Podcasts about rare disease week

In this special episode of the #BeyondHAE podcast, we hear from three passionate young advocates, Zach, Angel, and Arabel who took their voices to Capitol Hill during the EveryLife Foundation's Rare Disease Week events. Representing the HAEA community, they met with legislators to push for policies that improve the lives of people with rare diseases and their families.Tune in as they share their experiences from the event, discuss the importance of Rare Disease Day, and break down the key issues they advocated for. They'll also explore ways that you, no matter where you are, can get involved in rare disease advocacy from home.Join us for an inspiring conversation about the power of young advocates, the policies that matter, and the impact they hope to make for the HAE and rare disease community!This youth produced podcast is brought to you thanks to the support of the Hereditary Angioedema Association, a patient advocacy organization serving the needs of the HAE patient and caregiver community. To learn more about the HAEA and access our incredible support network, visit, ⁠⁠⁠www.haea.org⁠⁠⁠.Thank you to our sponsors, ⁠⁠⁠⁠⁠⁠⁠KalVista⁠⁠⁠⁠⁠⁠⁠ and ⁠⁠⁠⁠Pharvaris⁠⁠⁠⁠.

In this month's episode of the HAE Speaks Podcast, we hear from Craig, a person with HAE, and his wife and caregiver, Melissa. They reflect on their powerful experiences during Rare Disease Week in Washington, D.C.Tune in to hear how their partnership, perseverance, and passion are helping to raise awareness, influence change, and bring the voice of the HAE community to policymakers on Capitol Hill. 

It's a recap of a HUGE week in Washington, DC…Rare Disease Week! Our own Lexi Levine attended for JGA and gives us a full recap, what it is, what it does, new news on BIG headlines and how you can help too! 

Former show producer Lindsay Guentzel joins Chad to update us on her life and health, traveling to Washington DC for meetings during Rare Disease Week, and hope of entering a clinical trial and what that could mean for her future.

Mark Freie joins Chad and Dave for some fun with Overrated, Underrated or Properly Rated before we catching up with our friend Lindsay Guentzel for an update on her health and experience in Washington DC for meetings during Rare Disease Week.

Trisomy Awareness Month & Women's History Month Sarita Edwards, the host of the Being Rare Podcast, welcomes listeners to a special episode dedicated to Trisomy Awareness Month and Women's History Month. She shares the significance of March as a month to raise awareness about Trisomy conditions, particularly Trisomy 18, and highlights the theme of Women's History Month: Women Who Advocate for Equity, Diversity, and Inclusion. Learn more: theewefoundation.org/awareness Segment 1: Elijah News In this segment, Sarita shares an update on Elijah, her son diagnosed with Trisomy 18, who recently received new leg braces. She reflects on the challenges faced in obtaining appropriate orthopedic support for Elijah and expresses gratitude to A Step Ahead Orthotics for their assistance. Contact A Step Ahead at 256-534-0024, ask for AJ Algiers, CPO, LPO and tell him Elijah sent you! Segment 2: Legislative Priorities Sarita discusses legislative priorities related to rare diseases, focusing on the Zachary Thomas Newborn Screening Act HB 77, which aims to improve newborn screening processes in Alabama. She highlights the collaborative efforts of advocates, healthcare professionals, and policymakers in advancing rare disease legislation. Sarita also reflects on her participation in Rare Disease Week on Capitol Hill and the historic White House Rare Disease Forum. Learn more about newborn screening: theewefoundation.org/newbornscreening. Find the official White House readout and watch the livestream: theewefoundation.org/rarediseaseday Segment 3: E.WE Foundation News Listeners learn about upcoming initiatives from the E.WE Foundation, including the Health Equity Community Workshop led by Vivian Duong, an MPH student. Sarita announces the launch of a Trisomy 18 Newborn Screening research survey to address the challenges faced by families seeking newborn screening for rare conditions like Trisomy 18. Register for the Health Equity Community Workshop: theewefoundation.org/registration Segment 4: Special Guest on Upcoming Episode Sarita provides a preview of the upcoming episode featuring Kira Dineen, a pediatric genetic counselor and podcaster at DNA Today, who will discuss the role of genetic counseling in Trisomy 18 and related conditions. She encourages listeners to tune in to the insightful conversation. Check out Kira and DNA Today: dnapodcast.com. Check out Sarita on DNA Today, episode #277: https://www.podbean.com/ep/pb-qk3nj-158f3ce Make sure to following Being Rare on social media @beingrarepodcast and on YouTube: youtube.com/@theewefoundation/podcasts You can also find Being Rare wherever you stream your podcasts! Thank you for tuning in to Episode 97 of the Being Rare Podcast. Until the next time, Be Rare! --- Support this podcast: https://podcasters.spotify.com/pod/show/beingrare/support

