GLUT1 DEFICIENCY FOUNDATION

The Glut1 Deficiency Foundation is a non-profit family organization dedicated to improving lives in the Glut1 Deficiency community through its mission of increased awareness, improved education, advocacy for patients and families, and support and funding for research.

INCREASED AWARENESS will help ensure more patients get a life-changing diagnosis and more families find support on this journey.

IMPROVED EDUCATION will help patients and families know what to expect and help medical professionals know how to diagnose and treat Glut1 Deficiency.

ADVOCACY FOR PATIENTS AND FAMILIES will help ensure rights are protected, voices are heard, and lives are valued.

SUPPORT AND FUNDING FOR RESEARCH will help move progress along for better understanding, better treatments, and ultimately a cure.

We have several programs and projects we have created to help accomplish our mission.

For INCREASED AWARENESS and IMPROVED EDUCATION, we have developed a comprehensive website with our own resources and information as well as links to relevant outside resources. We have a video program in progress, sharing family stories and interviews with experts and researchers. We have developed printed materials we share as part of our Find Some1 with Glut1 program, where we exhibit at professional medical meetings and try to raise awareness of Glut1 Deficiency and educate on how to diagnose and treat it. We also share print materials with families through our Welcome Packet project, mailing a collection of resources to newly diagnosed families who sign up for our mailing list. We host biennial conferences on Glut1 Deficiency to educate families and professionals with the latest information and updates on research and clinical practice.

For our goal of ADVOCACY FOR PATIENTS AND FAMILIES, we work with other Glut1 Deficency groups, rare disease organizations, and service agencies to give our patient community a voice. We provide resources and assistance to patients and families who are navigating the Glut1 Deficiency journey and need help with securing treatment, services, and information.

For our mission component of SUPPORT AND FUNDING FOR RESEARCH, the G1D Foundation supports and funds seed research projects through our Research Grant Program for better understanding, better treatments, and ultimately a cure. We also helped establish and currently help maintain and promote the G1D Registry at UT Southwestern Medical Center. We have convened the research community, developed a strategic research plan, and are building a collaborative research network to drive research progress.

The Glut1 Deficiency Foundation is founded, organized, governed, and led by parents of Glut1 Deficiency patients, so all involved are motivated and driven to promote positive changes in the community. The Board of Directors, Executive Director, and committee members come from diverse backgrounds and geographical locations with well-rounded professional experiences including engineering, law, medicine, research, healthcare, accounting, industry, journalism, and education.

The G1D Foundation is also fortunate to have a Medical Advisory Board comprised of the top expert clinicians and researchers in the field of Glut1 Deficiency, genetics, and the ketogenic diet. The MAB provides invaluable resources, guidance, and direction. In addition, the Scientific Advisory Board is made up of clinician/researchers and Glut1 Deficiency parents who are also physicians. The SAB helps guide our research initiatives and inform our research grant award program.

There is also an active and diverse family base supporting the G1D Foundation through committee service, volunteer efforts, and fundraising to help ensure the mission work continues and grows.

The G1D Foundation has support, resources, and leadership in place to continue to implement, evaluate, and improve our current programs and to look for new ways we can better serve the needs of our growing patient and family community.

Since the formation of the G1D Foundation, the number of patients diagnosed has increased steadily due in part to our efforts at raising awareness and improving education for the public and the medical community. Our goal is to continue to reach more who are in a position to help make a life-changing diagnosis. We have served hundreds of families and educated professionals from all over the world through our biennial conferences, our website and social media resources, and our Find Some1 with Glut1 educational exhibits. We hope to continue growing the numbers served and find ways to better identify and meet needs while we continue to share the latest information on research progress and best practice.

We have seated a MAB and will continue to work with them to develop resources and programs, including work that is underway to develop a Standard of Care consensus paper. We have worked on behalf of the G1D community through efforts with other G1D and rare disease organizations, including membership with NORD and initiatives with Eurordis. We have been engaged in efforts with the NIH and the FDA, providing insights and representation for G1D patients and families. Several Board members have met with congressional representatives to discuss support for issues around relevant to the community. We have assisted individual families with issues around insurance, medical care, school, and social services. We hope to continue to expand our involvement and relationships with other like-minded organizations so that the G1D community is represented and its voices are heard and to develop more advocacy resources for families.

To date, the Glut1 Deficiency Foundation has awarded $969,806 in seed research grants to several different institutions covering a variety of projects. We have convened the research community, developed a research plan based on patient priorities, and have begun building and supporting a collaborative research network. We have seated a SAB, developed a formal grant award program, and hope to continue to grow both the dollar amounts awarded and the number of researchers supported. We helped fund and inform the creation of the G1D Registry and have and will continue to promote participation in the registry through a targeted campaign for families and professionals, hoping to see an increase in the number of patients represented as well as the quantity and quality of data in the registry.

Overall, we feel the G1D Foundation has made a positive impact on the community and the state of Glut1 Deficiency in the medical field. Parents and families have found support, education and awareness have been increased, more patients have been diagnosed and properly treated, and research has been enhanced by more funding and more diverse investigations. Our goal for the future is to continue to grow our programs and find ways to identify and meet the growing and evolving needs of the community.