A Year in the Life – Community of Us

JOIN US!

Be part of A Year in the Life. Sign up to receive updates, join community conversations, and share our collective story so the world sees life with Pompe through the people who live it every day.

MEET THE TASK FORCE

We are grateful to the Year in the Life Force—people living with Pompe disease, their families, care partners, advocates, and healthcare professionals-whose insights and experiences guide and inform every step of this initiative.

Sandra

Sandra Young, PhD

Sandra lives with late‑onset Pompe disease and is based in New Jersey. She has a doctorate in Human Services and a long career in nonprofit leadership. Sandra serves on the board of the Pompe Alliance alongside her fellow advocate, Heather Shorten. She joined the Year in the Life Task Force to ensure every unique Pompe journey is seen, valued, and understood.

Sean

Sean Doerr, MPA

Sean lives with late‑onset Pompe disease and is based in Michigan. He holds a Master of Public Administration and is deeply committed to public service. Outside of his day job, Sean serves as a paid‑on‑call firefighter and spends much of his spare time camping and traveling in his custom RV — exploring the unfamiliar, making space for the things he loves, and preserving the routines that keep him moving. He joined the Task Force to highlight the everyday accommodations and “in‑between” moments that rarely surface in clinical conversations.

Paul

Dr. Paul McIntosh, MD

Dr. Paul McIntosh is a neuromuscular neurologist living with late‑onset Pompe disease, bringing both clinical expertise and personal insight to the Task Force. His dual perspective offers a unique lens on diagnosis, disease progression, and patient‑provider communication. He joined Year in the Life to help strengthen understanding on both sides of the exam room.

Dr. McIntosh serves only as an external advisor to the Year in the Life Task Force.

Anne

Anne St. Martin

Anne is co-founder and co-executive director of the Pompe Warrior Foundation and a mother of two, including a son diagnosed with infantile-onset Pompe disease at four months. With a background in policy and rare disease advocacy, her research focus includes diet for people living with Pompe. She collaborates with researchers, clinicians, and patient communities to advance patient-driven data and joined Year in the Life to elevate caregiver voices and promote collaborative Pompe care.

Denis

Denis St. Martin

Denis is co-founder and co-executive director of the Pompe Warrior Foundation and the father of a child living with infantile-onset Pompe disease. A business leader in the electrical industry, he brings the perspective of a working parent and daily caregiver navigating rare disease. Through the foundation, he connects families with information and community resources and joined Year in the Life to highlight the invisible labor of caregiving while balancing work, family, and advocacy.

Manuela

Dr. Manuela Corti, MD, PhD

Dr. Manuela Corti is a clinician‑scientist and physical therapist specializing in neuromuscular disorders. Her work focuses on improving functional outcomes while centering on lived experience of people navigating progressive conditions. She joined the Task Force to help bridge clinical insight with real‑world perspectives and strengthen patient‑provider understanding.

HEAR THEIR STORIES

To learn more about late-onset Pompe disease, visit our resource hub.

Sign up to stay in the loop!

Let’s close the gap—one story, one conversation at a time. This initiative invites people living with LOPD and their care partners to share the moments that matter most and encourages healthcare professionals to reflect on the moments of understanding that better shape care.

By signing up, you’ll receive updates on A Year in the Life, hear from others in the Pompe community, and be invited to share your own experience. Together, these stories help illuminate what often goes unseen—fleeting symptoms, quiet shifts, and the everyday moments that define life with Pompe. Your voice adds dimension to help the community better understand the full picture of life with Pompe over the course of a year.

Thank you to our partners supporting this important initiative!

Pompe Warrior Foundation
Pompe Alliance

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