Podcasts about rare disorders nord

In this episode, Sarita is joined by Jenifer Waldrop, Executive Director of the Rare Disease Diversity Coalition (RDDC), to discuss the Inequities in the Rare Disease Community Report completed in partnership with the National Organization for Rare Disorders (NORD).This research involved over 2,800 participants and sheds light on the barriers faced by underrepresented patients with rare diseases. Tune in as we delve into this groundbreaking national survey, while offering critical insights into healthcare access challenges.Learn more about RDDC and NORD:RDDC at rarediseasediversity.org NORD at rarediseases.org

This week is pretty mighty! My guest today is Mike Porath, Founder and CEO of The Mighty. The Mighty is powered by the shared experiences of 3.5 million members, whose stories have been shown by Harvard researchers to improve health outcomes as a first-of-its-kind bibliotherapy. Mike's experience raising a daughter with a rare disease, Dup15q syndrome, taught him the impact of community and inspired him to create the company.Mike has become a leading voice for patient-centered healthcare, speaking at events around the world and collaborating with healthcare leaders on a number of initiatives. He serves on the board of directors for the National Organization for Rare Disorders (NORD) and Dup15q Alliance, the non-profit that supports people with his daughter's disease. For his work leading The Mighty, Mike was named one of the Top 5 Consumer HealthTech Executives in 2021. He was also named one of the world's top 50 philanthropists by Town & Country, which cited the impact The Mighty has had on millions of people.Prior to launching the company, Mike was a journalist and digital media executive at ABC News, NBC News, The New York Times and AOL, where he served as editor in chief. His reporting in Kosovo was awarded with the top prize in online journalism. Mike graduated with honors from The College of William and Mary. He lives in Los Angeles with his wife and four children.Check out The Mighty at www.themighty.comFollow me @offthecrutchpod or e-mail me at offthecrutch@gmail.com

Join us for the 30th episode of Your Child's Brain. In this episode, we reflect back on the topics that we discussed over the past 2 ½ years and talk about the progress that has been made in understanding and treating disorders of the developing brain and nervous system. Dr. Brad Schlaggar, president and CEO of Kennedy Krieger, is joined by his colleague Dr. Ali Fatemi, a pediatric neurologist and neuroscientist, who, in addition to serving as Chief Medical Officer at Kennedy Krieger, holds the Blum-Moser Endowed Chair in Pediatric Neurology at Kennedy Krieger, and leads the Moser Center for Leukodystrophies at Kennedy Krieger. Dr. Fatemi is also professor of neurology and pediatrics at the Johns Hopkins University School of Medicine.   Links to visit: Rare Disease Network https://www.rarediseasesnetwork.org National Organization for Rare Disorders (NORD) https://rarediseases.org/ Eunice Kennedy Shriver Intellectual & Developmental Disabilities Research Centers (EKS-IDDRCs) https://www.nichd.nih.gov/research/supported/eksiddrc Kennedy Krieger Intellectual & Developmental Disabilities Research Center https://www.kennedykrieger.org/iddrcSee omnystudio.com/listener for privacy information.

Join Melody Burchett, founder and President of A Cure in Sight, with communications and events coordinator, Hanna Hulick to discuss the INSIGHT Registry. This is a unique rare disease patient registry. insight.iamrare.org The INSIGHT Registry is an online registry for patients with Ocular Melanoma (OM). It will be hosted by the National Organization for Rare Disorders (NORD); an independent non-profit patient advocacy organization dedicated to individuals with rare diseases and the organizations who serve them and as such is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. The registry will collect information from participants, (or their authorized respondents, heretofore referred to collectively as “participants”), who are affected by Ocular Melanoma. join the registry today: insight.iamrare.org reach out to contact@acureinsight.org for support with the registry. ANNOUNCEMENTS: 5K SITES ARE OPEN FOR REGISTRATION NEAR YOU! Start your team and bring your community to get involved!  November 11, Los Angeles CA https://runsignup.com/Race/CA/SantaMonica/LookinForACureLosAngeles November 19, Scottsdale, AZ https://runsignup.com/Race/AZ/Scottsdale/LookinForACureArizona December 9, Dallas FTW TX https://runsignup.com/Race/TX/FortWorth/LookinForACureFortWorth December 10, Houston, TX https://runsignup.com/Race/TX/Houston/LookinForACureHouston January 20, 2024 Orlando FL https://runsignup.com/Race/FL/Orlando/LookinForACureTampa January 21, 2024, Miami FL https://runsignup.com/Race/FL/Miami/LookinForACureMiami Head to our site to register for a 5K Lookin' for a Cure near you for the remainder of the year!! www.lookinforacure.org Subscribe to the newsletter to stay in the know Newsletter link Email contact@acureinsight.org for questions regarding any upcoming events! ********* Be sure to follow us on Facebook, Twitter, Linked In, or  Instagram @acureinsight, for more stories, tips, research news, and ideas to help you navigate this journey with OM! *A Cure in Sight is a 501c3 organization. All donations made can help fund our podcast to educate patients, fund research, aid patients, and more! Donate $10 $15 $20 today to help A Cure in Sight in their quest to find a cure. Contribute via  PAYPAL OR VENMO or reach out directly to contact@acureinsight.org 

TCF-001 TRACK is a patient advocacy initiated, decentralized clinical trial enrolling patients with rare cancers and cancer of unknown primary. Patients can enroll remotely without a requirement to travel, and enrolled patients receive biomarker testing of tissue and blood at no cost, as well as treatment recommendations from a virtual molecular tumor board. This presentation will provide details on how TRACK works, and how it seeks to achieve its goals of providing patients with personalized, potentially actionable information while simultaneously generating critical research data. Jim Palma is the Executive Director of TargetCancer Foundation. Since joining TargetCancer Foundation in 2010, Jim has overseen its growth from a small start-up to a nationally recognized foundation supporting comprehensive rare cancer research programs and patient support services. Prior to joining TargetCancer Foundation, he spent eleven years at Fidelity Investments in Boston, MA. Jim is a member of the Board of Directors of the National Organization for Rare Disorders (NORD), and is a founding Co-Chair of the NORD Rare Cancers Coalition. In addition, Jim is a Steering Committee member at the GI Cancers Alliance and the Global Cholangiocarcinoma Alliance. Jim completed studies at the Institute for Nonprofit Management and Leadership at the Questrom School of Business at Boston University, and received his B.A. from Loyola University Maryland. --- What We Do at MIB Agents: PROGRAMS: End-of-Life MISSIONS Gamer Agents Agent Writers Prayer Agents Healing Hearts - Bereaved Parent and Sibling Support Ambassador Agents - Peer Support Warrior Mail Young Adult Survivorship Support Group EDUCATION for physicians, researchers and families: OsteoBites, weekly webinar & podcast with thought leaders and innovators in Osteosarcoma MIB Book: Osteosarcoma: From our Families to Yours RESEARCH: Annual MIB FACTOR Research Conference Funding multiple $100,000 and $50,000 grants annually for OS research MIB Testing & Research Directory The Osteosarcoma Project partner with Broad Institute of MIT and Harvard ... Kids are still dying with 40+ year old treatments. Help us MakeItBetter. https://www.mibagents.org​ Help support MIB Agents, Donate here https://give-usa.keela.co/embed/YAipuSaWxHPJP7RCJ SUBSCRIBE for all the Osteosarcoma Intel

