FINDING THE CURE FOR Glut1 DS

Glut1 DS is a relatively new condition in that it was first discovered less than twenty years ago. However, the research to find a cure has progressed quickly over those twenty years. There is already a mouse model for Glut1 DS and scientists at the Colleen Giblin Laboratories are poised to move the research forward toward a cure for this condition.

Funding for Glut1 DS Research is an Absolute Necessity
It costs hundreds of thousands of dollars a year to keep the research going day to day and millions of dollars to fund bigger initiatives that will likely lead to profound and effective breakthroughs. Such initiatives include things like high put through assay testing and newborn screening. The National Institute of Health (NIH) was a primary supporter of this research and provided funds needed to get the research to where it is today. But, the NIH has withdrawn its financial support, and now the Glut1 DS research is at risk.

The importance of early diagnosis and awareness
Right now, kids with Glut1 DS who are fortunate enough to get a proper diagnosis are put on the very restrictive ketogenic diet which helps in varying degrees depending on how well the child responds and how early the child was diagnosed, as well as the severity of the child's genetic mutation. Children with Glut1 DS who are not properly diagnosed are growing up while their brains are not growing. They are most often severely symptomatic with physical and mental symptoms and disabilities. Much of their suffering is preventable.

In addition to funding research for a cure, we are constantly trying to raise awareness of Glut1 DS so that children can be diagnosed as soon as possible and treated with the ketogenic diet. The diet, while not a cure, can help while these children wait for a cure. The alternative, without a proper diagnosis, is that the children's brains do not grow properly, and they are left with many irretrievable deficits, which affect them physically and cognitively. We simply cannot allow this to happen. We want every child with Glut1 DS to be diagnosed as early as possible, and we believe they can and will be cured.

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