Newly Diagnosed

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...the end of one journey and the beginning of another.

Having a name helps provide the focus and direction needed to begin to understand what you and your family are facing so that you can learn how to help and support your loved one with Glut1 in the best ways possible. It also gives you a new family of fellow parents and patients to help you on the journey.
In the world of rare diseases, Glut1 Deficiency patients can be counted as fortunate.  Health issues and struggles certainly exist, but Glut1 Deficiency 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.
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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.
Glut1 DS Care and Support International Closed Facebook Group
Rare Diseases Online Community – Glut1 DS  in German, English, French, Spanish, and Italian
Charlie Foundation Ketogenic Diet Resources
Matthew's Friends Aid and support in managing the Ketogenic Diet

If you sign up for our family network, you'll receive a welcome packet of resources and information for newly diagnosed families.  

Additional Resources