I look forward to sharing this story in more detail but the Mother Wit Podcast is simply not the appropriate forum. The reasons that I started the Mother Wit Podcast are too near and dear to let this derail me now, so other than an unscheduled break and taking some time for self care and reflection, I hope to be back with your health care stories and expert interviews soon. Resources Cure HHT (Hereditary Hemorrhagic Telangiectasia) What are the signs and symptoms? How is HHT diagnosed? Pregnancy/gynecological care National Organization for Rare Disorders (NORD) - they have a podcast too! Rare Disease Foundation Mother Wit Resources Thriving After Birth⁠ (an online course) ⁠Comprehensive Care⁠ 60 Min Consultation⁠: Use discount code- FirstConsult10%off Instagram: @mother.wit.maternity ⁠You Tube Channel⁠ NEW ⁠Exercise in the perinatal period: For healthcare providers⁠ (an online course)

One in ten Americans, or one on every elevator and four on every bus, is impacted by a rare disease. Yet, 95 percent of rare diseases do not have approved treatment. On a promising note, bio-pharmaceutical companies working on orphan drugs have more than 800 projects in clinical development. In a ground-breaking clinical trial, a participating patient at the University of Connecticut Health Center was the first in the world to receive an infusion treatment for a type of glycogen storage disease. This hour on Where We Live, we hear from the National Organization for Rare Disorders (NORD) on efforts to create a Rare Disease Advisory Council in Connecticut to elevate the voices of residents with rare diseases, something other states have done. We also hear from a UConn researcher, and a father and son living with osteogenesis imperfecta, or brittle bone disease, on the latest treatment and challenges. GUESTS: John D'Alessandro: Diagnosed with osteogenesis imperfecta at age 40 Christian D'Alessandro: Diagnosed with osteogenesis imperfecta at around four weeks Alicia Lawrence: Patient Services Case Manager, National Organization for Rare Disorders (NORD) Amber Barry, RN: Glycogen Storage Disease & Disorders of Hypoglycemia Program at the University of Connecticut Health Center, and Connecticut Children's Medical Center Cat Pastor contributed to this show which originally aired February 23, 2022. Where We Live is available as a podcast on Apple Podcasts, Spotify, Google Podcasts, Stitcher, or wherever you get your podcasts. Subscribe and never miss an episode!Support the show: http://wnpr.org/donateSee omnystudio.com/listener for privacy information.

Dr. Caplan is currently the Drs. William F. and Virginia Connolly Mitty Professor and founding head of the Division of Medical Ethics at NYU Grossman School of Medicine in New York City. Prior to coming to NYU, Dr. Caplan was the Sidney D. Caplan Professor of Bioethics at the University of Pennsylvania Perelman School of Medicine in Philadelphia, where he created the Center for Bioethics and the Department of Medical Ethics. He has also taught at the University of Minnesota, where he founded the Center for Biomedical Ethics; the University of Pittsburgh; and Columbia University. He received his PhD from Columbia University. Dr. Caplan is the author or editor of 35 books and more than 800 papers in peer reviewed journals. His most recent books are Vaccination Ethics and Policy (MIT Press, 2017, with Jason Schwartz) and Getting to Good: Research Integrity in Biomedicine (Springer, 2018, with Barbara Redman). He has served on a number of national and international committees including as chair of the National Cancer Institute Biobanking Ethics Working Group; chair of the Advisory Committee to the United Nations on Human Cloning; and chair of the Advisory Committee to the Department of Health and Human Services on Blood Safety and Availability. He has also served on the Presidential Advisory Committee on Gulf War Illnesses; the Special Advisory Committee to the International Olympic Committee on Genetics and Gene Therapy; the Special Advisory Panel to the National Institutes of Mental Health on Human Experimentation on Vulnerable Subjects; the Wellcome Trust Advisory Panel on Research in Humanitarian Crises; and as the co-director of the Joint Council of Europe/United Nations Study on Trafficking in Organs and Body Parts. Dr. Caplan has served since 2015 as a chair of the Compassionate Use Advisory Committees (CompAC), independent groups of internationally recognized medical experts, bioethicists, and patient representatives that advise Johnson & Johnson's Janssen Pharmaceuticals on requests for compassionate use of its investigational medicines. Dr. Caplan is a regular commentator on bioethics and health care issues for WebMD/Medscape, WGBH radio in Boston, WOR radio in New York City, and CNN. He appears frequently as a guest and commentator on various other national and international media outlets. Dr. Caplan is the recipient of many awards and honors including the McGovern Medal of the American Medical Writers Association and the Franklin Award from the City of Philadelphia. He was a USA Today 2001 “Person of the Year” and was described as one of the ten most influential people in science by Discover magazine in 2008. He has also been honored as one of the fifty most influential people in American health care by Modern Health Care magazine, one of the ten most influential people in America in biotechnology by the National Journal, one of the ten most influential people in the ethics of biotechnology by the editors of Nature Biotechnology, and one of the 100 most influential people in biotechnology by Scientific American magazine. During the COVID-19 pandemic, he is co-directing an advisory group on sports and recreation for the U.S. Conference of Mayors, created a working group on coronavirus vaccine challenge studies, developed an ethical framework for distributing drugs and vaccines for J&J, and helped develop rationing policies for NYU Langone Health and many other health systems. He is a member of the WHO advisory committee on COVID-19, ethics, and experimental drugs/vaccines, and he helped set policy for WIRB/WCG for research studies. He was an adviser to Moderna, Inc., and he serves on the NCAA COVID-19 Medical Advisory Group. Dr. Caplan received the Patricia Price Browne Prize in Biomedical Ethics for 2011. In 2014, he was selected to receive the Public Service Award from the National Science Foundation/National Science Board, which honors individuals and groups that have made substantial contributions to increasing public understanding of science and engineering in the United States. In 2016, the National Organization for Rare Disorders (NORD) honored him with its Rare Impact Award; that year he also received the Food and Drug Law Institute's Distinguished Service Leadership Award and the American Society for Bioethics and Humanities' Lifetime Achievement Award. In 2019, he was honored by the Reagan-Udall Foundation for the FDA with its Innovation Award. Dr. Caplan's faculty page: https://med.nyu.edu/faculty/arthur-l-caplan Dr. Caplan holds seven honorary degrees from colleges and medical schools. Dr. Caplan's electronic long-form (ELF) disclosure statement can be found here: https://bit.ly/3ilyprJ Dr. Caplan's twitter address: https://twitter.com/arthurcaplan?s=21&t=RLCoVC9ZUsFtn5g_mllyxw COI disclosures. https://bit.ly/3eixl7l Working Group on Compassionate Use and Preapproval Access (CUPA) https://med.nyu.edu/departments-institutes/population-health/divisions-sections-centers/medical-ethics/research/working-group-compassionate-use-preapproval-access Vaccine Working Group on Ethics and Policy http://vaccineworkinggroupethics.org/ Working Group on Pediatric Gene Therapy & Medical Ethics https://med.nyu.edu/departments-institutes/population-health/divisions-sections-centers/medical-ethics/research/working-group-pediatric-gene-therapy-medical-ethics Transplant Ethics and Policy https://med.nyu.edu/departments-institutes/population-health/divisions-sections-centers/medical-ethics/research/transplant-ethics-policy  