In this episode, we speak with Dr. Emil Kakkis, a physician and scientist who has spent more than 30 years helping to advance research, treatment and policy for rare disease patients. He is also the founder of both the EveryLife Foundation for Rare Diseases and Ultragenyx, a life sciences company dedicated to developing innovative treatments for rare and ultra-rare diseases. Topics discussed: advanced tech and the promise it holds, the key factors in advancing rare therapies, issues standing in the way of treatment access and more. If you'd like to pick up a copy of Dr. Kakkis' book, you can find it at Impositivity Media or at Amazon. You can learn more about Rare Disease Week here. Editor's Note: Chronic conditions and rare diseases don't discriminate. Patient Worthy and its partners are interested in amplifying the voices of those from all identities and backgrounds. If you have an aHUS journey to share or want to connect with others about chronic illness, reach out here to learn more about how your voice can help spread awareness and inspire individuals from all walks of life.

ONCE UPON A GENE - EPISODE 178 A Rare Collection - Exhausted and Energized There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Annie Kennedy, Rare disease advocate with the EveryLife Foundation I have a quote in my office that says "she took her power back without permission". As I stood in the back of the legislative conference during Rare Disease Week, the opening speaker asked a room full of more than 600 advocates to, by a show of hands, show who was in Washington for the very first time for Rare Disease Week to advocate on Capitol Hill. I realized that more than 50% of the room was raising their hands and I immediately thought of that quote. More than 50% of that room was taking their power back for the very first time. That was exhilarating. There were many other exhilarating moments throughout the week. While the week was absolutely exhausting, full of meetings, documentary screenings and conferences, it was exhilarating. More than 600 advocates traveled and came together for an exhilarating week during Rare Disease Week, advocated together and shared stories. We took our power back and changed the rare disease landscape forever. Sarita Edwards, Rare mama and co-founder of The E.WE Foundation Our son, Elijah, was diagnosed in utero with the rare disease Edwards Syndrome, or Trisomy 18. Events like Rare Disease Week are important to me because it's an opportunity to raise awareness about Elijah's diagnosis and champion legislation we believe can help families like ours. Several weeks ago, I celebrated Rare Disease Week, alongside 600 rare disease advocates and 300 patient organizations in Washington, DC. To say I was energized is an understatement. The days were long and full of content and conversations, and though I was energized, I was also exhausted. I was exhausted watching advocates push themselves to limits on behalf of the rare community. It was exhausting walking from building to building, speaking with legislators who are in charge of the decisions that affect our day-to-day lives. I was exhausted thinking about how much we believe all of this makes a difference, and hopeful it actually does. Exhaustion is the evidence of my energy being used properly. I was exhausted, but I'm energized and I'm just getting started as a rare disease advocate.  Abbey Hauser, Ehlers-Danlos patient and Rare Disease Advocate and Board Member with Team Telomere There were two versions of me that existed in Washington, DC last week. There was the excited, engaged, educated and enthusiastic patient advocate. There was also the rare disease patient who laid alone on their hotel room floor at the end of each night, taking extra pain medications, hoping that the next day would go better for their body. Both versions are equal and valid to my story, yet most people only see the excited and engaged advocate that I am. I know the quiet moments that I laid on my hotel room floor are part of what makes me such a powerful patient advocate. I left Washington, DC exhausted beyond words and my body was pushed to its limits. Being a patient is hard, but being energized is worth the exhaustion. LINKS & RESOURCES MENTIONED The E.WE Foundation https://theewefoundation.org/about/ Team Telomere https://teamtelomere.org/ EveryLife Foundation https://everylifefoundation.org/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

