22 JUN 2022 · Today on NORDpod, Andrew MacDowell stands in for Matthew Zachary, and he welcomes https://www.cuimc.columbia.edu/pulmonary/faculty-and-staff/kathleen-donohue-md, Director of the https://www.fda.gov/about-fda/center-drug-evaluation-and-research-cder/office-rare-diseases-pediatrics-urologic-and-reproductive-medicine-division-rare-diseases-and. 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.

8 JUN 2022 · You're in for a treat on today's episode of NORDpod as I welcome chronic illness advocate https://www.instagram.com/unmindependencestate/ to the show. Since the age of 11, Sarah has been managing a condition known as https://joankaylor.com/2020/10/sarah-pennington/, 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.

25 MAY 2022 · https://www.linkedin.com/in/roblong47/ is the Executive Director at https://www.upliftingathletes.org, 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 https://rarediseases.org/rare-diseases/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 https://rarediseases.org/. 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.

11 MAY 2022 · https://www.youtube.com/user/IAmBobbyFosterr 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 https://rarediseases.org/. 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.

20 APR 2022 · Today on NORDpod, https://www.matthewzachary.com welcomes Phillip Bright, a senior at The University of Kentucky diagnosed with https://curehht.org) 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 https://rarediseases.org. 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.

13 APR 2022 · https://www.cincinnatichildrens.org/bio/h/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 https://rarediseases.org. 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.

30 MAR 2022 · https://www.tscalliance.org/our-team/kari-luther-rosbeck/ is the President & Chief Executive Officer of the https://www.tscalliance.org/, a nonprofit whose mission is to find a cure for https://www.tscalliance.org/about-tsc/what-is-tsc/ (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 ofhttps://rarediseases.org. 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.

16 MAR 2022 · https://www.linkedin.com/in/christopher-anselmo-31aa2a7/ 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 http://www.sidewalksandstairwells.com/ 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 https://rarediseases.org/. 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.

25 FEB 2022 · Welcome to Season Four of NORDpod, the voice of rare disease. Kicking off 2022, and in recognition of https://www.rarediseaseday.org/, we are proud to welcome actor and social media influencer https://www.tiktok.com/@realadamrose?lang=en. 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 https://www.hopkinsmedicine.org/health/conditions-and-diseases/gaucher-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 https://rarediseases.org/. 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.

22 DEC 2021 · On the show today, we welcome https://rarediseases.org/nord-welcomes-edward-neilan-md-phd-as-chief-medical-and-scientific-officer/ 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 (https://c-path.org) 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.