Welcome to Episode 021 of the Beyond the Diagnosis Podcast. In this episode Kathy talks with 3 of the Association's new Ambassadors about the events they are planning for Awareness Month. Come roll and run into September with us! Let us know what you think! Leave us a review, drop us a comment or share an idea for a future podcast with us at podcast@histio.org. Take a screenshot and tag us @histiocytosis_association on Instagram. We'd love to hear your feedback! Be sure to subscribe so you can be notified the moment a new episode of Beyond the Diagnosis is released. Resources mentioned in the podcast: Resources mentioned in the podcast: - National Organization for Rare Disorders (NORD): www.rarediseases.org - Histiocytosis Association Awareness Info: https://histio.org/get-involved/raise-awareness/ - Histiocytosis Association Fundraising/Awareness Events Info: https://histio.org/get-involved/fundraising-events/ - Hashtags to use for the Bridge to a Cure runs: #histioblueribbonrun #histiorunchallenge #histiocytosisawareness #iknowhistio Music: “Heroes” by Noah Smith

In medical school, when taught about differential diagnoses, students are often taught, "if you hear hoofbeats, think horses, not zebras” says Rebecca Aune, the Director of Education Programs at National Organization for Rare Disorders (NORD).NORD, she says, represents twenty-five million American zebras living with rare diseases every day, many of whom undergo a deeply frustrating and isolating odyssey as they seek an accurate diagnosis. The reasons for this are numerous, Dr. Edward Neilan, the organization's Chief Medical and Scientific Officer, tells host Michael Carrese. But NORD is working to address many of these problems at once, at the level of the patient, the doctor, the research, and the medical system as a whole. Tune in to hear how at 1980s law dramatically increased research into rare disorders, how the human genome project has revolutionized their treatment, and what a future of better diagnostics could look like.Mentioned in this episode: https://rarediseases.org/

One in ten Americans, or one on every elevator and four on every bus, is impacted by a rare disease.  Yet, 95 percent of rare diseases do not have approved treatment. On a promising note, bio-pharmaceutical companies working on orphan drugs have more than 800 projects in clinical development. In a ground-breaking clinical trial, a participating patient at the University of Connecticut Health Center was the first in the world to receive an infusion treatment for a type of glycogen storage disease. This hour on Where We Live, we hear from the National Organization for Rare Disorders (NORD) on efforts to create a Rare Disease Advisory Council in Connecticut to elevate the voices of residents with rare diseases, something other states have done. We also hear from a UConn researcher, and a father and son living with osteogenesis imperfecta, or brittle bone disease, on the latest treatment and challenges. GUESTS: John D'Alessandro: Diagnosed with osteogenesis imperfecta at age 40 Christian D'Alessandro: Diagnosed with osteogenesis imperfecta at around four weeks Alicia Lawrence: Patient Services Case Manager, National Organization for Rare Disorders (NORD) Amber Barry, RN: Glycogen Storage Disease & Disorders of Hypoglycemia Program at the University of Connecticut Health Center, and Connecticut Children's Medical Center Support the show: http://wnpr.org/donate See omnystudio.com/listener for privacy information.

Edward Neilan, MD, PhD, Chief Scientific and Medical Officer at the National Organization for Rare Disorders (NORD), discusses the organization's recently established Rare Disease Centers of Excellence.As Dr. Neilan explains, there were two main goals when establishing a national network of rare disease centers. The first goal was to help rare disease patients find medical centers that have deep and broad expertise and could assist them with their diagnosis or treatment of their disease. The second goal was to enable rare disease experts to work collaboratively, which will hopefully lead to faster progress in terms of diagnoses, treatments, and development of guidelines and new therapies. The application process for the NORD Rare Disease Centers of Excellence was extensive to ensure that each center, among other things, had extensive expertise. Some additional criteria for the selection of these centers included being actively involved in rare disease research, actively training the “next generation” of rare disease clinicians and researchers, and being able to provide care for all ages and assist with the transition for pediatric to adult care. NORD also evaluated if centers were providing education about rare diseases to the public and reaching out to underserved minorities.Dr. Neilan hopes that by establishing this network of centers, it will increase the sharing of information between physicians, which will in turn decrease the need for patients to travel across the country to receive proper care for their rare disease.

One in ten Americans, or one on every elevator and four on every bus, is impacted by a rare disease.  Yet, 95 percent of rare diseases do not have approved treatment. On a promising note, bio-pharmaceutical companies working on orphan drugs have more than 800 projects in clinical development. In a ground-breaking clinical trial, a participating patient at the University of Connecticut Health Center was the first in the world to receive an infusion treatment for a type of glycogen storage disease. This hour on Where We Live, we hear from the National Organization for Rare Disorders (NORD) on efforts to create a Rare Disease Advisory Council in Connecticut to elevate the voices of residents with rare diseases, something other states have done. We also hear from a UConn researcher, and a father and son living with osteogenesis imperfecta, or brittle bone disease, on the latest treatment and challenges. GUESTS: John D'Alessandro: Diagnosed with osteogenesis imperfecta at age 40 Christian D'Alessandro: Diagnosed with osteogenesis imperfecta at around four weeks Alicia Lawrence: Patient Services Case Manager, National Organization for Rare Disorders (NORD) Amber Barry, RN: Glycogen Storage Disease & Disorders of Hypoglycemia Program at the University of Connecticut Health Center, and Connecticut Children's Medical Center Support the show: http://wnpr.org/donate See omnystudio.com/listener for privacy information.