“Our rare disease community is looking to solve for many different types of policy barriers because we have a very diverse patient community,” says Annie Kennedy, who was drawn to the rare disease issue due to some personal experience early in her life.  After spending many years as a patient advocate -- including being with patients during provider visits -- she has developed a keen understanding of where the healthcare system can be improved to do justice to rare disease patients and families. That insight informs her work as chief of Policy, Advocacy and Patient Engagement at the EveryLife Foundation where she helps provide patient communities with tools and resources they can use to make their voice heard in the policy arena. In fact, next week, EveryLife is holding its annual Rare Disease Week on Capitol Hill during which members of the rare disease community will meet with lawmakers in Washington to provide meaningful perspectives and encourage their support. “There are more than thirty million Americans living with rare diseases, so this is a real public health priority,” she tells Raise the Line host Michael Carrese. One resource EveryLife has brought to the table is a study on the total cost of living with a rare disease, not just the costs of medical care, which is helping to inform policy discussions. You'll also learn about some key steps pharma companies, insurers and providers can take to support the rare disease community and where the field is heading in the next few years.  Mentioned in this episode: https://everylifefoundation.org/

#raredisease #millennial #FDA #orphandrug #advocate #EveryLifeFoundation #rarediseaseweek CONVERSATIONS WITH CALVIN; WE THE SPECIES DANIEL PEZZETTA: “A special introspective, riveting, interview with his living with a rare disease (as a millennial, college student, national advocate) 30 MILLION Americans live with RARE diseases (93-95% of the 7000 rare diseases have NO FDA approved therapy)” 193 Interviews. GLOBAL Reach. Earth Life. Amazing People. PLEASE SUBSCRIBE (You can almost find any subject you want) https://www.youtube.com/c/ConversationswithCalvinWetheSpecIEs ** DANIEL PEZZETTA; Rare Diseases Legislative Advocate; EveryLife Foundation for Rare Diseases Intern; Millennial; Author; George Washington Univ YouTube: CONTACT: LinkedIn: https://www.linkedin.com/in/dan-pezzetta-591707216/ EveryLife Foundation: https://everylifefoundation.org/about-us/ Book Baby Purchase Book: ‘Disposed: A Story of Chronic Illness During the COVID-19 Pandemic': https://store.bookbaby.com/book/disposed-a-story-of-chronic-illness-during-the-covid-19-pandemic BIO: “Legislative advocate for those with Rare Diseases who is currently attending George Washington for Legislative Affairs. I've spoken at M.I.T, Harvard Medical School, and Rare Disease Week on Capitol Hill about policy” EVERYLIFE FOUNDATION FOR RARE DISEASES The EveryLife Foundation for Rare Diseases is a 501(c)(3) nonprofit, nonpartisan organization dedicated to empowering the rare disease patient community to advocate for impactful, science-driven legislation and policy that advances the equitable development of and access to lifesaving diagnoses, treatments and cures. We do not speak for patients. We provide the training, education, resources and opportunities to make their voices heard. By activating the patient advocate, we can change public policy and save lives. ** ALSO ON AUDIO: SPOTIFY http://spoti.fi/3bMYVYW GOOGLE PODCASTS http://bit.ly/38yH3yP edits by Claudine Smith- Email: casproductions01@gmail.com ** PLEASE SUBSCRIBE (You can almost get any subject you want ) #animalrescue #climatechange #womenshealth #ONEHEALTH #water #singersongwriter #branding #mindfullness #comedy #sport #infertility #racialequity #stuntwomen #comedy #environment #NASA

