The ‘Hero of n-Lorem’ Award is a recognition given to an individual volunteer or organization that has made substantial contributions to n-Lorem and our nano-rare patients. This honor recognizes our ‘unsung heroes’, those who have gone the extra mile, taken time away from their schedules and families and leveraged their expertise and contacts to support n-Lorem’s mission to provide hope and potential help to nano-rare patients. On this episode of the Patient Empowerment Program podcast, we welcome three of our five 2025 Heroes for a conversation about their inspiration to take action:

- Wendy Erler, Senior Vice President, Patient Affairs, Sarepta Therapeutics

- Richard S. Geary, Ph.D., Chief Development Officer, Executive Vice President of Development, Ionis Pharmaceuticals

- Scott Henry, Ph.D., DABT, SVP, Nonclinical Development, Ionis Pharmaceuticals

Sponsors:

ChemGenes

Hongene Biotech

NRPC25: https://www.nlorem.org/nano-rare-patient-colloquium-2025/

Rescue 7 is dedicated to serving the most vulnerable patient communities with care, compassion, and critical support. Inspired by the traditions of Fire Departments, Police Departments, and Military service worldwide, their programs go beyond emergency response. From patient transportation to sibling support initiatives, as well as emergency disaster relief efforts — Rescue 7 is there. Always ready and there when you need them.

Rescue 7 is founded by n-Lorem families. They will host the Family Club at the 2025 Nano-rare Patient Colloquium. Families are invited to stop by, hang out, or drop off their children for fun, firefighting-themed activities while caregivers attend the event. Get to meet the first responder volunteers, Luke Rosen, and Raena and Frank Vrtochnick in this episode of the Patient Empowerment Program Podcast!

Sarah and Ryan Marta, proud parents of three girls from Central Texas, began noticing that their middle daughter, Kinsley, was slow to reach mobility milestones in her early years. During a visit to a friend’s house, concerns about her vision were raised, prompting a check-up. What began as a single hospital visit quickly turned into many. An MRI revealed abnormal levels of white matter in Kinsley’s brain—leading to the devastating and confusing diagnosis of a nano-rare neurodegenerative disease called TUBB4A.

Looking high and low for help, they eventually discovered n-Lorem, a non-profit that discovers and develops personalized medicines for extremely rare individuals like Kinsley.

Kinsley is lively and cheerful with infectious laughter and a bright smile that lights up every room. She loves singing at the top of her lungs, swinging in the fresh air, and spending endless hours playing with her sisters and cousins. Kinsley uses a mobility walker to get around, but one of her biggest dreams is to run. When asked what she’d do after running, she simply says, “I’d run some more.”

On This Episode We Discuss:

2:35 - Early signs of Kinsley’s disease and her TUBB4A diagnosis

4:00 - Fight or flight – Sarah and Ryan did all they could to seek help

7:30 - Defining TUBB4A

9:40 - Kinsley's challenges today

11:00 - The impact rare diseases have on families

14:40 – Kinsley wants to do more, and an n-Lorem medicine provides optimism

Links: 2025 Nano-rare Patient Colloquium Agenda and Registration - https://www.nlorem.org/nano-rare-patient-colloquium-2025/

Donate to n-Lorem - https://www.nlorem.org/donate/

Hongene Biotech - https://hongene.com/