RARE MAMAS RISING- EPISODE 012   The Passion Behind, Behind the Mystery with Co-Creator & Rare Mom Carri Levy & Writer/Producer Brittany Cocilova      Carri Levy had been chasing a diagnosis for her daughter Ilana for years when she found The National Organization for Rare Disorders (NORD) and learned over 7,000 rare diseases exist. Carri's colleague Molly Mager's life was also impacted by a rare disease when her twin brother was diagnosed with Acinar Cell Cystadenoma, a rare pancreatic tumor. On a quest to find a diagnosis for Ilana and bring more awareness to rare diseases, Carri and Molly pitched an idea for a short series on rare and genetic diseases. What started as a six-part series has turned into a recurring segment airing on Lifetime TV's morning show The Balancing Act. Brittany Cocilova joined the show as the writer/producer/director for the series. Her own personal health struggles have enabled her to relate to patients to help them tell their captivating and emotional stories. With over 100 segments to date, Behind the Mystery has been a lighthouse for rare patients and their families, helping them get a diagnosis or learn more about their disease, find specialists, tertiary centers, clinical trials, organizations, community, and more. In this episode of Rare Mamas Rising, Carri and Brittany share their inspiring personal stories, their dedication to making the show, and why they decided to dedicate the 2022 Behind the Mystery Rare Disease Day Special to rare moms. Take a listen and hear the passion behind, Behind the Mystery.      EPISODE HIGHLIGHTS    Carri's story navigating an undiagnosed illness for her daughter Ilana until eventually receiving the diagnoses of primary immune deficiency disease, dysautonomia, and postural orthostatic tachycardia syndrome (POTS)  Carri's continual pursuit of a diagnosis for Ilana's unanswered symptoms   Ilana's book Surviving and Thriving with an Invisible Chronic Illness   Brittany's health struggles including undergoing two kidney transplants   The purpose Brittany's found working on the show  The meaningful reason for creating Behind the Mystery and goals for the show's future  The powerful connections that have been made for rare patients as a result of the show  Collaborations with partners and organizations and their investment into improving the lives of rare patients   Ways patients and caregivers can help spread rare awareness   Advice and learnings for patients and parents navigating a rare disease diagnosis   Highlights from The 2022 Rare Disease Day Special featuring Tracy Dixon Salazar, Caroline Cheung-Yiu, Nikki McIntosh, and The National Organization for Rare Disorders (NORD        LINKS & RESOURCES MENTIONED    Behind the Mystery  TheBalancingAct.com/rare  https://www.instagram.com/behind_the_mystery  https://twitter.com/btmcaresforrare  https://www.linkedin.com/company/behind-the-mystery/      The Balancing Act   https://www.instagram.com/balancingacttv/  https://twitter.com/BalancingActTV  https://www.facebook.com/TheBalancingActFans    Carri Levy  https://www.linkedin.com/in/carrilevy/    Brittany Cocilova  https://www.linkedin.com/in/brittany-cocilova-10503b66/    National Organization for Rare Disorders (NORD)  https://www.rarediseases.org    Surviving & Thriving With An Invisible Chronic Illness   https://www.amazon.com/Surviving-Thriving-Invisible-Chronic-Illness/dp/1626255997/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=1644247747&sr=8-1        CONNECT WITH NIKKI    Facebook  https://www.facebook.com/RareMamas1/  Instagram  https://www.instagram.com/Rare_Mamas/  Website  https://raremamas.com/  Email  info@raremamas.com         

This week, both of our storytellers are navigating rare disease diagnoses and the feelings of fear, uncertainty, and loneliness that can often come along with them. This episode was produced in partnership with the Chan Zuckerberg Initiative's Rare As One Project, which brings together rare disease patient advocates from all over the world, uniting them in their quest for cures and working to lift up their efforts by offering new tools, grants programs, and capacity-building support and training. (For more stories like these, you can also check out the previous episode The Story Collider produced with Rare As One in 2019, as well as our Rare Disease playlist.) Part 1: After her child is finally diagnosed with Hermansky-Pudlak Syndome, Donna Appell set off on a mission to make sure other parents have the information she didn't. Part 2: Feeling unmoored after she's diagnosed with LFS, Jenn Perry attends a patient conference that changes her life. Donna Appell is the mother of two children and her oldest child has Hermansky-Pudlak Syndrome (HPS). Feeling desperate in her attempts to find help, she founded The HPS Network in 1992. Ms. Appell was appointed to the American Thoracic Society's (ATS) Public Advisory Roundtable and has received The ATS Public Service Award and the “Presidential Commendation”. For her work in Puerto Rico, she received the inaugural recognition from the ATS, “Innovations in Health Equality Award”. She was employed for 22 years as a RN in a Critical Care Open Heart ICU. In 2013, Appell and her daughter were chosen as one of 30 Heroes to celebrate the 30th Anniversary of the Orphan Drug Act by the Office of Orphan Product Development at the FDA and the National Organization for Rare Disorders (NORD). In 2019, Appell was honored to be awarded a Rare Impact Award from NORD. Jenn Perry is the President of the Li-Fraumeni Syndrome Association. She is a wife and mom of 2 girls ages 28 and 18. As a LFS patient myself Jenn is relentless in the supporting the LFS community in multiple ways. Jenn loves her horse, and competition partner, Maximus. In addition to riding, she has worked as a business consultant in the QSR industry, and she currently co-owns a Gymnastic & sports facility. Gymnastic was her first love, and she enjoy judging competitive gym at all levels. It is her honor to have the opportunity to speak in front of everyone today, as bringing awareness to this syndrome is so needed, in order to find the cure. Learn more about your ad choices. Visit podcastchoices.com/adchoices

Episodio 1022Hoy charlamos con la neuropediatra María José Mas y con Mencía de Lemus, presidente de FundAME, fundación de la artrofia muscular espinal.Podéis seguir a María José Mas en https://neuropediatra.org/Y la labor de FundAME en https://www.fundame.net/Os invitamos a conocer más sobre la atrofia muscular espinal en la webwww.signostempranosame.es Este podcast está hecho en colaboración con Novartis Gene Therapies.Referencias:1. National Organization for Rare Disorders (NORD). Spinal Muscular Atrophy.http://rarediseases.org/rarediseases/spinal-muscular-atrophy/. Accessed August 08,2021.

A serious heart infection caused by a supposedly rare non-pathogenic bacteria landed me in the hospital for a month. This is my story of how I survived a critical illness. Topics explored: - What is Infective Endocarditis (IE)? - What are the odds of getting IE? - What diagnostic tests did I undergo? - Why you should go to a private hospital for acute events - General tips for protecting yourself and staying healthy Useful links: Infective Endocarditis – National Organization for Rare Disorders (NORD) https://rarediseases.org/rare-diseases/endocarditis-infective/ Heart Valves and Infective Endocarditis – Heart.org https://www.heart.org/en/health-topics/heart-valve-problems-and-disease/heart-valve-problems-and-causes/heart-valves-and-infective-endocarditis Follow the Asia Healthcare Podcast! Website: https://anchor.fm/asiahealthcare Twitter: @jchanpharma Email: asiahealthcarepodcast@gmail.com

In today's rapidly-changing marketing landscape, agile methodologies are increasingly being adopted by marketing teams. In this episode, Lesli Proffitt Nordström of the National Organization for Rare Disorders (NORD) discusses how she uses agile marketing to boost the productivity of her team by over 200%. Check out NORD's websiteEmail LesliConnect with Lesli on LinkedIn