In the first part of our discussion with Mike Hu, we hear the story of his two sons with Mucopolysaccharidosis Type 2, or MPS2. MPS2 is also known as Hunter's Syndrome. I first connected with Mike during a Rare Disease Week session in which he talked about a truly visionary project. We often speak with parents who find themselves thrown into this world of rare disease absolutely cold with little or no training or experience in the world of genetics, biology, and scientific endeavor. This is certainly NOT the case for Mike. MPS2 leads to a wide variety of symptoms and issues. Mike's are a few years apart, but they were diagnosed at about the same time. Because of this, Hunter's Syndrome has affected them differently. Fortunately, there is a therapy available, and they were able to start it right away. They also were able to enter a clinical trial to test an intrathecal formulation. Their responses to that therapy and the typical delay in diagnosis they experienced for the older boy has led Mike to turn his professional skills to transforming newborn screening – but we will hear more about that next time.

ONCE UPON A GENE - EPISODE 129 Self Care for Your Healthcare with Ehlers Danlos Patient and Ms. Wheelchair Washington USA - Sarah Tompkins Ms. Wheelchair Washington USA 2022, Sarah Tompkins has Ehlers Danlos Syndrome (EDS), she does extensive rare disease advocacy work, and centers her messaging around her slogan- practice self care for your healthcare.  EPISODE HIGHLIGHTS Tell us about your EDS journey and advocacy work. I'm an Ehlers Danlos Syndrome and chronic pain patient and rare disease, disability rights and invisible disabilities advocate. I've been fortunate to be able to advocate through the Rare Disease Legislative Advocates, Rare Disease Week and Rare Across America programs to grow my patient advocacy and gain confidence, validation and healing from hearing others' experiences. I've learned that being a patient advocate is part of my self care because while I'm advocating for others, I'm also advocating for myself, sharing my story and feeling heard. I encourage everyone to be their own best advocate in any way that's meaningful to them. Was there a time you didn't have the confidence to advocate for yourself? A few days after receiving a genetic diagnosis, I went to a support group and met a friend who taught me how to be my own best advocate and she really lit the torch for me. My friend later passed suddenly and unexpectedly as a result in large part to a lack of awareness and advocacy for EDS. That really lit a fire in me to continue advocating with the passion that was passed down to me. After a doctor disregarded my symptoms and concerns based on my appearance, it made me want to advocate more about EDS. Tell us about Ms. Wheelchair Washington USA. The Ms. Wheelchair Washington USA promotes glamour, self-confidence and community services celebrating accomplishments of women with disabilities. The Dane Foundation organizes the Ms. Wheelchair Washington USA pageant. Their mission is to provide for the unique needs of individuals with physical and developmental disabilities.  How do you pursue advocacy despite what you're going through? A recent surgery resulted in a more difficult and intense recovery than I expected. In needing more care giving than usual and feeling out of control of my own health, I realized the toll it took on my mental health. Through my Ms. Wheelchair Washington USA message of practicing self care for your healthcare, I meant that to mean that as patients we may not realize we can be our own best caregivers and advocates. The same is true for caregivers who give so much of themselves to others and how hard it is to put their own self care first. Self care is important for everyone regardless of health, diagnosis and abilities. Everyone has the power to improve their self care by being their own best care givers and advocates by practicing kindness and compassion we'd offer others in our position, but sometimes struggle to give ourselves. CONNECT WITH SARAH Instagram @sarestthezebra https://www.instagram.com/sarestthezebra/ Email sarah.tompkins@edsnw.com sarah.tompkins@edsnw.com LINKS & RESOURCES MENTIONED 2022 CNP Virtual Family Symposium Registration  https://secured.societyhq.com/bch/2022/  The Dane Foundation http://www.thedanefoundation.org/ Ms. Wheelchair USA https://www.mswheelchairusa.org/ Ms. Wheelchair USA on Instagram https://www.instagram.com/mswheelchairusa/ Sponsor Sarah's Pageant (Sponsor Your Favorite National Finalist > Sarah Tompkins) http://thedanefoundation.org/eventsprograms/sponsormwusafinalists.html

