RARING

Today on NORDpod, Andrew MacDowell stands in for Matthew Zachary, and he welcomes Dr. Kathleen Donohue, Director of the Division of Rare Diseases and Medical Genetics, at the FDA’s Office of New Drugs. Over 350 million people worldwide have a rare disease, yet only 10% of rare diseases have an FDA-approved treatment. Dr. Donohue oversees the national hub designed to move the needle on that statistic, providing a shared pool of resources to spark new discoveries and speed up the creation of new therapies for rare diseases. Listen for the subtle sounds of the wild thunderstorm that rolls in during their taping as they talk through the critical role patient advocacy groups play in bringing rare disease patients into making these discoveries happen. Learn about the RDCA-DAP: the all-important central repository of shared data about rare diseases, with a very alphabet-soupy name. They also cover the powerful need for advocacy groups to ensure the data they collect from patients is gathered in a way that makes it possible for them to submit it to RDCA- DAP. NORDpod is the official podcast of the National Organization for Rare Disorders. For more information, email nordpod@rarediseases.org and visit https://rarediseases.org. RDCA-DAP® is fully funded with a federal grant awarded to the Critical Path Institute: www.c-path.org/fda-acknowledgement. https://c-path.org/fda-acknowledgement.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

You're in for a treat on today's episode of NORDpod as I welcome chronic illness advocate Sarah Pennington to the show. Since the age of 11, Sarah has been managing a condition known as Trichotillomania, a disorder that involves recurrent, irresistible urges to pull out body hair. An estimated 330,000 children in the US alone may face Trichotillomania in their early tween/teenage years, a time in your life that may be challenging enough on its own. Sarah decided to do something by taking ownership of her condition, and, after many years of depression and suicidal thoughts, coupled with months in a residential treatment program. The moment she decided to take off her wig instantly transformed her into a vessel for purpose and impact. And so, she has taken on a new challenge: beauty pageants. So prepare yourself for a profoundly inspiring conversation about perseverance, motivation, and how to pay it forward. Enjoy the show.NORDpod is the official podcast of the National Organization for Rare Disorders. For more information, visit https://rarediseases.org or email nordpod@rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Rob Long is the Executive Director at Uplifting Athletes, a nonprofit organization that inspires the rare disease community with hope through the power of sport. In 1020, as a Pre-Season All-American playing for the Syracuse Orange Football team, he was contemplating which NFL team he wanted to be on. Until he was diagnosed out of the blue with a Grade III Anaplastic Astrocytoma, a rare form of pediatric brain cancer. Eleven years later, he's paying it forward, raising money and awareness for needed rare disease research. He joined Matthew Zachary for a candid conversation about the terrible privilege of surviving cancer, and, as a fellow SUNY Alum, they heavily bond over their mutual love of Wegmans. NORDpod is the official podcast of The National Organization for Rare Disorders. For more information, contact nordpod@rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Bobby Foster is a content creator, a rapper/producer, a spoken word poet, and a certified life coach who was diagnosed with cystic fibrosis at birth. He graduated with a degree in creative writing from the University of Central Florida. Bobby is currently on a path to bring awareness and change through music. NORDpod is the official podcast of The National Organization for Rare Disorders. For more information, contact nordpod@rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Today on NORDpod, Matthew Zachary welcomes Phillip Bright, a senior at The University of Kentucky diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT) at a very young age and has lived an accelerated life facing this rare condition. HHT is a congenital dominant hereditary disorder in which some blood vessels do not develop properly. Phil subsequently lived with a small pulmonary arteriovenous malformation in my lung. As a rare disease patient, he decided to give back to the community and pursue a career in medicine. As of this taping, Phil was recently accepted to Medical School and is looking ahead to a lifetime of critical clinical research to improve the lives of patients like him. NORDpod is the official podcast of the National Organization for Rare Disorders. For more information, email nordpod@rarediseases.org and visit https://rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Dr. Adrienne Hammill is Research Director of the Hemangioma & Vascular Malformation Program and Director of the HHT Center of Excellence at Cincinnati Children's Hospital. Her path to becoming a physician started when she was eight years old when she read an article about retinoblastoma, which is cancer with a genetic cause. She decided then that she wanted to cure cancer. She joins Matthew Zachary to discuss a rare condition known as Hereditary Hemorrhagic Telangiectasia (HHT) and the differences in pediatric and adult care with specific regard to screenings and early detection. NORDpod is the official podcast of The National Organization for Rare Disorders. For more information, contact nordpod@rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Kari Luther Rosbeck is the President & Chief Executive Officer of the TSC Alliance, a nonprofit whose mission is to find a cure for Tuberous Sclerosis Complex (TSC) while improving the lives of those affected. Kari began her life as a Theater nerd and started her own company in NYC after graduating from SUNY Albany. Tragedy struck when she lost her newborn to SIDS. Today she leads an incredible team and fights for equity and quality of life of tens of thousands of patients impacted by this rare genetic condition. Aside from nerding out on all things Sondheim, she and host Matthew Zachary also dive into the "How a bill becomes a law" process of drug development. There's nothing quite like getting a drug approved that you know will actually make a dent in the universe for thousands of people. Enjoy the show.NORDpod is the official podcast of The National Organization for Rare Disorders. For more information visit https://rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Chris Anselmo is the Director of Market Intelligence at the Muscular Dystrophy Association but he never envisioned becoming an advocate for a disease he never thought he'd get. After a car crash found him in the hospital on the receiving end of a random diagnosis of having extremely high creatine kinase levels, he was soon after diagnosed with Dysferlinopathy, specifically, Limb-Girdle muscular dystrophy, a rare muscle-weakening disease. No one asks to get sick but he went beast mode as a prolific blogger sharing his story and documenting the very real issues he had facing isolation, depression, anxiety, and a desire to make a difference for others like him.NORDpod is the official podcast of the National Organization for Rare Disorders. For more information, visit https://rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Welcome to Season Four of NORDpod, the voice of rare disease. Kicking off 2022, and in recognition of Rare Disease Day, we are proud to welcome actor and social media influencer Adam Rose. Adam has amassed a considerable fan base by creating relatable, entertaining, and insightful video segments on TikTok, often sporting a blue cardigan. He is also a rare disease patient, advocate, and activist sharing his story about living with Gaucher’s Disease.Rare Disease Day is committed to raising awareness for the community. This annual commemoration is focused on the theme of health equity. Part of health care inequity involves a lack of access to an accurate and timely diagnosis, treatment, and information about your disease. By raising awareness and showing your stripes, you can help improve the visibility of rare diseases.NORDpod is the official podcast of the National Organization for Rare Disorders. For more information, visit https://rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