Today's bonus episode is all about Rare Disease Day, which is celebrated on the last day of February each year! So, Happy Rare Disease Day! I go through the history of this special day, what some organizations are doing to celebrate, and how you can participate in this amazing day! Share your story on social media with #RareDiseaseDay and #WearYourStripes! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And be sure to leave a review and let me know what you think of the podcast! Follow me on Instagram: @risforrarepodcast Questions? Email me - risforrarepodcast@gmail.com Anything mentioned in the episode / Resources used in the research for this episode: National Organization for Rare Disorders (NORD) - https://rarediseases.org NORD's Rare Disease Database - https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/ EURORDIS (the NORD's sister organization based in Europe) - https://www.eurordis.org Rare Disease Day website - https://www.rarediseaseday.org Rare Disease Day at the National Institute of Health (NIH) - https://ncats.nih.gov/news/events/rdd Narcolepsy Network - https://narcolepsynetwork.org Our Odyssey - https://ourodyssey.org Global Genes - https://globalgenes.org EveryLife Foundation - https://everylifefoundation.org Huntington's Disease Society of America - https://hdsa.org AllStripes - https://www.allstripes.com The Boomer Esiason Foundation - https://www.esiason.org The Ehlers-Danlos Society - https://www.ehlers-danlos.com Individuals with Disabilities Education Act (IDEA) - https://sites.ed.gov/idea/ Americans with Disabilities Act (ADA) - https://www.dol.gov/general/topic/disability/ada Orphan Drug Act - https://www.fda.gov/industry/designating-orphan-product-drugs-and-biological-products/orphan-drug-act-relevant-excerpts --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

SMA News Today’s multimedia associate, Price Wooldridge, discusses the National Organization for Rare Disorders (NORD) 6th “state report card”, noting progress, but raising concerns. Plus, closing in on a year after the global pandemic emerged DeAnn Runge shares her thoughts on receiving one of the first vaccines available. She also points out seeing societies inequities during vaccine distribution. Are you interested in learning more about spinal muscular atrophy? If so, please visit https://smanewstoday.com/

Pulmonary Fibrosis News Columnist and Forum Moderator Charlene Marshall reads a summarized report of findings, following a survey conducted by the National Organization for Rare Disorders (NORD) on the effectiveness of telehealth amid the COVID-19 pandemic. Majority of patients found telehealth a helpful alternative to in-person care during the pandemic, and hope it will remain an option even when the coronavirus public health emergency ends. Are you interested in learning more about Pulmonary Fibrosis? If so, please visit: https://pulmonaryfibrosisnews.com

A conversation with the public policy team for the National Organization for Rare Disorders (NORD). Topics of discussion will include: Current federal and state legislative priorities for NORD; NORD’s interaction with the Food & Drug Administration, National Institutes of Health and the Center for Medicare & Medicaid Services; Status of issues important to the Mito community, including mandated insurance coverage for medical foods, vitamins and supplements used to treat rare diseases and legislation relating to orphan drugs; How NORD works with families on legislation, including NORD’s legislative priorities as well as issues families bring to NORD; and What patients and families can do to make sure their voices are heard on issues that are important to them. NORD is a non-profit organization which supports individuals with rare diseases through advocacy, education, research grants and networking among service providers. NORD’s Washington, D.C.-based policy team provides a consistent voice for rare disease patients and families on Capitol Hill and beyond. Speakers include Martha Rinker JD, VP of Public Policy, Paul Melmeyer, Assistant Director of Public Policy, and Tim Boyd, Associate Director of Public Policy. Attachments: NORD Supported Legislation 2016 RDD.pdf NORD State Legislative Priorities 2016.pdf About The Speaker Martha Rinker JD is NORD’s Vice President of Public Policy leading the public policy team on matters affecting the rare disease community. Martha is responsible for all Federal and State legislative and regulatory issues and the development and implementation of advocacy strategy and relationships with key stakeholders. Prior to joining NORD, Ms. Rinker was the Chief Advocacy Officer for the American Association of Diabetes Educators (AADE), the Legislative Counsel and Senior Director of Policy, Practice and Advocacy for the American Podiatric Medical Association (APMA) and the Director of Government Relations for the American Orthotic and Prosthetic Association (AOPA). In addition, Ms. Rinker was the Legislative Director for Congresswoman (now Senator) Barbara Mikulski of Maryland and held staff positions with both the Pennsylvania Senate and the Maryland General Assembly. Paul Melmeyer currently serves as the Assistant Director of Public Policy at the National Organization for Rare Disorders. In this role, Paul leads the Federal policy operations in developing and advocating for the enactment and implementation of pro-rare disease patient policy. Prior to joining NORD, Paul held positions with the Center for Amer

The Rare Impact Awards, hosted by the National Organization for Rare Disorders (NORD), take place on Friday October 9th at 7pmEST and will honor music legend Peter Frampton, Ohio Senator Sherrod Brown, and our very own Patrick James Lynch (amongst others)! NORD’s Director of Strategic Planning and Project Development Lisa Sarfaty joins to discuss the event, then Germantown Academy’s legendary basketball coach Jim Fenerty joins to talk about his four-decade long coaching career, his diagnosis, and the rare blood cancer awareness campaign he’s joined.   PRESENTING SPONSOR: Takeda - bit.ly/TakedaBDsite   REGISTER (free) for the Rare Impact Awards - bit.ly/NORDRIA20   VOICES of MPN - bit.ly/VMPN20   VOTE!  Vote.org - bit.ly/VoteOrg20 VOTE!  WhenWeAllVote - bit.ly/BSPWWAV SUBSCRIBE to BloodStream on Apple Podcasts - bit.ly/BSPAP LIKE BloodStream on Facebook - bit.ly/BSFB20 WATCH BloodStream on YouTube - http://bit.ly/BSPYT20

