As many of you know, our family has been deeply involved with the Glut1 Deficiency Foundation since its beginning. We believe in the mission and have seen firsthand the positive changes that are happening because it. More doctors know and understand, so more patients are getting diagnosed and at younger ages. Information and resources are growing and readily available, so families find help and support when they need it. Research is expanding into new territories and being done by a growing number of scientists interested in helping our patients live a better quality of life. Despite the progress, there is still much work to be done.
All of these things have made a very positive impact on Macie and our family, too. Life continues to get better for her, and we have great hope that good things will continue to come. Our work with the G1D Foundation is the best way we know to help her, and it also means we get to help make the way easier for the patients and families who walk with us and follow this path behind us.
We are so grateful for the help we receive from those who know and love Macie. You can find out more below about how that support is put to work to help everyone in the G1D community.
Glut1 Deficiency is a rare genetic condition where glucose doesn't reach and fuel the brain properly, resulting in a wide spectrum of neurological issues affecting brain growth, learning, movement, speech, and often causing seizures. There are fewer than 1,000 people diagnosed in the world, but experts believe there are many, many more patients still waiting to be found. Because Glut1 Deficiency is so rare, many in the medical profession don't have the knowledge they need to diagnose and properly treat it.
There is a very effective treatment for most patients - a ketogenic diet, and the earlier patients are diagnosed and start treatment the better the outcome. As fortunate as we are to have the diet, it is not a cure, not a complete treatment, and it is not easy. We need more research for better understanding, better treatment options, and ultimately a complete cure.
The Glut1 Deficiency Foundation is working hard to bring help and hope to the Glut1 Deficiency community.
The Love Some1 with Glut1 annual campaign is our primary awareness and fundraising event. It runs from Valentine's Day (February 14th) through Rare Disease Day (February 28th), and it is an opportunity to spread awareness and raise much needed funds to help better serve the needs of the community. All donations help fund our mission programs for increased awareness, improved education, advocacy for patients and families, and support and funding for research.
some highlights our supporters made possible in 2017
Please help us continue our mission.
We can do so much more together than any of us can do alone.
please watch our special thank you video
Please visit our website to learn more about Glut1 Deficiency and the work of the G1D Foundation.