On the show today, we welcome Dr. Edward Neilan, NORD's own Chief Medical and Scientific Officer. In this role, Ed oversees medical and research initiatives, including the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) program that NORD established in partnership with FDA and the Critical Path Institute (C-Path) He carries a unique perspective as a physician and researcher and would like to focus this episode of NORDpod on the value of data sharing from a clinician’s perspective (which was also the topic he spoke about during the virtual 2021 RDCA- DAP Annual Workshop). Patient participation in the RCDA-DAP programs is a "pay it forward" opportunity to advance critical research and you're going to learn how you – yes you the listener – can choose to take an active role in this really important advocacy. NORDpod is the official podcast of the National Organization for Rare Disorders. For more information, visit www.rarediseases.org.*RDCA-DAP® is fully funded with a federal grant awarded to the Critical Path Institute: www.c-path.org/fda-acknowledgement.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Today’s extra-long, extra-special BONUS episode is brought to you from the 2021 NORD Breakthrough Summit. Every year, NORD hosts its flagship conference in October to discuss what’s new, relevant, and on the horizon in the rare disease space. The session we’re featuring is “Designing Trials for Inclusivity, Equity, and Engagement,” The discussion addresses health care inequities and what we can do to create clinical trials that are more representative of and beneficial for the community. We hope you enjoy it, and if you get inspired to learn more about the event behind this episode, visit nordsummit.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Chris Brannigan, a major in the British Army, took off his boots for a 1,200-mile barefoot walk down the eastern seaboard of the United States in an effort to raise funds for the creation of a gene therapy treatment that could help patients like his daughter Hasti, battling Cornelia de Lange Syndrome (CdLS ). The NORD community is so proud of Chris and what he was able to accomplish in raising awareness for the 30 million Americans living with a rare disease and the importance of research. You can continue to follow Hope for Hasti’s mission by visiting their website at https://www.hopeforhasti.org. NORDPod is the official podcast of the National Organization for Rare Disorders. For more information visit https://rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

On the show today, Kam Redlawsk is a designer, illustrator, writer, and disability advocate. After five years of being consistently misdiagnosed and not taken seriously, she was diagnosed correctly with a condition called GNE Myopathy, which is a very, very rare degenerative muscle wasting disorder. There's so much to unpack about her that can only be explained by hearing her story and understanding the journey she's undertaken. I'm not too fond of cat poster slogans, but she does make lemonade from her lemons. She has an extraordinary story, has written incredible pieces, and her Instagram will blow your mind. Kam is the very definition of what it means to be an advocate; when no one expects to become one, and they're thrust into the world of rare disease. And now she's giving back and inspiring hundreds of thousands of people. Enjoy the show.For more information about Kam, visit https://www.kamredlawsk.com.NORDpod is the official podcast of the National Organization for Rare Disorders. More at https://rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Joining me today is Lewis Freese, an incredible young man fresh off the heels of being diagnosed with a rare disease during the pandemic, no less. (I mean, not that there's ever a good time for this to happen but COME ON!) The condition is called IGA Vasculitis and typically affects 2 in 100,000 children each year. As a college student, this threw everyone for a loop, and now Lewis has to spend the rest of his life managing chronic kidney disease, among other fabulous things. He is a genuinely authentic voice for our next great generation. He advocates not just for rare disease awareness but for inclusivity, speaking out as a vocal member of the LGBTQ community. With all that said, we've got a ton of stuff in common and bonded in real-time over the very meaning of advocacy, never accepting the status quo and living life to help others. Follow Lewis on Instagram at https://instagram.com/lewisfreese1.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