Website/Blog, Twitter, & Instagram HandleInsomniaDoodles.com, @InsomniaDoodles (on Twitter), @theinsomniadoodles (on instagram)Name *Sunshine "Sunny" AmmermanDisorder InfoWhat is your disorder? *Septo-Optic Dysplasia, which is a larger rare diagnosis that encompasses two other rare diagnoses, Panhypopituitarism and Optic Nerve Hypoplasia. I am also missing a membrane in my brain called the "septum pellucidum". At what age did your disorder become a daily issue? *0Who were you before your illness became debilitating? *Just an outdoorsy kid with a big imagination! My symptoms started to become gradually more debilitating in high school, so I didn't really have the chance to do much more than dream about what I thought I wanted my future to be like. My symptoms became unavoidably debilitating when I was in my early 20s.What would you do if you were not dealing with your disorder and/or disability? *I would be getting myself into all kinds of (good) trouble either as a journalist or legislator, more than likely. I would have loved to travel, meet as many different people as possible, and make a difference in some way. I think I have an activist's spirit. Having a rare disease and invisible disability just gave me a clear path to put that enthusiasm to work!What would you like people to know about your daily life? *I have no idea what kind of day I'm going to have until I wake up that day and assess my symptoms and energy levels. I'm a D&D nerd, so I like to compare it to waking up and rolling a D20. Sometimes it's a natural 1, other times it's just fine, but it's hard to make plans ahead of time when you never know what any given day has in store for your body's ability to function. What would make living and moving in the world easier for you? *Breaking the stigma of invisible illnesses and disabilities throughout our society would help tremendously, but practically speaking, as a partially blind person who can not drive due to my low vision, access to reliable, affordable transportation is KEY to my independence. I wanted to take an undergraduate digital art class at Purdue last year, and I lost that opportunity simply because I couldn't find transportation to go to that class, despite having swallowed my pride and asking everyone I could think to ask for help. That was disheartening, but inspired me to put more pressure on local leadership, which led to our previous mayor lovingly calling me "trouble" as a nickname! haha Do you have any life hacks? *Yes, indeed! UTILIZE TECHNOLOGY! Robots are our friends! I have smart speakers in my house that I have scheduled to remind me when to take my meds throughout the day as well as reminding me to take time to exercise or meditate, get ready for bed, and simply to eat lunch. I'm almost 30 years old, and until I started doing this, I had a bad habit of forgetting to take my meds (even though I've been taking them multiple times a day every day since I was 13. oops). Other than my speakers, I use Trello to help keep my tasks in order since its not uncommon for me to experience brain fog and totally forget important things on my mental to-do list. I also rely on my smart watch to help track health data relevant to my care plan. What kind of support do you get from family or friends? *I have been so, so lucky to have a partner who is understanding, patient, and more kind to me than I am to myself sometimes. He has seen me at my absolute lowest points and helped to carry me through it. He is incredible. I'm also super lucky to have friends and family members who understand and are willing to learn about and adapt to my needs. Of course, I've also encountered some family members and acquaintances who have been less than kind to me, and I've experienced some judgement and skepticism that stung, but I've learned over time that you can't win them all, so it's really their loss that they don't get to have me in their life. I don't put up with people like that if I can help it. "ya-yeet" as the kids say these days Have you ever had someone, or a medical professional, not believe you have an invisible illness because of your appearance and if so are there any examples that stand out? *OH BOY DO I. I'll share one experience in particular that is still vividly clear in my memory because I was so livid when it happened. I used to work at Kroger, and I actually loved my job there. I have a great work ethic, and this was before my body put its proverbial foot down and insisted on not working anymore. My bosses loved my gusto, and I'm a people-pleaser so I would often come in on my days off if called and fill in anywhere I was needed. I had been working there for about eight months or so and management hired a new manager, who was unaware of my health issues. When I was hired on initially, I warned the manager who had interviewed me about my potential health problems. I had told him before the interview was even over that I may eventually just not be able to continue working, because that had happened to me in the past at another job. He decided to give me a chance, and so I gave this job everything I had, I was so grateful. Anyway, this new manager came in with no idea about the warning I had given my other boss, and she saw my work ethic and was impressed. She offered me a promotion! I was asked to manage my very own department within the store. When she pitched this idea to me, I was ECSTATIC. I was just so overwhelmed with joy that someone trusted me enough to manage an entire department on my own, so I told her yes without really thinking too much about it. Later on when I had more of a chance to think, I had to acknowledge that lately my symptoms had been getting worse. I had already had an adrenal crisis that put me in the hospital, and a subsequent illness that put me out of commission for a couple of weeks. Since then, my daily symptoms had worsened and I never felt fully recovered. Recognizing the signs that had forced me to leave my previous job, I just didn't think it would be responsible for me to take on a management role by myself. If I had to miss work for any amount of time, my department would suffer, and that would in turn reflect negatively on the entire store. Despite my eagerness to please, I decided to go back into her office the next day (on my day off, mind you) and talk to her about it. I asked if the other manager had told her about my health condition. She said he had not, so I went on to explain what my diagnosis is, and how it affects my body's ability to function. I poured my heart out to her, and told her very personal information that made me feel so vulnerable. Admitting you have limits SUCKS, but I needed her to understand. After I explained it the best way I could, I went on to say that as much as I felt honored that she wanted me to take on this promotion, I thought the store should pick an employee that will be better able to keep up with a management role. She then looked me right in the eyes and said “You know what I think? I think you don't WANT to do it.” I remember standing there in stunned silence for a few seconds. I can still feel the ways my ears and cheeks filled with heat, my hands started to tremble. I wanted to grab her by her skinny ableist neck and shake vigorously, but somehow I managed to keep calm. I am proud of what I said next; “I understand how having an employee who isn't doing what you want them to do might be frustrating for you, but imagine what it's like having a body that doesn't do what you want it to do.” I don't think she really grasped how serious she screwed up, because she had the audacity to ask me again to take the management role. I told her no, and left. I continued to work there for a few months more before my health deteriorated too much to continue, and I faced more discrimination from her, which I can discuss on the show. My co-workers were in my corner, and when they saw the way she was treating me, they stepped in, which was amazing of them. I tear up still thinking back on that. How has your chronic illness affected your relationships? *It caused some strife between my father and I. I still have some painful memories of him blatantly telling me he thought I just wasn't trying hard enough even though I was facing severely debilitating symptoms. We didn't talk for a brief time after that, but he came around eventually and now understands the reality of my situation. Other than that, I have actually been really lucky to have friends and family who are really understanding and still invite me to things even though they understand I might not always be able to come, and they never let me feel guilty for cancelling plans. Is there anything you are afraid to tell people in your life? *Honestly? No, I'm an open book. I used to be shy about sharing the reality of my situation, but when I came to the realization that hiding the truth fuels the stigma faced by the invisible illness community, I couldn't let myself contribute to that anymore. Now, I'm unapologetically open about what I go through. I do want to point out that despite being open, I am careful not to come across as negative or a "complainer". I think it's absolutely possible to share the way our conditions affect us without wallowing in it. Not saying we should dive into toxic positivity and act like it doesn't suck, because it absolutely does sometimes, I just like to make sure people understand I don't want pity, I want understanding. What is your best coping mechanism? *Do naps count? I do enjoy a good old-fashioned nap sometimes. Other than that, I've found that just talking things through with someone who REALLY understands and cares about you is the most healing thing I've ever done for myself. What are you the most concerned about and the most hopeful for in the future? *I'm concerned about healthcare access for people like myself who CAN NOT go without constant medical care. I am personally a big proponent of medicare for all, and seeing insurance coverage for many Americans being put in jeopardy by the current administration has me very concerned indeed. What has me hopeful is the overwhelming support for medicare for all by so many young people, who are indeed the future of this country. I love their enthusiasm! They give me hope for the future. Is there anything you *don't* want to talk about? Is there a subject we should avoid during the interview? Are you ok with having the video released on YouTube under our Invisible Not Broken YouTube channel? *Is there anything you want to make sure we talk about during the interview? Like an organization you want to promote or something specific that you deal with.I want to give a shout out to the National Organization for Rare Disorders (NORD) and their Rare Action Network (RAN). I am the Community Engagement Liaison for the Indiana branch of RAN, and it would be awesome if I could share our contact info so people can reach out and learn more! Also, I was JUST informed that NORD is about to start their own official podcast called "NORDpod", and it would be really cool if I could announce that during the interview as well, but I totally understand if you would rather not promote another podcast. :) Other than that, I would love to mention the weekly support group I host for invisible illnesses and disabilities! It's called "positively invisible" and we meet in virtual reality on a platform called "Altspace" every Sunday at 7pm EST. As the title suggests, we approach life with invisible conditions with a more positive outlook, but without giving in to toxic positivity. We just come together to check in, support one another, and set small attainable weekly goals to help keep us motivated. We also have a discord server where we can chat between meetups, and I post links to upcoming events. I also need to give a shoutout to my zebra sister Katrina for introducing me to this podcast last year. I love it.

