The Glut1 Deficiency Foundation is a nonprofit patient advocacy organization dedicated to improving lives in the Glut1 Deficiency community through our mission of
- increased awareness
- improved education
- advocacy for patients and families
- support and funding for research
our mission in motion
Core Service Programs
so more patients can get a life changing diagnosis and families can find support on this journey
so healthcare professionals can diagnose and treat and families know what to expect
so rights of patient and families are protected, voices are heard, and lives are valued
so there is better understanding of this disease to lead to treatments and cures
Together we’re making progress.
At the Glut1 Deficiency Foundation, we don’t just support families and provide resources. We are also leading the efforts for better understanding so Glut1 Deficiency will be easier to diagnose early, treat effectively, and cure completely.
We connect and support the scientific community, fund research, foster collaborations, and help ensure these efforts are focused on and led by the needs and priorities of patients and families.
Since 2011, we have been committed to serving the global Glut1 Deficiency community.
We are actively driving progress and have provided more than one million dollars in research funding.
In our Collective Voices in Glut1 Deficiency Project, we surveyed 260 patients and families to better understand the Glut1 Deficiency experience.
Our core values
Collaboration: We are all on the same collective mission, and we can do so much more together than any of us can do alone.
Integrity: We are committed to earning trust by doing our work well and being honest, kind, and open in the way we do it.
Belonging: We embrace and respect differences in every form and value each person in the community we've created.
Service: We keep patients and families at the center of all we do - serving them is the reason we exist.
Growth: We seek out opportunities to continuously improve as our community, our work, and our organization grow.
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.
Our first gathering:
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.
Our first research grant:
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 the same year 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.
We have continued to grow our service programs and our impact, have expanded our Board of Directors, and have added both a Medical Advisory Board and Scientific Advisory Board to help guide our endeavors. The first Executive Director was named in 2017, and additional roles have been added since. Yet, our "why" remains the same as it was in those early days.
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 remain 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.
The Glut1 Deficiency Foundation is a nonprofit organization that honors the fundamental value, dignity, and diverse life experiences of all individuals. We recognize the right of every person to be mutually respected and accepted regardless of any differences. We strive to be inclusive, fair, and kind as we work to best serve every member of our community.