode we released featured our Executive Producer Kira Dineen putting on her genetic counseling hat to explore how genetic counselors can help those in the rare disease community. With how much you all enjoyed that “blast from the past” episode, we thought we would bring you one more before our new episodes of 2026 kick off.  So we are continuing on the topic of rare diseases genetics, and revisiting our episode with Amy Patterson, who is a genetic counselor as well. In this conversation she shares with Cathy and Beth about genetic screening and testing available for rare diseases including her speciality of skeletal dysplasia.   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.   

This replay of our first-ever Two Disabled Dudes Podcast live broadcast captures all the excitement—and a few mic mishaps—of going live with our audience. Listeners from around the world joined in via chat while we shared personal updates, gave away a $20 Amazon gift card, and welcomed returning guest Effie Parks, host of Once Upon a Gene. Effie reflected on how our show inspired her to start her own podcast and shared moving stories of how her work connects and empowers rare disease families.Together, we dove into the vision for Rare at Sea, our upcoming group cruise in February 2026 celebrating Rare Disease Day. From accessibility perks to the joy of connecting without a strict agenda, we discussed why this trip is as much about friendship and fun as it is about awareness. We wrapped up with gratitude notes, an open invitation for anyone connected to rare disease to join us, and a reminder to catch our next live recording on August 17, 2025.

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.

(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)

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.

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.

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

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!