Britta Dornan and Sarah Tompkins from the EveryLife Foundation for Rare Diseases join us to preview Rare Disease Week 2022. This important event runs from February 22 through March 2 and brings together rare patients from across the U.S. to make their voices heard. To learn how you can get involved, visit the EveryLife Foundation website here, and follow along with #RAREDC2022 on social media.

Rare Disease Week on Capitol Hill brings together rare disease community members from across the country to learn about federal legislative issues, meet other advocates, and share their stories with legislators. Because of ongoing concerns about the pandemic, this year's event will be conducted virtually. We spoke to Britta Dornan, senior director of communications and marketing for the EveryLife Foundation and Sarah Tompkins, advocacy chair of Rare Disease Week on Capitol Hill 2022, about this year's event, why rare disease patients should consider getting involved in legislative advocacy, and how rare disease patients and caregivers can best tell their stories to lawmakers.

Show Notes: In this episode, I chat with Daniel Dry Dock Shockley, a retired Navy, a veteran, and a 10 year hereditary colon cancer warrior. Daniel serves as a member of the University of Michigan Genetic Hereditary Testing (Might) Advisory Board and of the University of Texas Health Center, San Antonio, Texas, where he does live-case presentations for the Genetics in GI Malignancy multidisciplinary annual conferences. Daniel says that his purpose is to educate the world about Attenuated Familial Adenomatous Polyposis (AFAP) and continuing the legacy of Dr. Henry T. Lynch, who emphasized the importance of early detection in a hope of saving lives. Right now, Daniel is seeking legislative jurisdiction to designate the last full week of March as Hereditary Colon Cancer Syndrome Awareness Week. It's a daunting task and will take years to accomplish. However, he is “battle tested” and ready to lead the charge! After three years of collaborating on March 23, 2021, Texas Senator Donna Campbell, M.D., sponsored Daniel's HCC resolution initiative and presented the resolution on the Senate Floor, during Texas 87th Legislature Session. Connect with Daniel! Instagram: instagram.com/dandrydock___ Important Links: https://linktr.ee/Dandrydock Episode Segments: Intro Rare disease fact of the week Guest interview Q & A Session Outro See you all next Saturday! - Shivani Vyas ☺ @raredisorderpod on IG & Twitter, The Rare Disorder Podcast on LinkedIn https://linktr.ee/theraredisorderpodcast --- Support this podcast: https://anchor.fm/theraredisorderpodcast/support

Pulmonary Fibrosis News Columnist and Forum Moderator Charlene Marshall reads an article summarizing the events planned for 2021 Rare Disease Week on Capitol Hill. Amid roundtable discussions, policy updates and documentary screenings, patients and advocates will have an opportunity to win grants through the EveryLife Foundation for a rare disease organization of their choosing. Check out all the action for this year's Rare Disease Week on Capitol Hill on the EveryLife Foundations' homepage. Are you interested in learning more about Pulmonary Fibrosis? If so, please visit: https://pulmonaryfibrosisnews.com

Welcome to Episode 004 of the Beyond the Diagnosis Podcast. In this episode we talk with Jamie Sullivan and Shannon von Felden from the EveryLife Foundation about the STAT Act, the upcoming Rare Disease Week and the impact that both of these initiatives have had and will have on the rare disease community. We also welcome Deanna Fournier, Executive Director of the Histiocytosis Association as she shares about the Association's involvement in several of EveryLife Foundation's working groups. Let us know what you think! Leave us a review, drop us a comment or email Kathy directly at kw@histio.org. Take a screenshot and tag us @histiocytosis_association on Instagram. We'd love to hear your feedback! www.everylifefoundation.org www.statact.org www.rareadvocates.org/rdw Music: “Heroes” by Noah Smith

On this episode, Managing Editor Ilana Bean has a conversation with Amy Dahm, the head of Cushing's Support and Research Foundation patient support group for Washington, D.C., Maryland and Virginia. The interview was recorded at Rare Disease Week 2020 in February.

