Patient Perspectives

Maria Santaella, PhD (c), MSN, RN-BC, CPHON serves as the Vice President of Research for the National Bleeding Disorders Foundation. During the workshop she spoke on clinical trial enrollment by sharing strategies to address barriers in recruiting.

Inclusive Trial Design Amplifies Patient Voices and Drives Meaningful Outcomes

Samuel Hughes, MBA, St. Jude Children's Research Hospital | June 18, 2024

Overcoming recruitment, endpoint, and resource challenges in rare disease trials was the focus of the workshop organized by the Patient Outreach Committee at the ASGCT 27th Annual Meeting.

Annual Meeting 2024  |  Outreach  |  Patient Perspectives  |  Policy & Advocacy

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Rare Village Foundation Lets Rare Disease Families Know They're Not Alone

Devin Rose | October 05, 2023

“When you get that diagnosis, your life is forever changed, "said Kasey Woleben about receiving the news that her son, Will, had a rare genetic disease. Woleben (on the far right, below, with Will) is co-founder of a non-profit organization that serves as a fundraising platform for families like her own.

Patient Perspectives

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From Camp to Capitol Hill, Jordan Howard Advocates for Hemophilia

Devin Rose | April 17, 2023

College freshman Jordan Howard, who lives with severe hemophilia B, recently spent his first Rare Disease Week in Washington, D.C. talking with legislators about the benefits of newborn screening.

Patient Perspectives

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Through the Pain of Fabry Disease, Artist Wes Burian Hasn’t Let Go of Hope

Devin Rose | February 28, 2023

In recognition of Rare Disease Day, artist and clinical trial participant Wes Burian shared his story about living life with Fabry disease, a lysosomal storage disorder.

Patient Perspectives

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Meet Amber Freed, Mother and SLC6A1 Advocate

ASGCT Staff | January 28, 2021

When he was 18 months old, Amber Freed's son, Maxwell, was diagnosed with SLC6A1, a rare genetic disorder that causes seizures, severe movement and speech disorders, and intellectual disability.

Patient Perspectives

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Sean Doerr Shares How He's Embracing Life with Pompe Disease

ASGCT Staff | February 06, 2020

In this Q&A, Sean Doerr, 29, talks about living his life with a genetic disorder that took years to diagnose, the importance of being your own advocate, and why he believes it's an "exciting time to have Pompe disease."

Education  |  Patient Perspectives

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Watch "Life After Gene Therapy" from ASGCT and NORD

ASGCT Staff | January 10, 2020

The fifth and final webinar in this series explores the personal journeys  of two patients who received gene therapy.

Education  |  Patient Perspectives

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