Welcome to NORDpod™, the voice of rare disease and the official podcast of The National Organization of Rare Disorders (NORD®), a 501(c)(3) patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. We are one community, and, together, our voices are louder. Learn more about NORD at http://RareDiseases.org

The Rare Action Network (RAN), powered by the National Organization for Rare Disorders (NORD), is a grassroots advocacy effort that serves to connect and empower a unified network of individuals and organizations with tools, training and resources to become effective advocates for rare diseases through national and state based initiatives across the United States. A rare disease is defined as one that affects less than 200,000 people and there are currently more than 7,000 rare diseases known to exist. With rare diseases, affecting 25-30 million Americans, RAN and NORD stand for equitable access to timely diagnosis, treatment and care for every person impacted by a rare disease. In this episode we learn about RAN from Cure CMD community member and RAN state ambassador for Ohio, Charlene York, as well as from RAN Grassroots Advocacy Manager, Rose Avellino. Find RAN online at: www.rareaction.org Find Two Rare Mama Bears on Facebook, Instagram & Twitter: 2raremamabears

Over the past decade, genetic testing has moved beyond the setting of the research laboratory and is routinely offered in specialized medical genetics clinics and physician offices to identify the genetic cause of disease and predisposition to a genetic condition. There are also direct to consumer DNA testing kits that can reveal information regarding ancestry, risk to specific diseases, and even paternity. How is genetic testing using these commercial genetic kits different from genetic testing done at the clinic or doctor’s office? How useful are the results? We’ll discuss these issues and more on our program with guest expert: Dorota Gruber, DHSc, MS, assistant professor of pediatrics and cardiology, Zucker School of Medicine, assistant chief of pediatric cardiogenomics, Cohen Children’s Medical Center, and assistant investigator, pediatric human genetics at the Robert S. Boas Center for Genomics and Human Genetics at the Feinstein Institute for Medical Research. Resources: Medical Genetics and Human Genomics, Northwell Health 516-918-4800 Center for Cancer Prevention and Wellness, Northwell Health 516-918-4800 Cardiogenomics Program – Pediatrics 516-918-4800; Adults 516-562-4100 or email cardiogenomics@northwell.edu National Society of Genetic Counseling – to find GC near you https://www.nsgc.org/ Genetic Alliance National Organization for Rare Disorders (NORD) https://rarediseases.org/organizations/genetic-alliance/ Genetic Information Nondiscrimination Act of 2008-National Human Genome Research Institute https://www.genome.gov/24519851/genetic-information-nondiscrimination-act-of-2008 Genetics Home Reference-NIH U.S. National Library of Medicine https://ghr.nlm.nih.gov/ GeneReviews® – NCBI Bookshelf https://www.ncbi.nlm.nih.gov/books/NBK1116/

"Rare is not rare" - Swapna Kakani Swapna Kakani (@swapnaspeaks) is a professional keynote speaker and advocate in the area of healthcare delivery and the patient experience. Her inspirational life story, of being born with Short Bowel Syndrome, requiring IV nutrition through a central venous catheter for 29 years and counting, nutrition through a feeding tube for 20 years, and enduring 65 surgeries including a small intestine transplant. Her story shows audiences her individual resilience and self-determination in the face of constant difficulties, as well as the impact of her healthcare advocacy across disciplines. Swapna through her platform, Swapna Speaks, has given several presentations across the U.S. through medical conferences, hospitals, medical schools/residencies, graduation ceremonies, and corporate events, including giving a TEDx talk, performing live for The Moth, and speaking for Fortune 500 companies and Pharmaceutical companies. Swapna, in addition does healthcare advocacy work both at the federal and state level for the Short Bowel Syndrome/Intestinal Failure and broader rare disease community. She has been part of various projects to improve care and maintenance of central venous access devices (CVAD) and part of regulation changes to improve the patient experience of IV nutrition consumers.  In 2017, Swapna worked in Washington D.C. for the National Organization for Rare Disorders (NORD) researching federal and state health policies and advocating on Capitol Hill to ultimately expand care for individuals with rare diseases. Also, in 2017, back in Alabama, Swapna noticing a disconnect in her home state in regard to rare disease care, and created Alabama Rare. It is a grassroots coalition to unite the state around the rare disease population. It acts to bring support for individuals & families, educate the broader community, bring awareness to the population’s needs, and advocate for necessary change.    Swapna, originally from Huntsville, AL, received her bachelors in Psychology from the University of Alabama at Birmingham (UAB) in 2013 and is currently back at UAB working on her Masters in Public Health.  * * * Show Notes:  Ted Talk: How I Found My Purpose In My Disease  Book Suggestions: Checklist Manifesto by Atul Gawande Others Suggestions: Toastmasters 

"Alone we are rare. Together we are strong." -National Organization for Rare Disorders In this episode we are joined by Paul Melmeyer, Associate Director of Policy at the National Organization for Rare Disorders (NORD). Among other things, Paul is the main lobbyist of NORD and visits Capitol Hill often, frequently meeting with the FDA, Medicaid, Medicare, and other federal services that impact those affected with rare diseases. NORD’s goal is to be a one-stop shop, offering aid to those facing the challenges of a rare disease. One of the benefits of NORD in particular, and in the entire rare disease community, is the strength of collaboration. That with the same goal in mind - helping with the challenge of rare disease - the collaboration of the entire rare disease community is probably its greatest strength. As more and more people become more and more involved in advocacy within the rare disease community, it’s exciting to picture the progress that can be made 5, 10, 15 years in the future.   Paul tells us about the motivation and dedication of the "intrepid mom's" who founded NORD over 34 years ago. He says that the main reason NORD has been effective for so long is because it tries to be “the voice of those with disabilities.” He credits much of NORD’s success to relationship-building with other entities in the rare disease community.   As the U.S. sponsor of Rare Disease Day which began in Europe in 2008, NORD has played a vital role in raising awareness and continued support, in many different facets, for the entire rare disease community.   For more information on NORD, please visit: www.rarediseases.org For information on Rare Disease Day, please visit: www.rarediseaseday.org

In the rare disease community, strength is in unity and supporting one another. February 28th is globally recognized as Rare Disease Day. Since Friedreich's ataxia, the disease shared by us  Dudes, is considered a rare disease, five episodes will come out in February, instead of one episode every other week, as normal. We explain what is meant by “rare diseases” and how rare they really are. This episode contains snippets of three interviews that will be released in their entirety later in the month. Nicole Boice, the CEO of Global Genes, speaks about the importance of knowledge in the rare disease community; only by knowing all we can about whatever disorder we may face can we successfully move forward. In the second snippet, Max Bronstein of the Everylife Foundation for Rare Diseases reminds us of the importance of policy issues when seeking treatments for rare diseases. Finally Paul Melmeyer from the National Organization of Rare Disorders (NORD) emphasizes the benefits of recognizing Rare Disease Day, and what that has done for the rare disease community overall. On February 27, the day before Rare Disease Day, our interview with Ron Bartek, the president and cofounder of the Friedreich's Ataxia Research Alliance, will be released. The Two Disabled Dudes invite you to help us spread awareness this month.