We've got a short episode with Dan Pezatta, a representative from YARR. YARR might sound like a pirate greeting you but it's actually something even cooler: Young Adults of RDLA (RDLA, in turn stands for Rare Disease Legislative Association.) Dan joined Rebekah and Ilana during Rare Disease Week to talk a little about what led him to advocacy, the legislative change he hopes to see, and what it's like to be in a young adult rare disease community.

Maria Picone founder TREND.Community and Shelley Bowen, founder Barth Syndrome Foundation were in Washington, DC recently for Rare Disease Week to advocate for more research and awareness about a difficult subject.  Maria and Shelley emphasize the need for members of Congress to join the Rare Disease Caucus and for healthcare activists to show up to have their voices heard about the need for more funding and patient involvement in finding cures for rare and orphan diseases. @TRENDCommunity @BarthSyndrome #rarediseases #RDW #RareDiseaseDay #patientfocused #GeneticDisease TREND.Community Barth Syndrome Foundation  

As rare disease patients and advocates seek to raise awareness around the globe for World Rare Disease Day at the end of February, one notable place they will gather is on Capitol Hill in Washington, D.C. It’s become an annual tradition for rare disease advocates to talk face-to-face with lawmakers to bring the abstractions of rare disease down to a human level and speak about the needs patients and their caregivers face. We spoke to Steve Silvestri, director of public policy for the Everylife Foundation for Rare Diseases, about Rare Disease Week on Capitol Hill, the case for patients and caregivers to become advocates, and how they can go about doing so.

Speech Science has a guest host all the way from Seattle, Julie Fechter.  Julie, a PRN SLP in a variety of positions, weighs in on the news around speech and language.  Matt and his kids began their donut trail, Michelle returns from a vacation, and Michael has begun working with local school districts.      Matty Manley and Megan Meyer met at Rare Disease Week on Capital Hill and something clicked between them.  As parents to children with congenital muscular dystrophy, they decided to educate others and find a way to help their children along the way.  Two Rare Mama Bears Podcast was born.  Matty and Megan sit down with Matt to talk about their journey.      Patient Driven Payment Model goes into effect in less than 2 weeks.  What does this look like for the therapists?  Some therapists have been told their hours are getting cut while others are being told to see patients in a group while some have gotten a 3% pay cut.    Do you target executive functioning in your therapy sessions?  What exactly is our role and how do we target this?  Michael talks about how he looks at it in his clinic.  Michelle explains hippo therapy and how it can help.      Email: speechsciencepodcast@gmail.com Voicemail: (614) 681-1798   New Episode and Interact here: www.speechsciencepodcast.com podcast.speechsciencepodcast.com   Patreon – A Chance for Dinner at ASHA https://www.patreon.com/speechsciencepodcast  ----more---- Rate and Review: https://itunes.apple.com/…/speechscience-org-…/id1224862476…   Show Links Two Rare Mama Bears https://www.curecmd.org/podcast   PDPM http://www.foundationsgroup.net/files/126558935.pdf https://www.asha.org/practice/reimbursement/medicare/medicare-patient-driven-payment-model/ https://www.asha.org/uploadedFiles/AOTA-APTA-ASHA-Consensus-Statement.pdf https://skillednursingnews.com/2019/09/skilled-nursing-operators-shouldnt-count-on-investors-to-share-pdpm-optimism/   Executive Functionig https://leader.pubs.asha.org/doi/10.1044/leader.SCM.24092019.36   Therapy Horses https://abc7chicago.com/pets-animals/therapy-horse-helps-military-first-responders-in-palos-hills/5541395/   Intro Music: Please Listen Carefully by Jahzzar is licensed under a Attribution-ShareAlike License. Bump Music: County Fair Rock, copyright of John Deku, at soundcloud.com/dirtdogmusic Closing Music: Slow Burn by Kevin MacLeod is licensed under a Creative Commons Attribution License.     Speech Science Powered by: You!  

