In this episode, we recount a challenging experience during our cycling trip in the Himalayas. Sean shares the story of his accident, where he was forced to brake hard on the trike, causing it to flip and throwing him to the ground. The impact left him with severe pain in his shoulder and hip, making it difficult to breathe initially and leaving him unable to continue the ride. Despite his initial hope that he might recover quickly, the pain worsened, and he realized he needed to seek medical attention back in the United States.

With the help of his teammates Colin and Colin's daughter, Alexis, Sean navigated the arduous journey back home, dealing with intense pain throughout. Upon arriving in the U.S., Sean visited the ER to begin his recovery process. Meanwhile, the rest of the team continued the ride, facing grueling climbs and extreme conditions. The episode highlights the resilience and determination of both Sean and the team, underscoring the physical and emotional challenges of undertaking such a demanding journey.

This trip would not have happened without these team sponsors: Biogen, Lexeo Therapeutics, Cure FA Foundation, Masonry Builders, Nugget Markets, and The Avery Family Foundation. Gear provided by: Catrike, Gorewear, and Zeiss Camera Lenses.

The episode ends with a discussion about what's next. Kyle will focus on development of the rideATAXIA fundraising program. Sean will climb the world's longest staircase in Switzerland next year.

This episode kicks off Season 12: An abbreviated season. After eight years of consistent publishing, the Dudes are scaling back for the rest of 2024 in order to fine tune the show, focus energy elsewhere, and just catch up on life. This season will consist of five episodes, one for each month through December. Regular, weekly episodes will resume in February 2025 with Season 13.

The reflection of their trip to India will span over two episodes. In this episode (pt.1), Sean and Kyle reflect on their recent trip to India, describing both the challenges and highlights of their adventure. They mention the initial stress of the journey, the support they received from sponsors and donors, and the excitement and admiration from friends and family.

The episode details their activities, including meeting researchers at the All India Institute for Medical Sciences (AIIMS) and connecting with the FA patient community of India. They recount the logistical difficulties they faced, such as getting their trikes through Customs and navigating airport security with their group, including the language barriers and misunderstandings.

Upon arriving in Leh, they acclimated to the high altitude, explored local culture, and prepared their Catrikes for the upcoming trek. The Dudes share humorous and stressful moments, such as the infamous white scarfs, dealing with intense sun exposure, and adapting to local cuisine.

Finally, they describe the start of their bike ride, marked by a traditional dance and music presentation by local performers, emphasizing the support and encouragement they received throughout their journey.

Be sure to catch episode 257 for the rest of the story.

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