On the show today, Aprill Lane is a mother of five and rare disease and infertility advocate — and you do not want to mess with her. She and her husband, Brian, tried to have a baby on their own for 4½ years until they were diagnosed with unexplained infertility. Endless cycles and tens of thousands of dollars later, they are now the proud parents of five beautiful children, one of whom — Mark —was born with a rare genetic condition. So join us as we examine what it means to be your own advocate, along with the challenges families face with fertility while raising a child with a rare disease. NORDPod is the official podcast of the National Organization for Rare Disorders. For more information visit https://rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

In celebration and recognition of Rare Cancer Day, I had the pleasure of speaking with Dan “Dry Dock” Shockley. Dan is a retired Navy, Operation Desert Storm; Enduring and Iraqi Freedom veteran and hereditary colon cancer warrior. After his initial colonoscopy, he was recommended for a genetic panel, passed along to specialists, was diagnosed and treated (surgically) for AFAP/hereditary colon cancer all within a two-month span. Since then, Dan has worked alongside leading researchers/clinicians in the field to provide a patient’s perspective as well as raise awareness for rare cancers, destigmatize ostomy bags, and lead a high quality of life as someone living with this condition. In this episode, we explore the positive impact that having access to a quick diagnosis, trained physicians, and ongoing treatment/testing can have on rare cancers. NORDPod is the official podcast of the National Organization for Rare Disorders. For more information visit https://rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Kicking off Season 3 of NORDpod, I am joined by Karina Sturm, a disabled journalist, blogger, author, and filmmaker who tries to connect with chronically ill people around the world and spread the word about Ehlers-Danios Syndrome and other chronic illnesses. From giving up her job as a research associate in 2010 to cashing out her life savings to come to the US for better care, Karina has managed to adapt her life around her symptoms and is the accidental advocate you need to hear to know. Through a necessary pivot to journalism, Karina is now one of the most vocal rare disease activists around, and her blog, "Holy Shit I Am Sick," is read by thousands. Her must-watch film, "We Are Visible," is so multi-award-winning and critically acclaimed, there's an endless scroll of credits on the homepage. This is how you advocate. Enjoy our conversation.NORDpod is the official podcast of the National Organization for Rare Disorders (NORD®) For more information, visit https://rarediseases.org and email nordpod@rarediseases.org with comments or feedback.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

On the show today, Nick Kirchhof, a volunteer state ambassador in Colorado and member of the newly established Policy Steering Committee for NORD's Rare Action Network. Nick and his wife were welcomed into the club no one asks to join when their daughter Hayden was diagnosed with an extremely rare condition known as Cystinosis. In navigating these new waters, they found NORD and the Cystinosis Research Foundation, which offered up much-needed peer support and resources. Hayden's future is bright these days, and Scott has channeled his Soccer Coach instincts with his Father's lobbying skills into becoming an outspoken patient advocate and storyteller at the legislative level. Now he is paying it forward with many others who are part of NORD's Rare Action Network. Policy is the end game because that is what unites the rare community with systemic changes that can make all of our lives better en masse. Enjoy our conversation.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

On the show today, it's all about Rare Disease Advisory Councils – or RDACs, for short. RDACs provide a platform for the rare community to have a stronger voice in state government. Joining us is NORD Director of Policy Heidi Ross, your one-stop human shop to understanding what these councils are, and how you – the listener – can take an active role in local policy changes. Long story short, RDACs can make a significant impact in your state, and you can contribute to that voice with resources from NORD's Project RDAC. NOTE: Sitting in for Matthew Zachary today is OffScrip Media Co-Founder and Chief Operating Officer Andrew MacDowell. For more information about NORD visit https://rarediseases.org.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

Today on NORDpod, we welcome back Lesli Nordstrom, Director of Marketing and communications at NORD. As returning champion to the show, she’s back to get real about the rare disease community with reflection on the past 18 months. The pandemic’s impact cannot be understated. Millions of lives have been uprooted as we mourn the deaths of hundreds of thousands. But our shared pain and suffering are what make us stronger together. Lesli and Matthew also discuss the unique challenges facing the nonprofit sector and the medical profession in the wake of life being turned upside down. They acknowledge NORD’s role in confronting the crisis head-on by implementing new support programs, financial aid systems, and incubation grants to startup charities in the space.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.