In this joint podcast episode, Ben visited with Megan Meyer and Matty Manley, both moms to children living with a congenital muscular dystrophy (CMD). You may know Megan and Matty from their podcast, "Two Rare Mama Bears," and we were so excited when they asked us to do a joint episode! You'll hear discussion about summer weather in the midwest, the flow of events during Rare Disease Week on Capitol Hill, the mission of Cure CMD, and a bit about the CoRDS Registry too. We hope you enjoy this episode - and be sure to subscribe to Matty and Megan's podcast at curecmd.org/podcast.

When the moms are away in Washington D.C. for Rare Disease Week on Capitol Hill, the dads are going to play…..The dads decided to take over the microphone and record their perspectives of being CMD parents and what it has been like to watch their wives host a podcast. Find Two Rare Mama Bears on Facebook, Instagram & Twitter: 2raremamabears Listen to this podcast on Apple podcast, Google Play, SoundCloud or Stitcher. Stream online at www.curecmd.org/podcast

Leading into Rare Disease Week on Capitol Hill when a team of more than a dozen CMD community members from around the U.S. will advocate for policies, greater funding, and support for CMD...we thought it would be good to check in with Gustavo Dziewczapolski, PhD, Cure CMD Scientific Director, on the current state of CMD research. Quick find for each subtype: 1. SEPN1 - 05:45 2. LMNA - 15:05 3. Collagen VI - 21:46 4. LAMA 2 - 31:35 5. a-Dystroglycanopathy - 38:09 Funding portfolio online: https://www.curecmd.org/funding-portfolio Dr. Dziewczapolski received his Master's degree from the University of Buenos Aires, followed by a Ph.D. in Neuropharmacology. Before joining Cure CMD in September 2016, he researched neurological diseases for eighteen years at UC San Diego and the Salk Institute. He is the father of two beautiful daughters, Tatiana and Rafaela, who continue to challenge and inspire him. And to balance his addiction to chocolate, he enjoys surfing and soccer. Find Two Rare Mama Bears on Facebook, Instagram & Twitter: 2raremamabears

Would you like your voice to be heard by your elected officials? Think that you may like to know more about advocacy? This episode is a quick crash course into EveryLife Foundation, Rare Disease Legislative Advocates, and Rare Disease Week on Capitol Hill. Lindsey Cundiff, Associate Director of Patient Engagement for EveryLife Foundation shares with us the ins and outs of these organizations and how they design events and resources to support the advocacy of all rare disease patients and organizations - by working collectively, our many voices join together to ensure that rare patients are heard in state and federal government.

We are excited to bring you the recording of a live panel following the showing of the film The Ataxian, which is the movie both of us are featured in! You probably know about the movie by now- it focuses on our team's journey in Race Across America (RAAM), the world's toughest cycling event, trekking 3,000 miles from CA to MD. This movie serves as a vehicle which introduces viewers to the FA (Friedreich’s Ataxia) community.   The documentary screening was the kick-off event for Rare Disease Week on Capitol Hill, a gathering of Americans passionate about the issues facing one in ten Americans, those diagnosed with rare diseases. Each year, the Everylife Foundation arranges a week-long event for participants throughout the country to gather in Washington D.C. and learn about federal legislative issues, meet other advocates and dialogue directly with legislators. This annual event is held around Rare Disease Day, February 28.   Rare Disease Week includes an exhibit by artists with rare diseases, a symposium of current efforts and information about rare diseases, a day spent lobbying Congressional representatives, and a documentary-screening of a rare disease. This year, The Ataxian was shown as the featured documentary.   This episode is a recording of the panel after the movie screened. It is a mash-up of many contributors in attendance of the screening and Q&A discussion! Along with the Two Dudes, on the panel we had Dr. Angel Martin, FARA Research Program Director, and Tom Hamilton, Executive Producer of the film and a 2DD guest on episode 024. We also hear from Ron Bartek, co-founder and President of FARA, who was featured on episodes 009 & 011.   Join us as we dive into the movie and patient advocacy.   The film is available on video platforms now. So if you haven’t seen it yet, click your preferred platform here: iTunes • Amazon • GooglePlay

