In the final episode of season 11, The Dudes discuss their major upcoming event: a challenging 200-mile bike ride in the Himalayas - to the top of the world’s highest paved road - over 19,000’. They talk about the logistics, the elevation challenges, and their preparation, including the use of altitude training masks. They also address concerns about food, accessibility, and health, highlighting the need to adapt to unforeseen circumstances.

Sean and Kyle express their excitement and some nervousness about the trip, emphasizing the importance of taking on such challenges despite the risks. The Dudes reflect on the support and inspiration they find within the rare disease community, underscoring the shared goal of pushing boundaries and raising awareness.

Also in this episode:

• An update on Kyle's adaptive van situation featuring a note from Terry in Australia.
• Rare Resilience: Onno Faber
• Thank you notes: The Kindness of strangers and Team FARA supporters

Links and resources:

• More about Sean and Kyle's trip.
• The route map.
• Donate to Team FARA Himalayas.
• Visit our segment partner: #RAREis

This episode (254) features an interview with John Crowley, who shares his journey into the rare disease space. John's involvement started in 1998 when his daughter Megan was diagnosed with Pompe disease, a rare form of muscular dystrophy. Determined to find a cure, John and his family embarked on a journey of research and entrepreneurship, ultimately founding a biotech company that developed a life-saving enzyme therapy for Pompe disease.

Despite initial challenges, including financial struggles and personal sacrifices, John's perseverance led to successful treatments for Megan and other patients. Today, Megan and her brother Patrick are thriving adults, actively contributing to society despite their condition.

John's commitment to patient-centered care extends beyond his personal journey. As CEO of Amicus Therapeutics and now as CEO of BIO, he continues to advocate for rare disease patients, emphasizing the importance of universal access to treatment and addressing barriers to healthcare.

Throughout the interview, John's resilience and optimism shine through, serving as an inspiration for others facing similar challenges. His dedication to making a difference in the lives of patients and his unwavering determination highlight the transformative power of hope and perseverance in the face of adversity.

Also in this episode:

• Sean plans to burn the clothes he wears on the climb up the world's highest road
• Rare Resilience: Kelly Barendt
• Thank you notes: Bio News and the FARA Staff

Links and resources:

• John's previous episode:
  
  • 144 - DD pt2: Do good and...with John Crowley
• BIO
• Make a Wish Foundation
• Visit our segment partner: #RAREis

Rob Long shares his journey with Uplifting Athletes, an organization dedicated to leveraging the influence of athletes to support those impacted by rare diseases. Rob and Brett Brackett took over leadership in 2018, revitalizing the organization's mission. They have several powerful initiatives including The Young Investigator Draft, Lift for Life, Leadership Development, and Uplifting Experiences.

Rob reflects on the organization's impact, sharing a touching story of how a seed grant recipient's research saved his life. This personal connection underscores the profound ripple effect of Uplifting Athletes' work.

Also in this episode:

• Rare Resilience: Jose Flores, Motivational Speaker
• Thank you notes: John the mailman and the Masterclass app

Links and resources:

• Rob's previous episode:
  
  • 070
• Episode with Rob's Rare Resilience segment
• Jose Flores social media:
  • Instagram
  • Facebook
  • LinkedIn
• Visit our segment partner: #RAREis

In episode 252, Rob Long, executive director of Uplifting Athletes, revisits his rare disease journey. He recounts his college football days at Syracuse University and the abrupt onset of symptoms during his senior year. Rob shares the initial confusion and fear surrounding his diagnosis of a brain tumor, leading to surgery and a challenging recovery process. He reflects on the emotional toll of accepting his diagnosis and navigating through post-traumatic stress disorder (PTSD) in the years following.

Also in this episode:

• Kyle and Sean chat about squishy PB & J
• Rare Resilience: Nathan Peck, CEO of Cure VCP Disease

Links and resources:

• Route map for the Dude's ride in India
• Rob's previous full episode
• Episode with Rob's Rare Resilience segment
• Visit our segment partner: #RAREis

In episode 251 we welcome our dear friend Linda Snyder! Linda shares her personal journey living with a rare genetic type of ataxia and discusses how she discovered the benefits of having a mobility service dog named Cedric. She talks about the rigorous process of applying for a service dog, the extensive training Cedric underwent, and the various tasks he assists her with, including laundry!

Additionally, Linda shares her involvement in the rare disease community, particularly her role in co-founding the Nebraska Ataxia (Now called Ataxia Connection), a support group that has grown significantly over the years. She discusses the impact of connecting with others who share similar experiences and the importance of supporting one another.

Also in this episode:

• Kyle cheats Target out of 15 cents
• Rare Resilience: Rob Long, Executive Director of Uplifting Athletes
• Thank you notes: Starbucks baristas & Pat O'Connel

Links and resources:

• Canine Partners for Life
• Visit our segment partner: #RAREis

Our friends at Jett Foundation invited us into their community once again for a conversation with 5 panelists on Rare Disease Day.

We were honored to moderate the discussion with these friends:

• Race Martinez - Architecture Student, living with Duchenne
• Kris Napper - Graphic Designer/Illustrator, Business Owner, living with SMA
• Chris Schlechty - Software Engineer, Jett Foundation Board of Directors, living with Limb-girdle
• Colin Werth - IT Specialist, International Traveler, living with Duchenne
• Amanda Becker - Mom to individual living with Duchenne

The conversation covered topics such as adaptive driving, college transitions, building a career, volunteering to enrich the community, and entrepreneurship. All of this helped highlight the strength and determination within the rare disease community.

We hope you are as encouraged by this conversation as we are.

Links and Resources:

• Jett Foundation
• Camp Promise

This episode delves into the journey of Skyclarys, the first FDA-approved treatment for Friedreich's ataxia (FA), a rare genetic disorder. The discussion features Dr. Colin Meyer, former executive at Reata Pharmaceuticals, who shares his experiences from the inception of Reata to the acquisition by Biogen.

The conversation offers a compelling narrative of resilience, innovation, and collaboration in the pursuit of groundbreaking therapies for rare diseases. Colin's reflections provide valuable perspectives on the challenges and rewards of drug development, as well as the transformative potential of scientific breakthroughs in improving patient outcomes.

Also in this episode:

• Sean visits Golden 1 Arena
• Newsworthy: Athlete With Cerebral Palsy Finishes The Barcelona Marathon
• Thank you notes: Kyle's friends Blake & Dan and Sean's friend Taylor

Links and resources:

• rideATAXIA Hometown San Luis Obispo, CA. May 11, 2024
• Nic Novicki's 2DD Episode
• Colin's previous episode:
  • 035 - Drug Development - LIVE at REATA Pharmaceuticals
• Team FARA Himalayas Fundraising page
• Alex Roca finishing Barcelona Marathon
• Newsworthy music courtesy of Zapsplat.com

In this insightful interview with Jen Farmer, CEO of the Friedreich's Ataxia Research Alliance (FARA), we explore the evolving landscape of rare disease research and the journey towards treatments for Friedreich's ataxia (FA). Jen shares her experiences and challenges as a leader in the field, emphasizing the importance of community involvement and collaboration.

Also in this episode:

• Sean travels to Vegas with a group of 30.
• Newsworthy: Viral ad challenges stereotypes about Down syndrome: ‘Assume I can drink a margarita’
• Thank you notes: Jakob in Austria and Kelly at The Venetian.

Links and resources:

• Jen's Previous episodes:
  • DD pt4: Why Sean Baumstark is Banned From Clinical Trials
  • How a Mom Launched the First Drug Approval in FA
• Newsworthy music courtesy of Zapsplat.com