RARING

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.

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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.

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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.

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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.

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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.

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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.

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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.

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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 [email protected] with comments or feedback.

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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.

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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.

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