We are proud to present the second half of our interviews at Reata Pharmaceuticals, this time it is all about Patient Advocacy and Patient Voice. Today is also the first day of Rare Disease Week, a US initiative sponsored by Rare Advocates, a week for those in the rare disease community to meet with our national Senators and Representatives in DC. Sean and Kyle are here in DC, along with our two behind-the-scenes dudes Jake and Matt, helping to amplify the patient voice! February is global Rare Disease Day! During our recording at Reata, we had the privilege of talking to Kara Eichelkraut, who is responsible for Patient Advocacy at Reata Pharmaceuticals. Kara tells us a little about her background - how her education and preparation for pharmaceutical work led her to work in a pharmacy. And she hated that job. She then took a position at a pharmaceutical company, Reata. She heard of a 5k for mitochondrial disease and got a group of her fellow employees to participate at it. This was the start of her patient advocacy work - a totally new avenue for work at Reata. She grew to see the enormous value of patient advocacy.   Additionally she recalls her first encounter of Sean, as an awkward creeper at a rideATAXIA event.   Kara and the rest of Reata are getting excited for rideATAXIA Dallas, coming March 24. For more details on that event, click on the link.   We want to thank Reata Pharmaceuticals for allowing us to stop in and have a live podcast there. Thanks to all of our guests. On behalf of the rare disease community, we truly appreciate all of your work!   IMPORTANT NOTE- The movie The Ataxian, starring both Sean and Kyle is finally out on digital video formats today, February 26. Now is your chance to see this inspiring movie. Look for it on any of these platforms - iTunes, Google Play vied, Amazon video, Xbox, or the PlayStation Network. More at theataxianmovie.com.

We’re excited to bring you the first of two episodes about the drug development process we recorded LIVE at Reata Pharmaceuticals headquarters in Irving, TX. In this episode, we talk to Warren Huff, the founder and CEO, and Dr. Collin Meyer, Chief Medical Officer. In a behind-the-scenes look at a pharmaceutical company, we hear the background stories of both Mr. Huff and Dr. Meyer, as well as the origin of Reata. One of our guests divulges that he owns a Viper and races cars. Listen to find out which one Sean is jealous of. We also ask them about a new drug that Reata is developing, called RTA-408. This drug has special interest to us because it is a drug for patients with FA, which both Kyle and Sean have. For more information on participating in MOXIe, Reata’s study in FA, visit http://www.curefa.org/clinical-trials/clinical-trials-active-enrollment-closed/cohort-9-moxie-phase-2-study-of-rta-408     On Sunday, February 25, the Dudes will be participating in Rare Disease Week, and this kicks off with a screening of the documentary The Ataxian, followed by a Q&A session. This starts at 5:30 at the Naval Heritage Center in Washing DC. If you’re nearby, we’d love to see you! For more info and to register, click here.

Healthcare Whisperer welcomes back Mary Elizabeth Parker to the show.  She is here to discuss her recent trip to Washington, DC to be a part of Rare Disease Week.  She was involved in many events including meeting with several congress people.  She will be discussing upcoming legislation, research and what is happening at the NIH Rare Disease Department. Mary Elizabeth is dedicated through her work with U R Our Hope, to helping families and individuals finds answers to undiagnosed problems.  She is also a voice for those who are suffering with rare diseases and need assistance getting what they need from the healthcare system.  She is an inspiration for many including me! Be sure to tune in to get the latest updates and hear the moving and inspiring stories of those Mary Elizabeth works with.