As many of you know, almost three years Jackson was diagnosed with a rare genetic disorder, Glucose Transporter Deficiency Syndrome.
Glut1DS, because it is so rare can go undiagnosed for many years. Jackson started displaying symptoms at 2 months, when he would experience random eye movements. Jackson was missing milestones, had low muscle tone and ataxic walk. His seizures began before his second birthday but because they were atonic, they did not read on EEG tests. We were lucky to have a Neurologist a Children's National who was able to finally put all his different symptoms together and provide a diagnosis.
Helping the G1D Foundation not only helps Jackson but other children still going undiagnosed.
Please take a moment to watch this video to see the faces of Glut1DS - Thank you for showing your love for Some1 with Glut1 and for helping us bring help and hope to the Glut1 Deficiency 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.