My name is Meredith. I live in Indianapolis, Indiana and was diagnosed with Glut1 when I was 18. I am the sixth of seven kids in my family, and the only one with Glut1, but since it is genetic there is now a 50% chance my kids could have Glut1. I began showing symptoms of Glut1 as a baby, being very lethargic, and began having ?wiggles? (my made-up term for my movement disorder) when I was about two. The wiggles, low energy, and my learning issues continued until after I got diagnosed with Glut1. After my diagnosis we learned the only treatment for Glut1 is a very strict diet. Many Glut1 patients are on a Ketogenic Diet, but I am on Modified Atkins, with only 15 carbs a day. These strict diets allow for our bodies to fall into ketosis and run on ketones rather than glucose.
Since my diagnosis in 2012 I have made great strides. I graduated High School in 2013, and graduated with my BA in Sociology this past December. I am able to do so many things now that without a diagnosis we never thought possible. I work full time at a daycare down the street from my house and I am able to walk since I don?t have a car. I pack a lunch each day and always have snacks on hand; being such a strict diet I have to eat as often as I possibly can.
Glut1 has changed my life in so many ways. There are so many incredible people all over the U.S. and world that I have met in the past 5.5 years, and I am blessed to be among them. I never would have received this diagnosis if it weren?t thanks to the Glut1 Foundation and all they are able to do through the help of donations.
Donations to the Glut1 Foundation go directly toward education and research for a better treatment and hopes of an ultimate cure to this deficiency.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.