The Glut1 Deficiency Foundation is a volunteer, non-profit family organization dedicated to:
- Educating others about Glut1 Deficiency by creating a forum for sharing support, experiences, resources, and information between patients, families, and healthcare professionals.
- Increasing awareness of and advocacy for Glut1 Deficiency.
- Supporting and funding researchers as they work for better treatments and an ultimate cure.
Recent and ongoing projects
- Family and professional conferences on Glut1 Deficiency – next meeting July 2017
- Over $400,000 in grant awards for helping fund current, ongoing, and future research and research-related projects:
-C7 (triheptanoin) study at UT Southwestern
-Natural History Study and special research projects at Columbia
-Senior Research Scientist position at UT Southwestern
-International Patient Registry
-Ketone supplement research at the University of South Florida and the University of Salerno (Italy)
-gene therapy studies at Columbia
-stem cell studies at Texas Tech
- Brochure project for use in education, awareness, and advocacy
- Find Some1 with Glut1 diagnostic campaign
- Facilitating hospital Grand Rounds teaching opportunities
- Facilitating creation of a uniform Standard of Care document for Glut1 Deficiency
- Professional conference exhibits and focus group meeting participation
The Glut1 Deficiency Foundation was formed originally in 2009 – born of a desire for Glut1 families to get together to meet, share, and learn from one another. Glut1 Deficiency is such a rare diagnosis that many families, and especially our Glut1 children, have never had the experience of meeting others who share this journey.
The Yahoo Health Group for Glut1 DS was our original meeting place, and as our connections with and dependence upon each other deepened and strengthened, we started talking about how good and helpful it would be if we could meet in person. A group of Glut1 Deficiency families in Australia had a gathering a few years earlier, so this was the inspiration for us to do the same. A German Glut1 parent group (www.glut1.de) also has regular family get-togethers, and we very much wanted to have a similar experience.
Jen Lazar, mom to Sam, had the courage to take on the task of organizing our first family meeting in Chicago, which quickly grew into a full-fledged conference as world-renowned Glut1 Deficiency researchers, doctors, and dietitians were eager to join us. The knowledge, experiences, and emotions shared there certainly impressed upon us the need to continue having conferences to be able to have time with other families and to continue to learn about the work being done by the specialists on behalf of our children. As relationships developed with these Glut1 experts, we soon learned that there were very few sets of eyes and very few dollars focused on researching Glut1 Deficiency – and we wanted to help change that.
As our second conference rolled around in 2010, hosted by the Steele family (Macie), we were well on our way to building a formal organization (originally naming ourselves glut1ds.org) and trying to make a difference for our children. The Meyers family (Katie) spearheaded a $25,000 fundraising effort that was presented at the conference for a clinical trial at UT Southwestern for the use of C7 oil (triheptanoin) as an alternative treatment for Glut1 Deficiency. The Louisville conference also gave us an opportunity to meet with experts and other interested families to begin to plan the process for becoming a formal non-profit group. A leadership board began to emerge in early 2011, and the groundwork began to be laid for what became called the Glut1 Deficiency Foundation. We received our 501 (c)(3) designation from the IRS in July of 2011.
Our third conference was held in New Orleans in 2011 and hosted by the Meyers family. Board members had the opportunity there to meet with our esteemed Glut1 Deficiency experts and work on setting goals and developing plans for future projects.
With so little government funding available for rare diseases, we know that the future of research, advancements, diagnosis, and improvements in treatments and quality of life for Glut1 Deficiency patients rests largely in the hands of families. We know that we can do so much more together than any of us can do alone, and there are many projects, both large and small, where we can help move things forward. We are already hard at work trying to help all people, present and future, with Glut1 Deficiency, and we hope to one day be able to help bring about the ultimate treatment – a cure.