In the rare disease community, strength is in unity and supporting one another. Image courtesy of debra February 28th is globally recognized as Rare Disease Day. Since Friedreich’s ataxia (FA), the disease shared by us Dudes, is considered a rare disease, five episodes will come out in February, instead of one episode every other week, as normal.   In this episode we talk about what is meant by “rare diseases” and how rare they really are. This episode contains snippets of three interviews that will be released in their entirety later in the month. Nicole Boice, the CEO of Global Genes, speaks about the importance of knowledge in the rare disease community; only by knowing all we can about whatever disorder we may face can we successfully move forward. In the second snippet, Max Bronstein of the Everylife Foundation for Rare Diseases reminds us of the importance of policy issues when seeking treatments for rare diseases. Finally Paul Melmeyer from the National Organization of Rare Disorders (NORD) emphasizes the benefits of recognizing Rare Disease Day, and what that has done for the rare disease community overall.   On February 27, the day before Rare Disease Day, our interview with Ron Bartek, President and co-founder of the Friedreich’s Ataxia Research Alliance, will be released.   The Two Disabled Dudes invite you to help us spread awareness this month.   Organizations Highlighted in This Episode:   Global Genes - globalgenes.org   EveryLife Foundation for Rare Diseases - everylifefoundation.org   National Organization for Rare Disorders - rarediseases.org   Friedreich's Ataxia Research Alliance (FARA) - curefa.org

Please join MitoAction this month for a conversation with the public policy team for the National Organization for Rare Disorders (NORD).

The Launch of NORD Founder, Abbey Meyers' memoir "Orphan Drugs: A Global Crusade" Mark speaks with Abbey Meyers, founder and past President of the National Organization for Rare Disorders (NORD), about the launch of her new book Orphan Drugs: A Global Crusade. Ms. Meyers opens up about the struggles she had in getting a proper diagnosis for her son, who was eventually diagnosed with Tourette’s syndrome, followed by additional struggles to get treatment option that was safe and effective. The talks about her unwavering efforts that ultimately supported the enactment of the groundbreaking “Orphan Drug Act of 1983” Among her many accomplishments, Ms. Meyers served as the consumer representative on the National Commission on Orphan Diseases (1986-89), the NIH Human Gene Therapy Subcommittee, the NIH Recombinant DNA Advisory Committee (RAC), the FDA Biological Response Modifiers Committee, and the HHS National Human Research Protections Advisory Committee. She was also an Honorary President of the European Organization for Rare Disorders (EURORDIS) and currently hold the honorary title of President Emeritus of NORD. Ms. Meyers asserts to Mark, "One day, I wish everyone dealing with the pain and misery of the 7,000 rare disorders will have access to a treatment that will alleviate their symptoms.”

The Launch of NORD Founder, Abbey Meyers' memoir "Orphan Drugs: A Global Crusade"Mark speaks with Abbey Meyers, founder and past President of the National Organization for Rare Disorders (NORD), about the launch of her new book Orphan Drugs: A Global Crusade. Ms. Meyers opens up about the struggles she had in getting a proper diagnosis for her son, who was eventually diagnosed with Tourette’s syndrome, followed by additional struggles to get treatment option that was safe and effective. The talks about her unwavering efforts that ultimately supported the enactment of the groundbreaking “Orphan Drug Act of 1983”Among her many accomplishments, Ms. Meyers served as the consumer representative on the National Commission on Orphan Diseases (1986-89), the NIH Human Gene Therapy Subcommittee, the NIH Recombinant DNA Advisory Committee (RAC), the FDA Biological Response Modifiers Committee, and the HHS National Human Research Protections Advisory Committee. She was also an Honorary President of the European Organization for Rare Disorders (EURORDIS) and currently hold the honorary title of President Emeritus of NORD.Ms. Meyers asserts to Mark, "One day, I wish everyone dealing with the pain and misery of the 7,000 rare disorders will have access to a treatment that will alleviate their symptoms.”

The Launch of NORD Founder, Abbey Meyers' memoir "Orphan Drugs: A Global Crusade" Mark speaks with Abbey Meyers, founder and past President of the National Organization for Rare Disorders (NORD), about the launch of her new book Orphan Drugs: A Global Crusade. Ms. Meyers opens up about the struggles she had in getting a proper diagnosis for her son, who was eventually diagnosed with Tourette’s syndrome, followed by additional struggles to get treatment option that was safe and effective. The talks about her unwavering efforts that ultimately supported the enactment of the groundbreaking “Orphan Drug Act of 1983” Among her many accomplishments, Ms. Meyers served as the consumer representative on the National Commission on Orphan Diseases (1986-89), the NIH Human Gene Therapy Subcommittee, the NIH Recombinant DNA Advisory Committee (RAC), the FDA Biological Response Modifiers Committee, and the HHS National Human Research Protections Advisory Committee. She was also an Honorary President of the European Organization for Rare Disorders (EURORDIS) and currently hold the honorary title of President Emeritus of NORD. Ms. Meyers asserts to Mark, "One day, I wish everyone dealing with the pain and misery of the 7,000 rare disorders will have access to a treatment that will alleviate their symptoms.”

The Launch of NORD Founder, Abbey Meyers' memoir "Orphan Drugs: A Global Crusade"Mark speaks with Abbey Meyers, founder and past President of the National Organization for Rare Disorders (NORD), about the launch of her new book Orphan Drugs: A Global Crusade. Ms. Meyers opens up about the struggles she had in getting a proper diagnosis for her son, who was eventually diagnosed with Tourette’s syndrome, followed by additional struggles to get treatment option that was safe and effective. The talks about her unwavering efforts that ultimately supported the enactment of the groundbreaking “Orphan Drug Act of 1983”Among her many accomplishments, Ms. Meyers served as the consumer representative on the National Commission on Orphan Diseases (1986-89), the NIH Human Gene Therapy Subcommittee, the NIH Recombinant DNA Advisory Committee (RAC), the FDA Biological Response Modifiers Committee, and the HHS National Human Research Protections Advisory Committee. She was also an Honorary President of the European Organization for Rare Disorders (EURORDIS) and currently hold the honorary title of President Emeritus of NORD.Ms. Meyers asserts to Mark, "One day, I wish everyone dealing with the pain and misery of the 7,000 rare disorders will have access to a treatment that will alleviate their symptoms.”