Organization(s) you represent: The Global Foundation for Peroxisomal Disorders
Disease Affiliation: peroxisomal disorders in the Zellweger spectrum and the related single enzyme protein deficiencies.

Organization Mission: The mission of the GFPD is to improve the lives of individuals with peroxisomal disorders by funding research, championing scientific collaboration, and empowering families and professionals through educational programs and support services.

What led you to the rare disease community?

I came to the rare disease community when I became a mother, as it became apparent early on that my first born, Ginny, was impacted with a rare, genetic disease. It took us 2 years to uncover her complete diagnosis of a peroxisomal disorder in the Zellweger spectrum, not a long time in the rare disease community, but for a mother it seemed like an eternity.

What do you think are the areas that are lacking in the community (specific to your org or in general)?
One area that I think is lacking is the ability of the rare disease community to be nimble when it comes to supporting patients outside of the United States. On the whole, we have to do better understand the challenges of international patients and caregivers and provide resources that can transcend borders and languages.

What are some of the pain points?

The biggest pain point I see right now is a lack of resources translated into multiple languages. I would love to see a coordinated effort by numerous organizations to make a dent in this challenge.

What are your areas of expertise?

Nonprofit management is my biggest area of expertise followed closely by patient advocacy.

What is your hope for the future for rare diseases?

My hope for rare disease patients in the future is that they have equitable access to resources no matter what state, zip code, or country they live in.

 

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