A diagnosis helps answer many questions, but it also creates many more. As overwhelmed and anxious as families feel with the news of a rare, genetic, and serious medical condition, a proper diagnosis is a turning point and an important and positive step in the right direction.
In the world of rare diseases, Glut1 Deficiency patients can be counted as fortunate. Health issues and struggles certainly exist, but G1D is neither terminal nor progressive, and there is great hope for improvement in symptoms for most patients with a ketogenic diet. Glut1 Deficiency patients are generally a delight to all who know them and are cheerful, friendly, social, and positively perseverant in overcoming challenges. Additionally, the Glut1 Deficiency community has a dedicated team of experts and researchers working every day to help develop better and more effective treatments and improve the quality of life for patients and families. Hope abounds.
We have compiled a list of resources below we hope will be most helpful to you as you begin this journey. Also, please explore the website for more information on Glut1 Deficiency, especially under the Resources section.
- Educational Brochure (English, Spanish, Portuguese)
- Power Point on Glut1 Deficiency and the G1D Foundation
- Glut1 Deficiency FAQ
- Glut1 Deficiency Foundation Conference Summaries
- Family Stories
- Sample School Letter
- Cognition and Learning
- Triheptanoin FAQ
- Family Recommended Specialists
- Glut1 Deficiency Patient Registry
- Related Links
GLUT1DS Yahoo Group International Glut1 Transporter Deficiency Syndrome Support Group
Rare Diseases Online Community – Glut1 DS in German, English, French, Spanish, and Italian
Charlie Foundation Ketogenic Diet Resources
Matthews Friends Aid and support in managing the Ketogenic Diet